 Macrocephaly |
|
Intellectual disability |
|
Seizure |
|
Spasticity |
|
Agenesis of corpus callosum |
|
Hyperreflexia |
|
Megalencephaly |
|
Failure to thrive |
|
Frontal bossing |
|
Nausea and vomiting |
|
Abnormality of speech or vocalization |
|
Clonus |
|
EEG abnormality |
|
Sleep abnormality |
|
Scoliosis |
|
Abnormal pyramidal sign |
|
Large face |
|
Abnormality of eye movement |
|
Ptosis |
|
Nystagmus |
|
Diplopia |
|
Emotional lability |
|
Depression |
|
Hyperhidrosis |
|
Ataxia |
|
Dysarthria |
|
Gait disturbance |
|
Tremor |
|
Dysphonia |
|
Dysphagia |
|
Constipation |
|
Hypothermia |
|
Aphasia |
|
Tetraplegia |
|
Cerebral calcification |
|
Hypotension |
|
Kyphosis |
|
Sleep apnea |
|
Facial palsy |
|
Recurrent singultus |
|
High palate |
|
Hydrocephalus |
|
Short neck |
|
Diabetes mellitus |
|
Hypothyroidism |
|
Hypertension |
|
Precocious puberty |
|
Osteopenia |
|
Hypotonia |
|
Muscle weakness |
|
Sudden cardiac death |
|
Chorea |
|
Respiratory insufficiency |
|
Developmental regression |
|
Encephalitis |
|
Aqueductal stenosis |
|
Bowel incontinence |
|
Hyperlordosis |
|
Hyperpigmented nevi |
|
Abnormal autonomic nervous system physiology |
|
Self-injurious behavior |
|
Macroglossia |
|
Coarse facial features |
|
Hearing impairment |
|
Cataract |
|
Global developmental delay |
|
Splenomegaly |
|
Hepatomegaly |
|
Skeletal dysplasia |
|
Delayed skeletal maturation |
|
Craniofacial hyperostosis |
|
Depressed nasal bridge |
|
Type II diabetes mellitus |
|
Corneal opacity |
|
Hypoplastic inferior ilia |
|
Inguinal hernia |
|
Narrow palate |
|
Gingival overgrowth |
|
Hypertelorism |
|
Prominent supraorbital ridges |
|
Chronic otitis media |
|
Macrotia |
|
Atypical behavior |
|
Hip dysplasia |
|
Bowing of the long bones |
|
Open bite |
|
Abnormality of the helix |
|
Generalized abnormality of skin |
|
Mandibular prognathia |
|
Widely spaced teeth |
|
Dental malocclusion |
|
Hallucinations |
|
Arthritis |
|
Recurrent respiratory infections |
|
Increased intracranial pressure |
|
Avascular necrosis |
|
Synostosis of joints |
|
Wide nasal bridge |
|
Delayed speech and language development |
|
Umbilical hernia |
|
Abnormal facial shape |
|
Short nose |
|
Abnormality of amino acid metabolism |
|
Microtia |
|
Aspartylglucosaminuria |
|
Thick vermilion border |
|
Dyskinesia |
|
Macroorchidism |
|
Abnormality of the dentition |
|
Carious teeth |
|
Pectus carinatum |
|
Thickened calvaria |
|
Abnormal cortical bone morphology |
|
Anterior beaking of lumbar vertebrae |
|
Abnormal morphology of ulna |
|
Joint stiffness |
|
Pes planus |
|
Malabsorption |
|
Abnormal vertebral morphology |
|
Beaking of vertebral bodies |
|
Vascular skin abnormality |
|
Microcephaly |
|
Smooth philtrum |
|
Sensorineural hearing impairment |
|
Anteverted nares |
|
Visual impairment |
|
Thick eyebrow |
|
Optic atrophy |
|
Neonatal hypotonia |
|
Coarse hair |
|
Abnormality of peripheral nerve conduction |
|
Short stature |
|
Rapid neurologic deterioration |
|
Abnormality of retinal pigmentation |
|
Ichthyosis |
|
Mucopolysacchariduria |
|
Broad hallux phalanx |
|
Broad thumb |
|
Hypoplasia of the abdominal wall musculature |
|
Blindness |
|
Abnormality of visual evoked potentials |
|
Hypertonia |
|
Flexion contracture |
|
Gastroesophageal reflux |
|
Reduced consciousness/confusion |
|
Feeding difficulties in infancy |
|
Cognitive impairment |
|
Proteinuria |
|
Nephropathy |
|
Renal tubular dysfunction |
|
Photophobia |
|
Abnormal repetitive mannerisms |
|
Delayed puberty |
|
Dehydration |
|
Polydipsia |
|
Vomiting |
|
Hypophosphatemia |
|
Hypokalemia |
|
Myopathy |
|
Aminoaciduria |
|
Nephrogenic diabetes insipidus |
|
Fatigue |
|
Type I diabetes mellitus |
|
Renal insufficiency |
|
Retinopathy |
|
Rickets |
|
Intellectual disability, mild |
|
Portal hypertension |
|
Fever |
|
Cranial nerve paralysis |
|
Brachycephaly |
|
Dysostosis multiplex |
|
Acrocyanosis |
|
Abnormality of the nail |
|
Abnormality of the cardiovascular system |
|
Cardiomegaly |
|
Spastic tetraplegia |
|
Decreased muscle mass |
|
Abnormality of the gallbladder |
|
Generalized hyperkeratosis |
|
Intellectual disability, severe |
|
Prominent forehead |
|
Lipoatrophy |
|
Full cheeks |
|
Hypoglycemia |
|
Hypertriglyceridemia |
|
Immunodeficiency |
|
Sensory neuropathy |
|
Abnormal thumb morphology |
|
Abnormality of metabolism/homeostasis |
|
Cloverleaf skull |
|
EMG abnormality |
|
Peripheral neuropathy |
|
Aplasia/Hypoplasia of the abdominal wall musculature |
|
Feeding difficulties |
|
Reduced galactocerebrosidase activity |
|
Irritability |
|
Generalized myoclonic seizure |
|
Spastic paraparesis |
|
Hemiplegia/hemiparesis |
|
Hyperpyrexia |
|
Urinary incontinence |
|
Hand clenching |
|
Hyporeflexia |
|
Myoclonus |
|
Pes cavus |
|
Weight loss |
|
Opisthotonus |
|
Clumsiness |
|
Difficulty walking |
|
Frequent falls |
|
Poor head control |
|
Respiratory failure |
|
Increased CSF protein concentration |
|
Decerebrate rigidity |
|
Slow pupillary light response |
|
Erectile dysfunction |
|
Hyperesthesia |
|
Anemia |
|
Hyperuricemia |
|
Myotonia |
|
Skeletal muscle atrophy |
|
Increased muscle glycogen content |
|
Thick lower lip vermilion |
|
Sinusitis |
|
Abnormal metaphysis morphology |
|
Epiphyseal dysplasia |
|
Recurrent upper respiratory tract infections |
|
Disproportionate short-trunk short stature |
|
Opacification of the corneal stroma |
|
Thick nasal alae |
|
Broad ribs |
|
Genu valgum |
|
Ovoid vertebral bodies |
|
Hernia |
|
Abnormal heart valve morphology |
|
Malformation of the heart and great vessels |
|
Abnormality of cardiovascular system morphology |
|
Progressive visual loss |
|
Decreased nerve conduction velocity |
|
Hyperkeratosis |
|
Slurred speech |
|
Abnormal form of the vertebral bodies |
|
Increased urinary O-linked sialopeptides |
|
Short thorax |
|
Cherry red spot of the macula |
|
Urinary excretion of sialylated oligosaccharides |
|
Abnormality of movement |
|
Everted lower lip vermilion |
|
Strabismus |
|
Abnormal electroretinogram |
|
Microdontia |
|
Palmoplantar keratoderma |
|
Absent speech |
|
Genu recurvatum |
|
Abnormality of ganglioside metabolism |
|
Biparietal narrowing |
|
Abnormal nasal morphology |
|
Developmental stagnation |
|
Abnormality of mucopolysaccharide metabolism |
|
Prominent occiput |
|
Hearing abnormality |
|
Abnormality of the hip bone |
|
Large iliac wings |
|
Acne |
|
Cleft palate |
|
Abnormal aortic valve morphology |
|
Reduced bone mineral density |
|
Congestive heart failure |
|
Motor deterioration |
|
Abnormal glycosphingolipid metabolism |
|
Progressive psychomotor deterioration |
|
Lymphedema |
|
Ascites |
|
Hydrops fetalis |
|
Metatarsus adductus |
|
Abnormality of the pleura |
|
Anterior beaking of lower thoracic vertebrae |
|
Diaphyseal thickening |
|
Epiphyseal stippling |
|
Hepatitis |
|
Flat face |
|
Arteriovenous malformation |
|
Enlarged thorax |
|
Dry skin |
|
Hypohidrosis |
|
Attention deficit hyperactivity disorder |
|
Cryptorchidism |
|
Autism |
|
Motor delay |
|
Desquamation of skin soon after birth |
|
Secondary amenorrhea |
|
Hashimoto thyroiditis |
|
Shield chest |
|
Specific learning disability |
|
Hepatic steatosis |
|
Obesity |
|
Failure to thrive in infancy |
|
Hypoplastic toenails |
|
Glucose intolerance |
|
Low posterior hairline |
|
High, narrow palate |
|
Elevated hepatic transaminase |
|
Dilatation of the aortic arch |
|
Dermatoglyphic ridges abnormal |
|
Enlargement of the distal femoral epiphysis |
|
Irregular proximal tibial epiphyses |
|
Abnormal dermatoglyphics |
|
Neck pterygia |
|
Short 4th metacarpal |
|
Short 5th metacarpal |
|
Hypermobility of toe joints |
|
Horseshoe kidney |
|
Ectopic kidney |
|
Epicanthus |
|
Cystic hygroma |
|
Myopia |
|
Pectus excavatum |
|
Hyperinsulinemia |
|
Atypical scarring of skin |
|
Melanocytic nevus |
|
Vitiligo |
|
Abnormal fingernail morphology |
|
Hepatic fibrosis |
|
Alopecia |
|
Atrial septal defect |
|
Bicuspid aortic valve |
|
Prolonged QT interval |
|
Myocardial infarction |
|
Coarctation of aorta |
|
Hyperconvex fingernails |
|
Short toe |
|
Celiac disease |
|
Cholestatic liver disease |
|
Autoimmunity |
|
Madelung deformity |
|
Inverted nipples |
|
Nevus |
|
Numerous congenital melanocytic nevi |
|
External ear malformation |
|
Aplasia/Hypoplasia of the mandible |
|
Splayed toes |
|
Delayed social development |
|
Thyroiditis |
|
Gonadoblastoma |
|
Gastrointestinal angiodysplasia |
|
Cirrhosis |
|
Inflammation of the large intestine |
|
Biliary cirrhosis |
|
Aortic dissection |
|
Melanoma |
|
Hypoplastic left heart |
|
Gastrointestinal inflammation |
|
Arterial dissection |
|
Renal hypoplasia/aplasia |
|
Neurodevelopmental delay |
|
Abnormality of the ovary |
|
Increased circulating gonadotropin level |
|
Short sternum |
|
Osteoporosis |
|
Growth delay |
|
Intrauterine growth retardation |
|
Cubitus valgus |
|
High urinary gonadotropins (primary hypogonadism) |
|
Wide intermamillary distance |
|
Aplasia/Hypoplasia of the nipples |
|
Premature ovarian insufficiency |
|
Female infertility |
|
Postnatal growth retardation |
|
Increased upper to lower segment ratio |
|
Abnormal forearm bone morphology |
|
Retrognathia |
|
Micrognathia |
|
Low-set ears |
|
Recurrent otitis media |
|
Webbed neck |
|
Thickened nuchal skin fold |
|
Broad neck |
|
Anxiety |
|
Impaired use of nonverbal behaviors |
|
Primary amenorrhea |
|
Abnormality of the skeletal system |
|
Pallor |
|
Microcytic anemia |
|
Abnormal hemoglobin |
|
Hypogonadotropic hypogonadism |
|
Abnormal skull morphology |
|
Abnormality of temperature regulation |
|
Abnormality of iron homeostasis |
|
Cholelithiasis |
|
Hypertrophic cardiomyopathy |
|
Thrombocytopenia |
|
Venous thrombosis |
|
Skin ulcer |
|
Exocrine pancreatic insufficiency |
|
Bronchiectasis |
|
Airway obstruction |
|
Elevated sweat chloride |
|
Absent vas deferens |
|
Male infertility |
|
Abnormality of the liver |
|
Rectal prolapse |
|
Asthma |
|
Steatorrhea |
|
Recurrent Aspergillus infections |
|
Recurrent Staphylococcus aureus infections |
|
Recurrent lower respiratory tract infections |
|
Meconium ileus |
|
Recurrent Haemophilus influenzae infections |
|
Reduced forced expiratory volume in one second |
|
Decreased body mass index |
|
Nephrolithiasis |
|
Hemoptysis |
|
Pneumothorax |
|
Recurrent Burkholderia cepacia infections |
|
Nontuberculous mycobacterial pulmonary infection |
|
Nasal polyposis |
|
Hemolytic anemia |
|
Hypersplenism |
|
Myelodysplasia |
|
Anisopoikilocytosis |
|
Hemoglobin Barts |
|
Malar prominence |
|
Abnormality of immune system physiology |
|
Hyperplasia of the maxilla |
|
Hepatosplenomegaly |
|
Pericardial effusion |
|
Reticulocytosis |
|
Extramedullary hematopoiesis |
|
Pleural effusion |
|
Generalized edema |
|
Jaundice |
|
Foot dorsiflexor weakness |
|
Right bundle branch block |
|
Pectoralis amyotrophy |
|
Chronic pain |
|
Nocturnal lagophthalmos |
|
Weakness of facial musculature |
|
Beevor's sign |
|
Camptocormia |
|
Retinal detachment |
|
Visual loss |
|
Supraventricular arrhythmia |
|
Exudative retinopathy |
|
Mask-like facies |
|
Elevated circulating creatine kinase concentration |
|
Progressive muscle weakness |
|
Scapular winging |
|
Keratitis |
|
Conjunctivitis |
|
Protuberant abdomen |
|
Restrictive ventilatory defect |
|
Limb-girdle muscle weakness |
|
Steppage gait |
|
EMG: myopathic abnormalities |
|
Decreased facial expression |
|
Straight clavicles |
|
Abnormal retinal vascular morphology |
|
Distal upper limb muscle weakness |
|
Abdominal wall muscle weakness |
|
Reduced tendon reflexes |
|
Limb-girdle muscular dystrophy |
|
Sprengel anomaly |
|
Achilles tendon contracture |
|
Waddling gait |
|
Elbow flexion contracture |
|
Increased LDL cholesterol concentration |
|
Spinal rigidity |
|
Back pain |
|
Rimmed vacuoles |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles |
|
Proximal upper limb amyotrophy |
|
Proximal lower limb amyotrophy |
|
Proximal muscle weakness in lower limbs |
|
Proximal muscle weakness in upper limbs |
|
Type 1 muscle fiber atrophy |
|
Tip-toe gait |
|
Absent muscle fiber emerin |
|
Dilated cardiomyopathy |
|
Atrioventricular block |
|
Lipodystrophy |
|
Vocal cord paralysis |
|
Respiratory insufficiency due to muscle weakness |
|
Ventricular escape rhythm |
|
Pigmentary retinopathy |
|
Progressive external ophthalmoplegia |
|
Third degree atrioventricular block |
|
Anterior hypopituitarism |
|
Ragged-red muscle fibers |
|
Progressive intervertebral space narrowing |
|
Neck muscle weakness |
|
Dementia |
|
Hypoparathyroidism |
|
Cardiomyopathy |
|
Renal tubular acidosis |
|
Exercise intolerance |
|
Chronic kidney disease |
|
Muscle stiffness |
|
Myotonia with warm-up phenomenon |
|
EMG: myotonic discharges |
|
Myalgia |
|
Skeletal muscle hypertrophy |
|
Muscle spasm |
|
Progressive distal muscle weakness |
|
Arrhythmia |
|
Cardiac conduction abnormality |
|
Multiple lipomas |
|
Congenital hip dislocation |
|
Joint laxity |
|
Mitral valve prolapse |
|
Talipes equinovarus |
|
Malignant hyperthermia |
|
Kyphoscoliosis |
|
Multiple joint contractures |
|
Easy fatigability |
|
Pelvic girdle muscle weakness |
|
Type 1 muscle fiber predominance |
|
Central core regions in muscle fibers |
|
Ophthalmoplegia |
|
Bulbar signs |
|
Nemaline bodies |
|
Abnormal circulating creatine kinase concentration |
|
Fetal akinesia sequence |
|
Neonatal respiratory distress |
|
Rectus femoris muscle atrophy |
|
Nephrotic syndrome |
|
Conjunctival telangiectasia |
|
Hematuria |
|
Angiokeratoma |
|
Corneal dystrophy |
|
Subcutaneous nodule |
|
Abdominal pain |
|
Transient ischemic attack |
|
Arthralgia |
|
Mucosal telangiectasiae |
|
Telangiectasia of the skin |
|
Abnormal renal tubule morphology |
|
Tinnitus |
|
Mitral regurgitation |
|
Anorexia |
|
Emphysema |
|
Hyperlipidemia |
|
Abnormal circulating lipid concentration |
|
Bundle branch block |
|
Acroparesthesia |
|
Cornea verticillata |
|
Diabetes insipidus |
|
Stroke |
|
Abnormal myocardium morphology |
|
Angina pectoris |
|
Left ventricular hypertrophy |
|
Dyspnea |
|
Vertigo |
|
Achalasia |
|
Abnormality of femur morphology |
|
Abnormality of the endocardium |
|
Chronic pulmonary obstruction |
|
Glomerulopathy |
|
Disproportionate tall stature |
|
Slender build |
|
Spontaneous pneumothorax |
|
Aortic root aneurysm |
|
Aortic aneurysm |
|
Chronic fatigue |
|
Narrow face |
|
Dental crowding |
|
Ectopia lentis |
|
Lens subluxation |
|
Joint hypermobility |
|
Aortic regurgitation |
|
Tricuspid valve prolapse |
|
Protrusio acetabuli |
|
Ascending tubular aorta aneurysm |
|
Arthralgia/arthritis |
|
Increased axial length of the globe |
|
Abnormal zygomatic bone morphology |
|
Lens luxation |
|
Dural ectasia |
|
Dolichocephaly |
|
Downslanted palpebral fissures |
|
Glaucoma |
|
Meningocele |
|
Aneurysm of an abdominal artery |
|
Limited elbow movement |
|
Spondylolisthesis |
|
Cachexia |
|
Mitral valve calcification |
|
Ventricular tachycardia |
|
Pulmonary artery dilatation |
|
Abnormal left ventricular function |
|
Aortic tortuosity |
|
Hypoplasia of the iris |
|
Flat cornea |
|
Insomnia |
|
Striae distensae |
|
Arachnodactyly |
|
Abnormal testis morphology |
|
Polycystic ovaries |
|
Lymphopenia |
|
Premature graying of hair |
|
Neoplasm |
|
Abnormality of the immune system |
|
Abnormality of chromosome stability |
|
Decreased circulating antibody level |
|
Cellular immunodeficiency |
|
Hypopigmentation of hair |
|
Prematurely aged appearance |
|
Multiple cafe-au-lait spots |
|
Aplasia/Hypoplasia of the skin |
|
Aplasia/Hypoplasia of the thymus |
|
Upslanted palpebral fissure |
|
Brachydactyly |
|
Neutrophilia |
|
Round ear |
|
Decreased fertility |
|
Narrow mouth |
|
Open mouth |
|
Abnormality of the fontanelles or cranial sutures |
|
Depressed nasal ridge |
|
Ventricular septal defect |
|
Sandal gap |
|
Abnormality of blood and blood-forming tissues |
|
Polycythemia |
|
Duodenal atresia |
|
Alzheimer disease |
|
Downturned corners of mouth |
|
Clinodactyly of the 5th finger |
|
Atrioventricular canal defect |
|
Bilateral single transverse palmar creases |
|
Protruding tongue |
|
Abnormality of the lymphatic system |
|
Conductive hearing impairment |
|
Blepharitis |
|
Keratoconus |
|
Amblyopia |
|
Tetralogy of Fallot |
|
Secundum atrial septal defect |
|
Leukemia |
|
Anal atresia |
|
Aganglionic megacolon |
|
Atlantoaxial dislocation |
|
Acute megakaryocytic leukemia |
|
Impaired pain sensation |
|
Sparse hair |
|
Chronic constipation |
|
Hyperthyroidism |
|
Micropenis |
|
Abnormality of the inner ear |
|
Overfolded helix |
|
Anosmia |
|
Coloboma |
|
Iris coloboma |
|
Abnormal cranial nerve morphology |
|
Aplasia/Hypoplasia of the earlobes |
|
Hypoplasia of the semicircular canal |
|
Abnormal morphology of female internal genitalia |
|
Bifid scrotum |
|
Labial hypoplasia |
|
Facial asymmetry |
|
Low-set, posteriorly rotated ears |
|
Choanal atresia |
|
Anophthalmia |
|
Chorioretinal coloboma |
|
Microphthalmia |
|
Delayed eruption of teeth |
|
Obsessive-compulsive behavior |
|
Polyhydramnios |
|
Patent ductus arteriosus |
|
Abnormal cardiac septum morphology |
|
Chin dimple |
|
Interrupted aortic arch |
|
Abnormality of the soft palate |
|
Vesicoureteral reflux |
|
Hydronephrosis |
|
Cleft upper lip |
|
Preauricular skin tag |
|
Abnormality of the eye |
|
Abnormality of vision |
|
Eyelid coloboma |
|
Lacrimation abnormality |
|
Abnormal rib morphology |
|
Abnormality of the adrenal glands |
|
Dandy-Walker malformation |
|
Holoprosencephaly |
|
Laryngomalacia |
|
Talipes |
|
Highly arched eyebrow |
|
Tracheoesophageal fistula |
|
Hemivertebrae |
|
Abnormality of tibia morphology |
|
Abnormality of bone mineral density |
|
Aplasia/Hypoplasia of the cerebellum |
|
Bifid femur |
|
Hypoplasia of the zygomatic bone |
|
Omphalocele |
|
Polydactyly |
|
Abnormal pupil morphology |
|
Areflexia |
|
Abnormality of the voice |
|
Proximal renal tubular acidosis |
|
Hypercalciuria |
|
Hyponatremia |
|
Long face |
|
Protruding ear |
|
Deeply set eye |
|
Buphthalmos |
|
Hyperparathyroidism |
|
Joint swelling |
|
Ventriculomegaly |
|
Sparse scalp hair |
|
Fine hair |
|
Osteomalacia |
|
Recurrent fractures |
|
Joint hyperflexibility |
|
Generalized hypopigmentation |
|
Neoplasm of the skin |
|
Low levels of vitamin D |
|
Abnormality of calcium-phosphate metabolism |
|
Benign neoplasm of the central nervous system |
|
Azoospermia |
|
Nephrocalcinosis |
|
Thin upper lip vermilion |
|
Gingivitis |
|
Long philtrum |
|
Taurodontia |
|
Abnormality of dental enamel |
|
Periodontitis |
|
Hyperaldosteronism |
|
Platyspondyly |
|
Death in infancy |
|
Deep philtrum |
|
Increased serum lactate |
|
Hip dislocation |
|
Patellar dislocation |
|
Hypercholesterolemia |
|
Flat occiput |
|
Multiple renal cysts |
|
Abnormality of epiphysis morphology |
|
Chorioretinal dysplasia |
|
Reduced number of teeth |
|
Oligosacchariduria |
|
Lentiglobus |
|
Hypoammonemia |
|
Urogenital fistula |
|
Odontogenic neoplasm |
|
Atelectasis |
|
Cheilitis |
|
Retinoblastoma |
|
Proptosis |
|
Leukocoria |
|
Hypopyon |
|
Uveitis |
|
Heterochromia iridis |
|
Lymphoma |
|
Osteosarcoma |
|
Rhabdomyosarcoma |
|
Reduced visual acuity |
|
Retinal calcification |
|
Vitreous hemorrhage |
|
Hyphema |
|
Abnormal eye morphology |
|
Subretinal pigment epithelium hemorrhage |
|
Red eye |
|
Leiomyosarcoma |
|
Cellulitis |
|
Glioma |
|
Ewing sarcoma |
|
Pineoblastoma |
|
Intellectual disability, moderate |
|
Folate-dependent fragile site at Xq28 |
|
Otitis media |
|
Large forehead |
|
Delayed gross motor development |
|
Cerebral cortical atrophy |
|
Abnormality of the face |
|
Low anterior hairline |
|
Split hand |
|
Joint dislocation |
|
Apnea |
|
Generalized hirsutism |
|
Paresthesia |
|
Spinal canal stenosis |
|
Cough |
|
Abnormal tendon morphology |
|
Abnormality of the tonsils |
|
Posterior embryotoxon |
|
Seborrheic dermatitis |
|
Tetany |
|
Hypocalcemia |
|
Impaired T cell function |
|
Corneal neovascularization |
|
Anorectal anomaly |
|
Hypospadias |
|
Polycystic kidney dysplasia |
|
Abnormality of the uterus |
|
Turricephaly |
|
Short philtrum |
|
Abnormality of the thorax |
|
Purpura |
|
Hypopigmented skin patches |
|
Retinal arteriolar tortuosity |
|
Hand polydactyly |
|
Parkinsonism |
|
Foot polydactyly |
|
Abnormality of thrombocytes |
|
Abnormal lung lobation |
|
Arrhinencephaly |
|
Gastrointestinal hemorrhage |
|
Spina bifida |
|
Intestinal malrotation |
|
Varicose veins |
|
Bipolar affective disorder |
|
Multiple suture craniosynostosis |
|
Tricuspid atresia |
|
Hypertensive crisis |
|
Schizophrenia |
|
Bulbous nose |
|
Prominent nasal bridge |
|
Telecanthus |
|
Abnormality of the pharynx |
|
Hypoplasia of the thymus |
|
Hypernasal speech |
|
Abnormal pulmonary valve morphology |
|
Truncus arteriosus |
|
Platybasia |
|
Abnormal aortic arch morphology |
|
Renal hypoplasia |
|
Malar flattening |
|
Small earlobe |
|
Abnormal eyelid morphology |
|
Recurrent urinary tract infections |
|
Abnormality of the bladder |
|
Bladder diverticulum |
|
Functional abnormality of male internal genitalia |
|
Renal duplication |
|
Pelvic kidney |
|
Wide mouth |
|
Pointed chin |
|
Broad forehead |
|
High forehead |
|
Abnormality of the neck |
|
Megalocornea |
|
Blepharophimosis |
|
Blue irides |
|
Hypodontia |
|
Sacral dimple |
|
Nevus flammeus |
|
Adducted thumb |
|
Dysmetria |
|
Nystagmus-induced head nodding |
|
Redundant skin |
|
Hoarse voice |
|
Pulmonic stenosis |
|
Hallux valgus |
|
Tubulointerstitial abnormality |
|
Abnormality of extrapyramidal motor function |
|
Gait imbalance |
|
Phonophobia |
|
Colonic diverticula |
|
Chiari malformation |
|
Overriding aorta |
|
Cerebral ischemia |
|
Abnormality of pelvic girdle bone morphology |
|
Radioulnar synostosis |
|
Abnormality of the ankles |
|
Hypercalcemia |
|
Spina bifida occulta |
|
Vertebral segmentation defect |
|
Abnormality of the gastric mucosa |
|
Involuntary movements |
|
Supravalvular aortic stenosis |
|
Peptic ulcer |
|
Elfin facies |
|
Peripheral pulmonary artery stenosis |
|
Abnormality of the carotid arteries |
|
Abnormality of dental morphology |
|
Atrophy/Degeneration involving the corticospinal tracts |
|
Aplasia/Hypoplasia of the iris |
|
High hypermetropia |
|
Urethral stenosis |
|
Hypoplasia of penis |
|
Dysgraphia |
|
Abnormality of the diencephalon |
|
Hyperacusis |
|
Increased nuchal translucency |
|
Increased bone mineral density |
|
Abnormal social behavior |
|
Abnormality of nervous system morphology |
|
Overfriendliness |
|
Periorbital edema |
|
Arterial stenosis |
|
Death in early adulthood |
|
Abnormality of the cerebral vasculature |
|
Renovascular hypertension |
|
Down-sloping shoulders |
|
Abnormality of the foot |
|
Tethered cord |
|
Decreased circulating IgA level |
|
Preauricular pit |
|
Rib segmentation abnormalities |
|
Aplasia/Hypoplasia of the lungs |
|
Aplasia cutis congenita of scalp |
|
Hypoplastic pubic rami |
|
Short thumb |
|
Short hallux |
|
Abnormality of the genital system |
|
Abnormality of the urinary system |
|
Aplasia of the uterus |
|
Sclerocornea |
|
Abdominal situs inversus |
|
Streak ovary |
|
Abnormality of the mouth |
|
Abnormal lip morphology |
|
Abnormality of the philtrum |
|
Decreased fetal movement |
|
High anterior hairline |
|
Abnormality of the kidney |
|
Congenital diaphragmatic hernia |
|
Rib fusion |
|
Abnormality of the vertebral column |
|
Hemangioma |
|
Preaxial hand polydactyly |
|
Skull defect |
|
Babinski sign |
|
Low levels of vitamin E |
|
Nyctalopia |
|
Cerebellar atrophy |
|
Dysdiadochokinesis |
|
Head titubation |
|
Impaired proprioception |
|
Urinary urgency |
|
Mental deterioration |
|
Dystonia |
|
Positive Romberg sign |
|
Epistaxis |
|
Abnormal mitral valve morphology |
|
Pericarditis |
|
Migraine |
|
Fasciculations |
|
Dyslexia |
|
Erythema |
|
Macule |
|
Myocarditis |
|
Hemiballismus |
|
Endocarditis |
|
Chest pain |
|
Recurrent pharyngitis |
|
Glossoptosis |
|
Skin rash |
|
Meningitis |
|
Neutropenia |
|
Chronic diarrhea |
|
Abnormal lung morphology |
|
Osteomyelitis |
|
Agammaglobulinemia |
|
Recurrent pneumonia |
|
Sepsis |
|
Recurrent cutaneous abscess formation |
|
Abnormality of the menstrual cycle |
|
Gingival bleeding |
|
Eczema |
|
Petechiae |
|
Bruising susceptibility |
|
Urticaria |
|
Abnormality of eosinophils |
|
Intracranial hemorrhage |
|
Hematemesis |
|
Acute leukemia |
|
Hematochezia |
|
Vasculitis |
|
Prolonged bleeding time |
|
Chronic leukemia |
|
Recurrent intrapulmonary hemorrhage |
|
Spontaneous hematomas |
|
Internal hemorrhage |
|
Abnormal platelet function |
|
Abnormal platelet morphology |
|
Hyperostosis |
|
Large fontanelles |
|
Narrow chest |
|
Skin dimple over apex of long bone angulation |
|
Craniosynostosis |
|
Skin dimple |
|
Absent septum pellucidum |
|
Hepatic failure |
|
Hyperammonemia |
|
Lethargy |
|
Coma |
|
Encephalopathy |
|
Respiratory alkalosis |
|
Poor suck |
|
Protein avoidance |
|
Drowsiness |
|
Oroticaciduria |
|
Low plasma citrulline |
|
Hypoargininemia |
|
Episodic vomiting |
|
Conjugated hyperbilirubinemia |
|
Prolonged partial thromboplastin time |
|
Delirium |
|
Testicular atrophy |
|
Gynecomastia |
|
Recurrent infections |
|
Aplasia/Hypoplasia of the cerebellar vermis |
|
Abnormal distal phalanx morphology of finger |
|
Pilomatrixoma |
|
Absent pubertal growth spurt |
|
Clubbing of toes |
|
Capillary hemangioma |
|
Avascular necrosis of the capital femoral epiphysis |
|
Finger syndactyly |
|
Abnormal pulmonary interstitial morphology |
|
Keloids |
|
Convex nasal ridge |
|
Talon cusp |
|
Abnormality of the genitourinary system |
|
Nasolacrimal duct obstruction |
|
Autistic behavior |
|
Abnormal corpus callosum morphology |
|
Abnormal heart morphology |
|
Respiratory distress |
|
Retinoschisis |
|
Abnormal foveal morphology |
|
Retinal pigment epithelial atrophy |
|
Electronegative electroretinogram |
|
Hyperautofluorescent retinal lesion |
|
Mizuo phenomenon |
|
Absent foveal reflex |
|
Osteoarthritis |
|
Genu varum |
|
Micromelia |
|
Abnormality of the elbow |
|
Childhood onset short-limb short stature |
|
Sparse body hair |
|
Everted upper lip vermilion |
|
Aplasia/Hypoplasia of the eyebrow |
|
Short distal phalanx of finger |
|
Blue cone monochromacy |
|
Color vision defect |
|
Eccentric visual fixation |
|
Reduced OCT-measured foveal thickness |
|
Hypermetropia |
|
Abnormality of the nervous system |
|
Meningioma |
|
Generalized hyperpigmentation |
|
Astrocytoma |
|
Plexiform neurofibroma |
|
Lisch nodules |
|
Tall stature |
|
Axillary freckling |
|
Headache |
|
Memory impairment |
|
Slender long bone |
|
Inguinal freckling |
|
Abnormality of the endocrine system |
|
Abnormality of the respiratory system |
|
Pheochromocytoma |
|
Chronic myelogenous leukemia |
|
Neoplasm of the gastrointestinal tract |
|
Optic nerve glioma |
|
Spinal neurofibromas |
|
Urinary tract neoplasm |
|
Abnormality of the upper urinary tract |
|
Abnormal hair quantity |
|
Neoplasm of the breast |
|
Sarcoma |
|
Gastrointestinal stroma tumor |
|
Carcinoid tumor |
|
Doll-like facies |
|
High pitched voice |
|
Neonatal hypoglycemia |
|
Prolonged neonatal jaundice |
|
Abdominal obesity |
|
Premature skin wrinkling |
|
Microphallus |
|
Cutaneous photosensitivity |
|
Hypermelanotic macule |
|
Abnormality of neutrophils |
|
Pyloric stenosis |
|
Liver abscess |
|
Inflammatory abnormality of the eye |
|
Mediastinal lymphadenopathy |
|
Hyperhomocystinemia |
|
Pulmonary embolism |
|
Arterial thrombosis |
|
Psychosis |
|
Hypopigmentation of the skin |
|
Pancreatitis |
|
Subcutaneous hemorrhage |
|
Esophageal varix |
|
Abnormal cerebral white matter morphology |
|
Obsessive-compulsive trait |
|
Malar rash |
|
Livedo reticularis |
|
Cerebral venous sinus thrombosis |
|
Gout |
|
Cystinuria |
|
Abnormal urinary odor |
|
Hypocitraturia |
|
Flank pain |
|
Cystine crystalluria |
|
Hyperuricosuria |
|
Microretrognathia |
|
Round face |
|
Severe global developmental delay |
|
Cat cry |
|
Small hand |
|
Decreased motor nerve conduction velocity |
|
Sensorimotor neuropathy |
|
Decreased/absent ankle reflexes |
|
Distal amyotrophy |
|
Scapuloperoneal weakness |
|
Exercise-induced myalgia |
|
Thin vermilion border |
|
Abnormal cochlea morphology |
|
Narrow nasal bridge |
|
Chorioretinal abnormality |
|
Hypotelorism |
|
Abnormal vitreous humor morphology |
|
Venous insufficiency |
|
Intellectual disability, progressive |
|
Anterior chamber synechiae |
|
Remnants of the hyaloid vascular system |
|
Aplasia/Hypoplasia of the lens |
|
Neoplasm of the eye |
|
Uterine rupture |
|
Vascular neoplasm |
|
Decreased DLCO |
|
Cholestasis |
|
Perinuclear antineutrophil antibody positivity |
|
Hepatocellular carcinoma |
|
Reduced serum alpha-1-antitrypsin |
|
Bronchitis |
|
Panniculitis |
|
Ophthalmoparesis |
|
Hyperkalemia |
|
Episodic flaccid weakness |
|
Periodic hyperkalemic paralysis |
|
Cerebral palsy |
|
Abnormality of the ureter |
|
Pursed lips |
|
Trismus |
|
Microcornea |
|
Abnormal eyebrow morphology |
|
Blepharospasm |
|
Wrist flexion contracture |
|
Prenatal movement abnormality |
|
Weak voice |
|
Pulmonary arterial hypertension |
|
Wormian bones |
|
Coxa valga |
|
Arthrogryposis multiplex congenita |
|
Coxa vara |
|
Elbow dislocation |
|
Shoulder flexion contracture |
|
Hip contracture |
|
Decreased body weight |
|
Flexion contracture of toe |
|
Long eyelashes in irregular rows |
|
Aplasia/Hypoplasia affecting the eye |
|
Decreased testicular size |
|
Distichiasis |
|
Metatarsus valgus |
|
Increased number of teeth |
|
Elevated circulating aldolase concentration |
|
Abnormally ossified vertebrae |
|
Abnormally straight spine |
|
Testicular torsion |
|
Abnormality of the clavicle |
|
Abnormal metacarpal morphology |
|
Hypoplastic cervical vertebrae |
|
Neonatal short-limb short stature |
|
Short finger |
|
Proximal placement of thumb |
|
Large earlobe |
|
Symphalangism affecting the phalanges of the hand |
|
Midface retrusion |
|
Underdeveloped nasal alae |
|
Blue sclerae |
|
Hitchhiker thumb |
|
Lumbar hyperlordosis |
|
Cervical kyphosis |
|
Thoracolumbar kyphosis |
|
Cervical spina bifida |
|
Ulnar deviation of finger |
|
Joint contracture |
|
Camptodactyly of finger |
|
Stenosis of the external auditory canal |
|
Narrow nose |
|
Hyperextensible skin |
|
Spinal cord compression |
|
Visceral angiomatosis |
|
Abnormal EKG |
|
Pulmonary artery stenosis |
|
Abnormality of the spleen |
|
Abnormal bleeding |
|
Abnormality of coagulation |
|
Dilatation of the renal pelvis |
|
Aplasia of the semicircular canal |
|
Juvenile myelomonocytic leukemia |
|
Delayed menarche |
|
Triangular face |
|
Thickened helices |
|
Palmar pits |
|
Plantar pits |
|
Bifid ribs |
|
Anterior rib cupping |
|
Basal cell carcinoma |
|
Vertebral fusion |
|
Calcification of falx cerebri |
|
Vertebral wedging |
|
Odontogenic keratocysts of the jaw |
|
Orofacial cleft |
|
Abnormality of the sense of smell |
|
Bridged sella turcica |
|
Ovarian fibroma |
|
Medulloblastoma |
|
Cardiac fibroma |
|
Male pseudohermaphroditism |
|
Ambiguous genitalia |
|
Infertility |
|
Abnormality of the urethra |
|
Ectopic ossification |
|
Limitation of joint mobility |
|
Abnormal hallux morphology |
|
Fused cervical vertebrae |
|
Abnormality of the first metatarsal bone |
|
Ectopic ossification in muscle tissue |
|
Ectopic ossification in ligament tissue |
|
Osteochondroma |
|
Increased susceptibility to fractures |
|
Abnormal femoral neck morphology |
|
Aplasia/Hypoplasia of the phalanges of the hallux |
|
Clinodactyly |
|
Hip pain |
|
Deep venous thrombosis |
|
Enchondroma |
|
Abnormality of the nose |
|
Multiple lentigines |
|
Gastrointestinal carcinoma |
|
Breast carcinoma |
|
Intestinal obstruction |
|
Gastrointestinal infarctions |
|
Renal cell carcinoma |
|
Pancreatic adenocarcinoma |
|
Enlarged polycystic ovaries |
|
Abnormality of the gastrointestinal tract |
|
Stomach cancer |
|
Neoplasm of the nose |
|
Cervix cancer |
|
Neoplasm of the colon |
|
Neoplasm of the lung |
|
Biliary tract neoplasm |
|
Melanonychia |
|
Abnormal pigmentation of the oral mucosa |
|
Neoplasm of the rectum |
|
Esophageal neoplasm |
|
Neoplasm of the small intestine |
|
Synostosis of carpal bones |
|
Wide anterior fontanel |
|
Severe muscular hypotonia |
|
Very long chain fatty acid accumulation |
|
Profound global developmental delay |
|
Multicystic kidney dysplasia |
|
Premature birth |
|
Polymicrogyria |
|
Clitoral hypertrophy |
|
Underdeveloped supraorbital ridges |
|
Abnormality of the tongue |
|
Brushfield spots |
|
Primary adrenal insufficiency |
|
Dysfunction of lateral corticospinal tracts |
|
Displacement of the urethral meatus |
|
White forelock |
|
Abnormality of the pulmonary artery |
|
Abnormality of finger |
|
Spastic paraplegia |
|
Tracheomalacia |
|
Abnormality of the upper limb |
|
Cutaneous finger syndactyly |
|
Tented upper lip vermilion |
|
White hair |
|
Rectovaginal fistula |
|
Triphalangeal thumb |
|
Rectoperineal fistula |
|
Anteriorly placed anus |
|
Toe clinodactyly |
|
Abnormality of the vagina |
|
Limbal dermoid |
|
Toe syndactyly |
|
Abnormal tragus morphology |
|
Partial duplication of thumb phalanx |
|
Aplasia/Hypoplasia of the 3rd toe |
|
Urethral valve |
|
Absent toe |
|
Lower limb asymmetry |
|
White eyebrow |
|
White eyelashes |
|
Congenital sensorineural hearing impairment |
|
Synophrys |
|
Abnormality of the hair |
|
Hypoplasia of the maxilla |
|
Acanthosis nigricans |
|
Cerebellar hypoplasia |
|
Abnormal sacrum morphology |
|
Narrow internal auditory canal |
|
Abnormality of the penis |
|
Furrowed tongue |
|
Abnormality of the thyroid gland |
|
Goiter |
|
Cavernous hemangioma |
|
Abnormal cerebellum morphology |
|
Hamartomatous polyposis |
|
Follicular thyroid carcinoma |
|
Adenoma sebaceum |
|
Fibroma |
|
Lipoma |
|
Bone cyst |
|
Endometrial carcinoma |
|
Papilloma |
|
Neoplasm of the central nervous system |
|
Neoplasm of the thyroid gland |
|
Conjunctival hamartoma |
|
Papule |
|
Colorectal polyposis |
|
Neonatal hyperbilirubinemia |
|
Unconjugated hyperbilirubinemia |
|
Pruritus |
|
Kernicterus |
|
Enamel hypoplasia |
|
Abnormal auditory evoked potentials |
|
High-pitched cry |
|
Abnormal diaphysis morphology |
|
Large hands |
|
Tapered finger |
|
Broad finger |
|
Wide nose |
|
Hypoplastic fingernail |
|
Progressive spasticity |
|
Narrow iliac wings |
|
Premature loss of teeth |
|
Short chordae tendineae of the tricuspid valve |
|
Pseudoepiphyses of the metacarpals |
|
Short metacarpal |
|
Conical incisor |
|
Short chordae tendineae of the mitral valve |
|
Abnormal tricuspid valve morphology |
|
Abnormality of neuronal migration |
|
Exaggerated median tongue furrow |
|
Advanced eruption of teeth |
|
Aplasia/Hypoplasia of the corpus callosum |
|
Atonic seizure |
|
Abnormal lacrimal duct morphology |
|
Abnormality of the middle ear |
|
Lop ear |
|
Mixed hearing impairment |
|
Atresia of the external auditory canal |
|
Abnormality of the middle ear ossicles |
|
Hypoplasia of the cochlea |
|
Branchial anomaly |
|
Branchial cyst |
|
Enlarged vestibular aqueduct |
|
Enlarged cochlear aqueduct |
|
Aplasia/Hypoplasia of the cochlea |
|
Branchial sinus |
|
Ureteropelvic junction obstruction |
|
Abnormality of the outer ear |
|
Lacrimal duct aplasia |
|
Euthyroid goiter |
|
Morphological abnormality of the lateral semicircular canal |
|
Gustatory lacrimation |
|
Dilatation of renal calices |
|
Lip telangiectasia |
|
Tongue telangiectasia |
|
Nasal mucosa telangiectasia |
|
Telangiectasia |
|
Spontaneous, recurrent epistaxis |
|
Pulmonary arteriovenous malformation |
|
Hepatic arteriovenous malformation |
|
Abnormality of cardiovascular system physiology |
|
Cerebral hemorrhage |
|
Subarachnoid hemorrhage |
|
Cerebral arteriovenous malformation |
|
Gastrointestinal arteriovenous malformation |
|
Retinal telangiectasia |
|
Peripheral arteriovenous fistula |
|
Intestinal polyposis |
|
Coronal craniosynostosis |
|
Delayed cranial suture closure |
|
Plagiocephaly |
|
Lacrimal duct stenosis |
|
Abnormality of the antihelix |
|
Prominent crus of helix |
|
Bifid uvula |
|
Broad toe |
|
Parietal foramina |
|
Proximal radio-ulnar synostosis |
|
Duplication of the distal phalanx of the hallux |
|
Abnormal hair pattern |
|
Large for gestational age |
|
Enlarged kidney |
|
Abnormality of earlobe |
|
Choroideremia |
|
Hemihypertrophy |
|
Visceromegaly |
|
Postauricular pit |
|
Accelerated skeletal maturation |
|
Large placenta |
|
Posterior helix pit |
|
Multiple small medullary renal cysts |
|
Anterior creases of earlobe |
|
Long umbilical cord |
|
Subchorionic septal cyst |
|
Linear earlobe crease |
|
Asymmetric growth |
|
Infra-orbital crease |
|
Abnormality of the shape of the midface |
|
Ureteral duplication |
|
Facial hemangioma |
|
Otosclerosis |
|
Diastasis recti |
|
Nephroblastoma |
|
Hepatoblastoma |
|
Neuroblastoma |
|
Prominent metopic ridge |
|
Elevated alpha-fetoprotein |
|
Adrenocortical carcinoma |
|
Adrenocortical cytomegaly |
|
Congenital megaureter |
|
Abnormal pancreas morphology |
|
Large intestinal polyposis |
|
Pseudohypoparathyroidism |
|
Bone pain |
|
Generalized osteosclerosis |
|
Mandibular osteomyelitis |
|
Abnormal leukocyte morphology |
|
Osteosclerosis of the base of the skull |
|
Abnormality of multiple cell lineages in the bone marrow |
|
Tooth abscess |
|
Cranial nerve compression |
|
Optic disc coloboma |
|
Missing ribs |
|
Abnormality of skin pigmentation |
|
Pachygyria |
|
Partial agenesis of the corpus callosum |
|
Hiatus hernia |
|
Block vertebrae |
|
Butterfly vertebrae |
|
Sparse lateral eyebrow |
|
Supernumerary ribs |
|
Premaxillary Prominence |
|
Moderate global developmental delay |
|
Infantile spasms |
|
Hypoplasia of the ulna |
|
Long nose |
|
Butterfly vertebral arch |
|
Reduced number of intrahepatic bile ducts |
|
Acanthocytosis |
|
Fat malabsorption |
|
Abnormal circulating apolipoprotein concentration |
|
Hyperbilirubinemia |
|
Hypoalbuminemia |
|
Hypocholesterolemia |
|
Decreased HDL cholesterol concentration |
|
Decreased LDL cholesterol concentration |
|
Low levels of vitamin A |
|
Hypotriglyceridemia |
|
Rod-cone dystrophy |
|
Scotoma |
|
Gait ataxia |
|
Broad-based gait |
|
Upper motor neuron dysfunction |
|
Impaired vibratory sensation |
|
Impaired distal proprioception |
|
Hypopigmentation of the fundus |
|
Prolonged prothrombin time |
|
Distal lower limb muscle weakness |
|
Decreased erythrocyte sedimentation rate |
|
Keratoconjunctivitis sicca |
|
Corneal ulceration |
|
Abnormal localization of kidney |
|
Nail dysplasia |
|
Abnormal oral mucosa morphology |
|
Epispadias |
|
Abnormal oral frenulum morphology |
|
Capitate-hamate fusion |
|
Dextrocardia |
|
Situs inversus totalis |
|
Hydroureter |
|
Abnormality of bone marrow cell morphology |
|
Nephronophthisis |
|
Abnormality of the sternum |
|
Postaxial hand polydactyly |
|
Short foot |
|
Postaxial foot polydactyly |
|
Cone-shaped epiphysis |
|
Small scrotum |
|
Facial cleft |
|
Encephalocele |
|
Dysphasia |
|
Multiple enchondromatosis |
|
Thyroid hypoplasia |
|
Preauricular hair displacement |
|
Branchial fistula |
|
Short face |
|
Posteriorly rotated ears |
|
Absent eyelashes |
|
Long eyelashes |
|
Curly eyelashes |
|
Short 1st metacarpal |
|
Abnormally low-pitched voice |
|
Hypoplastic labia majora |
|
Phthisis bulbi |
|
Cutis marmorata |
|
Hypoplastic nipples |
|
Severe postnatal growth retardation |
|
Truncal obesity |
|
Volvulus |
|
Oligodactyly |
|
Median cleft lip |
|
Broad philtrum |
|
Depressed nasal tip |
|
Panhypopituitarism |
|
Abnormal aortic morphology |
|
Hyposmia |
|
Single median maxillary incisor |
|
Median cleft lip and palate |
|
Cyclopia |
|
Aplasia/Hypoplasia involving the nose |
|
Spinal dysraphism |
|
Spinal cord tumor |
|
Intestinal atresia |
|
Bilateral cleft lip |
|
Absent nares |
|
Morphological abnormality of the semicircular canal |
|
Esophageal atresia |
|
Ectopic anus |
|
Nail dystrophy |
|
Anisometropia |
|
Arachnoid cyst |
|
Corneal erosion |
|
Brachyturricephaly |
|
Acrobrachycephaly |
|
Shallow orbits |
|
Cervical vertebrae fusion (C5/C6) |
|
Aplasia/Hypoplasia of the thumb |
|
Ectropion |
|
Erythroderma |
|
Lack of skin elasticity |
|
Gangrene |
|
Abnormal palate morphology |
|
Chondrocalcinosis |
|
Thickened skin |
|
Woolly hair |
|
Dilatation |
|
Tarsal synostosis |
|
Exostoses |
|
Complete duplication of thumb phalanx |
|
Abnormality of the shoulder |
|
Ankyloblepharon |
|
Long thorax |
|
Congenital hepatic fibrosis |
|
Sloping forehead |
|
Oligohydramnios |
|
Lobar holoprosencephaly |
|
Urethral atresia |
|
Pancreatic cysts |
|
Asplenia |
|
Accessory spleen |
|
Anencephaly |
|
Cystic liver disease |
|
Aplasia/Hypoplasia of the tongue |
|
True hermaphroditism |
|
Pancreatic fibrosis |
|
Diaphragmatic paralysis |
|
Central nervous system degeneration |
|
Misalignment of teeth |
|
Generalized dystonia |
|
Abnormality of the calvaria |
|
Intellectual disability, borderline |
|
Non-midline cleft lip |
|
Trigonocephaly |
|
Abnormal eyelash morphology |
|
Ectrodactyly |
|
Abnormality of female external genitalia |
|
Congenital muscular torticollis |
|
Abnormality of periauricular region |
|
Abnormality of the lower limb |
|
Narrow pelvis bone |
|
Deviation of finger |
|
Pointed helix |
|
Abnormal toenail morphology |
|
Irregular hyperpigmentation |
|
Partial albinism |
|
Piebaldism |
|
Astigmatism |
|
Ocular albinism |
|
Iris hypopigmentation |
|
Pterygium |
|
Anal mucosal leukoplakia |
|
Subungual hyperkeratotic fragments |
|
Acrokeratosis |
|
Skin vesicle |
|
Ambiguous genitalia, male |
|
Perineal hypospadias |
|
Urogenital sinus anomaly |
|
Decreased activity of mitochondrial complex I |
|
Proximal tubulopathy |
|
Optic disc pallor |
|
Reduced eye contact |
|
Optic neuropathy |
|
Leukoencephalopathy |
|
Leukodystrophy |
|
Increased CSF lactate |
|
Lactic acidosis |
|
Increased serum pyruvate |
|
Mitochondrial myopathy |
|
Paroxysmal involuntary eye movements |
|
Abnormal mitochondria in muscle tissue |
|
Focal T2 hyperintense brainstem lesion |
|
Fetal distress |
|
Muscular dystrophy |
|
Progressive proximal muscle weakness |
|
Reduced muscle collagen VI |
|
Interphalangeal joint contracture of finger |
|
Distal muscle weakness |
|
Quadriceps muscle weakness |
|
Ankle flexion contracture |
|
Increased muscle lipid content |
|
Cigarette-paper scars |
|
Hypoventilation |
|
Axial muscle weakness |
|
Gowers sign |
|
Generalized amyotrophy |
|
Curved toe phalanx |
|
Reduced maximal expiratory pressure |
|
Keratosis pilaris |
|
Single umbilical artery |
|
Decreased calvarial ossification |
|
Disproportionate short-limb short stature |
|
Congenital giant melanocytic nevus |
|
Anhidrosis |
|
Poor wound healing |
|
Hypertrichosis |
|
Cutaneous melanoma |
|
Hypophosphatemic rickets |
|
Premature thelarche |
|
Impacted tooth |
|
Fingernail dysplasia |
|
Transposition of the great arteries |
|
Syncope |
|
Retinal hemorrhage |
|
Dystrophic toenail |
|
Broad nail |
|
Eosinophilia |
|
Supernumerary nipple |
|
Osteolysis |
|
Absent hand |
|
Abnormal hand morphology |
|
Retinal vascular proliferation |
|
Abnormal blistering of the skin |
|
Ridged fingernail |
|
Verrucae |
|
Orotic acid crystalluria |
|
Bilateral tonic-clonic seizure |
|
Status epilepticus |
|
Oil-drop brown pigmentation of the corneal limbus |
|
Mitral stenosis |
|
Atherosclerosis |
|
Ocular hypertension |
|
Amyloidosis |
|
Black pigment gallstones |
|
Methemoglobinemia |
|
Corneal astigmatism |
|
Prostatic calculus |
|
Coronary artery calcification |
|
Intervertebral disk calcification |
|
Ochronosis |
|
Elevated urinary homogentisic acid |
|
Calcification of cartilage |
|
Prostatitis |
|
Aortic valve stenosis |
|
Aortic valve calcification |
|
Thickened Achilles tendon |
|
Pigmentation of the sclera |
|
Dark urine |
|
Tendon rupture |
|
Cartilage destruction |
|
Lower eyelid coloboma |
|
Hypoplasia of the radius |
|
Aplasia/Hypoplasia of the radius |
|
Sparse lower eyelashes |
|
Unilateral renal agenesis |
|
Phocomelia |
|
Deep plantar creases |
|
Cortical diaphyseal thickening of the upper limbs |
|
Macrodactyly |
|
Deep palmar crease |
|
Growth hormone excess |
|
Broad foot |
|
Pituitary growth hormone cell adenoma |
|
Facial shape deformation |
|
Constrictive median neuropathy |
|
Broad jaw |
|
Asthenia |
|
Pituitary macroadenoma |
|
Increased circulating insulin-like growth factor 1 concentration |
|
Palpebral edema |
|
Dysmenorrhea |
|
Impotence |
|
Adrenal insufficiency |
|
Oligomenorrhea |
|
Visual field defect |
|
Vertebral compression fracture |
|
Intestinal polyp |
|
Pituitary prolactin cell adenoma |
|
Pituitary hypothyroidism |
|
Cutis gyrata of scalp |
|
Restless legs |
|
Night sweats |
|
Acral overgrowth |
|
Insulin resistance |
|
Increased circulating prolactin concentration |
|
Multinodular goiter |
|
Skin tags |
|
Abnormal heart valve physiology |
|
Decreased libido |
|
Dysuria |
|
Hypersomnia |
|
Galactorrhea |
|
Sleep-wake cycle disturbance |
|
Abnormal temper tantrums |
|
Vocal cord polyp |
|
Polyembolokoilamania |
|
Onychotillomania |
|
Impulsivity |
|
Short rem sleep |
|
Square face |
|
Broad palm |
|
Delayed eruption of primary teeth |
|
Abnormal tracheobronchial morphology |
|
Abnormal pineal melatonin secretion |
|
Velopharyngeal insufficiency |
|
Precocious menopause |
|
Miosis |
|
Hammertoe |
|
Heart block |
|
Hypergonadotropic hypogonadism |
|
Metabolic acidosis |
|
Ketonuria |
|
Elevated serum anion gap |
|
3-hydroxyisovaleric aciduria |
|
Elevated circulating isovalerylcarnitine concentration |
|
Confusion |
|
Acute pancreatitis |
|
Renal Fanconi syndrome |
|
Abnormal globus pallidus morphology |
|
Shawl scrotum |
|
Short palm |
|
Single transverse palmar crease |
|
Abnormality of the cervical spine |
|
Abnormal vertebral segmentation and fusion |
|
Abnormality of the skin |
|
Dyspareunia |
|
Calvarial hyperostosis |
|
Cortical irregularity |
|
Cortical thickening of long bone diaphyses |
|
Periosteal thickening of long tubular bones |
|
Increased circulating antibody level |
|
Bilateral talipes equinovarus |
|
Congenital finger flexion contractures |
|
Absent palmar crease |
|
Ulnar deviation of the wrist |
|
Overlapping fingers |
|
Progressive spastic quadriplegia |
|
Diaminoaciduria |
|
Rocker bottom foot |
|
Abnormality of dental color |
|
Aniridia |
|
Scanning speech |
|
Intestinal bleeding |
|
Abnormality of the vasculature |
|
Dilated fourth ventricle |
|
Enlarged posterior fossa |
|
Mild fetal ventriculomegaly |
|
Enlarged fetal cisterna magna |
|
Truncal ataxia |
|
Tachypnea |
|
Elevated plasma citrulline |
|
Argininosuccinic aciduria |
|
Monilethrix |
|
Increased circulating argininosuccinic acid |
|
Self-mutilation |
|
Thrombocytosis |
|
Diarrhea |
|
Patchy alopecia |
|
Global brain atrophy |
|
Pili torti |
|
Chronic pancreatitis |
|
Periventricular leukomalacia |
|
Focal T2 hyperintense basal ganglia lesion |
|
Trichorrhexis nodosa |
|
Hyperglutaminemia |
|
Episodic ammonia intoxication |
|
Orbital craniosynostosis |
|
Short lower limbs |
|
Blue nevus |
|
Skin erosion |
|
Chorioretinal dystrophy |
|
Macrodontia |
|
Weak cry |
|
Narrow palm |
|
Slender toe |
|
Thick hair |
|
Biliary tract abnormality |
|
Abnormality of urine homeostasis |
|
Neonatal cholestatic liver disease |
|
Acholic stools |
|
Short clavicles |
|
Decreased skull ossification |
|
Hypoplastic scapulae |
|
Dystrophic fingernails |
|
Ectopia pupillae |
|
Ebstein anomaly of the tricuspid valve |
|
Imperforate tricuspid valve |
|
Atrial fibrillation |
|
Cupped ear |
|
Ectropion of lower eyelids |
|
Oral leukoplakia |
|
Neoplasm of the pancreas |
|
Bone marrow hypocellularity |
|
Esophageal stenosis |
|
Aplastic/hypoplastic toenail |
|
Rough bone trabeculation |
|
Gonadal dysgenesis |
|
Short columella |
|
Mild global developmental delay |
|
Alacrima |
|
Orthostatic hypotension |
|
Tachycardia |
|
Abnormality of the peritoneum |
|
Abnormality of thumb phalanx |
|
Submucous cleft hard palate |
|
Short attention span |
|
Anal stenosis |
|
Auditory hypersensitivity |
|
Decreased response to growth hormone stimulation test |
|
Acute lymphoblastic leukemia |
|
Long penis |
|
Abnormality of the hypothalamus-pituitary axis |
|
Neoplasm of the nervous system |
|
Spastic tetraparesis |
|
Abnormal pattern of respiration |
|
Choreoathetosis |
|
Osteolytic defects of the middle phalanx of the 4th toe |
|
Adrenocortical hypoplasia |
|
Hypogonadism |
|
Prominent sternum |
|
Pulmonary hypoplasia |
|
Aplasia/Hypoplasia of the diaphragm |
|
Hypoxemia |
|
Small cerebral cortex |
|
Abnormal cortical gyration |
|
Colpocephaly |
|
Macular hypoplasia |
|
Lissencephaly |
|
Prominent nose |
|
Increased circulating ferritin concentration |
|
Increased serum iron |
|
Pneumonia |
|
Immunologic hypersensitivity |
|
Mastocytosis |
|
Lichenification |
|
Neutral hyperaminoaciduria |
|
Abnormal urinary color |
|
Elevated urinary indican level |
|
Glossitis |
|
4-Hydroxyphenylpyruvic aciduria |
|
4-Hydroxyphenylacetic aciduria |
|
Abnormality of tyrosine metabolism |
|
Myopathic facies |
|
Weakness of muscles of respiration |
|
Poor appetite |
|
Abnormality of skeletal morphology |
|
Fatigable weakness of bulbar muscles |
|
Cor pulmonale |
|
Generalized muscle weakness |
|
Shoulder girdle muscle weakness |
|
Intercostal muscle weakness |
|
Impaired mastication |
|
Knee flexion contracture |
|
Hypoplasia of the musculature |
|
Nasogastric tube feeding in infancy |
|
Aspiration pneumonia |
|
Hypercapnia |
|
Flexion contracture of finger |
|
Methylmalonic aciduria |
|
Neurofibromas |
|
Abnormal hepatic glycogen storage |
|
Aplasia of the pectoralis major muscle |
|
Aplasia/Hypoplasia involving the metacarpal bones |
|
Breast aplasia |
|
Thick upper lip vermilion |
|
Hypoplastic frontal sinuses |
|
Vitreoretinopathy |
|
Sparse eyelashes |
|
Sparse eyebrow |
|
Elevated urinary catecholamines |
|
Lymphadenopathy |
|
Abdominal distention |
|
Elevated circulating catecholamine level |
|
Abdominal mass |
|
Anemic pallor |
|
Horner syndrome |
|
Pathologic fracture |
|
Elevated urinary homovanillic acid |
|
Elevated urinary vanillylmandelic acid |
|
Increased circulating lactate dehydrogenase concentration |
|
Antalgic gait |
|
Opsoclonus |
|
Periorbital ecchymosis with tarsal plate sparing |
|
Intellectual disability, profound |
|
Gray matter heterotopia |
|
Abnormality of the ilium |
|
Abnormality of the sacroiliac joint |
|
Halberd-shaped pelvis |
|
Abnormal enchondral ossification |
|
Severe short stature |
|
Abnormal intervertebral disk morphology |
|
Hypoplastic pubic bone |
|
Hypoplastic ischia |
|
Squared iliac bones |
|
Hypoplastic vertebral bodies |
|
Horizontal supranuclear gaze palsy |
|
Elevated maternal serum alpha-fetoprotein |
|
Fetal ultrasound soft marker |
|
Porencephaly |
|
Duodenal stenosis |
|
Gastrointestinal atresia |
|
Intestinal hypoplasia |
|
Maternal diabetes |
|
Hypoplastic aortic arch |
|
Abnormality of chromosome segregation |
|
Mitral atresia |
|
Annular pancreas |
|
Long hallux |
|
Cerebral atrophy |
|
Abnormality of the anus |
|
Broad columella |
|
Retinal dystrophy |
|
Cerebellar vermis hypoplasia |
|
Molar tooth sign on MRI |
|
Multiple long-bone exostoses |
|
Cone-shaped epiphyses of the phalanges of the hand |
|
Cyanosis |
|
Tricuspid regurgitation |
|
Chylopericardium |
|
Stridor |
|
Abnormality of the antitragus |
|
Hemiparesis |
|
Relative macrocephaly |
|
Abnormality of male external genitalia |
|
Recurrent hypoglycemia |
|
Abnormality of the calcaneus |
|
Shoulder dimple |
|
Abnormal appendicular skeleton morphology |
|
Premature adrenarche |
|
Upper limb asymmetry |
|
Cafe-au-lait spot |
|
Postnatal microcephaly |
|
Generalized neonatal hypotonia |
|
Retrobulbar optic neuritis |
|
Macular degeneration |
|
Spastic diplegia |
|
Absence of the sacrum |
|
Sirenomelia |
|
Vaginal hernia |
|
Abnormal choroid morphology |
|
Hemianopia |
|
Abnormality of the musculature |
|
Cervical ribs |
|
Fibular aplasia |
|
Absent radius |
|
Axial malrotation of the kidney |
|
Aplasia/Hypoplasia of the ulna |
|
Aplasia/Hypoplasia of the patella |
|
Aplasia/hypoplasia of the humerus |
|
Nevus flammeus of the forehead |
|
Tibial torsion |
|
Tracheal atresia |
|
Tracheal stenosis |
|
Renal agenesis |
|
Abnormality of the pancreas |
|
Occipital encephalocele |
|
Cranial hyperostosis |
|
Thyroid carcinoma |
|
Upper airway obstruction |
|
Subglottic stenosis |
|
Bronchomalacia |
|
Elevated pulmonary artery pressure |
|
Polyneuropathy |
|
Upper limb muscle weakness |
|
Upper limb amyotrophy |
|
Upper limb pain |
|
Syndactyly |
|
Redundant neck skin |
|
Short palpebral fissure |
|
Hypoesthesia |
|
Overgrowth |
|
Asymmetry of the thorax |
|
Abnormal subcutaneous fat tissue distribution |
|
Epidermal nevus |
|
Lymphangioma |
|
Rib exostoses |
|
Thrombophlebitis |
|
Exostosis of the external auditory canal |
|
Hamartoma |
|
Venous malformation |
|
Capillary malformation |
|
Pulmonary cyst |
|
Pulmonary bulla |
|
Verrucous epidermal nevus |
|
Bronchogenic cyst |
|
Renal cyst |
|
Abnormality of the wrist |
|
Myofibrillar myopathy |
|
Central heterochromia |
|
Retinal nonattachment |
|
Retinal hamartoma |
|
Thymus hyperplasia |
|
Testicular neoplasm |
|
Neoplasm of the thymus |
|
Ovarian neoplasm |
|
Aplasia of the abdominal wall musculature |
|
Congenital posterior urethral valve |
|
Severe sensorineural hearing impairment |
|
Concave nail |
|
Deep-set nails |
|
Oculomotor apraxia |
|
Athetosis |
|
Cutis laxa |
|
Progressive hearing impairment |
|
Loss of ambulation |
|
Femoral bowing |
|
Fractures of the long bones |
|
Biconcave vertebral bodies |
|
Enlarged vertebral pedicles |
|
Multiple rib fractures |
|
Abnormality of long bone morphology |
|
Small for gestational age |
|
Morphological central nervous system abnormality |
|
Dislocated radial head |
|
Somatic sensory dysfunction |
|
Calcification of the interosseus membrane of the forearm |
|
Hyperplastic callus formation |
|
Trigeminal neuralgia |
|
Tetraparesis |
|
Brain stem compression |
|
Syringomyelia |
|
Thoracic hypoplasia |
|
Rhizomelia |
|
Noncommunicating hydrocephalus |
|
Basilar invagination |
|
Thin ribs |
|
Dentinogenesis imperfecta |
|
Vocal cord paresis |
|
Aggressive behavior |
|
Disinhibition |
|
Fatigable weakness of swallowing muscles |
|
Heparan sulfate excretion in urine |
|
Hirsutism |
|
Hyperactive deep tendon reflexes |
|
Hyperactivity |
|
Hyperorality |
|
Hypersexuality |
|
Obstructive sleep apnea |
|
Progressive neurologic deterioration |
|
Recurrent sinopulmonary infections |
|
Reduced left ventricular ejection fraction |
|
Respiratory tract infection |
|
Retinal degeneration |
|
Adenoiditis |
|
Brain imaging abnormality |
|
Constriction of peripheral visual field |
|
Intermittent diarrhea |
|
Recurrent tonsillitis |
|
Urinary glycosaminoglycan excretion |
|
Functional abnormality of the gastrointestinal tract |
|
Xanthomatosis |
|
Pulmonary fibrosis |
|
Polyclonal elevation of IgM |
|
Multiple myeloma |
|
Elevated circulating C-reactive protein concentration |
|
Paraproteinemia |
|
Splenic rupture |
|
Splenic infarction |
|
Decreased beta-glucocerebrosidase level |
|
Leukopenia |
|
Abnormal bone structure |
|
Erlenmeyer flask deformity of the femurs |
|
Elevated circulating CCL18 level |
|
Elevated circulating Angiotensin-converting enzyme concentration |
|
Abnormal macular morphology |
|
Abnormal pericardium morphology |
|
Pancytopenia |
|
Abnormality of the scrotum |
|
Broad nasal tip |
|
Decreased beta-galactosidase activity |
|
Encephalomalacia |
|
Gastroschisis |
|
Gastrostomy tube feeding in infancy |
|
Generalized hypotonia |
|
Bilateral tonic-clonic seizure with generalized onset |
|
Limb undergrowth |
|
Oral aversion |
|
Retinopathy of prematurity |
|
Unsteady gait |
|
Myelomeningocele |
|
Vestibular areflexia |
|
Camptodactyly |
|
Elbow contracture |
|
Aplasia/Hypoplasia of the colon |
|
Vestibular dysfunction |
|
Peripheral visual field loss |
|
Infantile muscular hypotonia |
|
Delayed ability to walk |
|
Progressive night blindness |
|
Bone spicule pigmentation of the retina |
|
Posterior subcapsular cataract |
|
Attenuation of retinal blood vessels |
|
Photopsia |
|
Maturity-onset diabetes of the young |
|
Freckling |
|
Giant melanosomes in melanocytes |
|
Hypoplasia of the fovea |
|
Phenylalaninuria |
|
Hyperphenylalaninemia |
|
Musty odor |
|
Lower limb spasticity |
|
Cerebral visual impairment |
|
Increased skull ossification |
|
Broad long bones |
|
Short phalanx of finger |
|
Cerebral hypoplasia |
|
Thin nail |
|
Pyridoxine-responsive sideroblastic anemia |
|
Almond-shaped palpebral fissure |
|
Abnormal renal morphology |
|
Bicornuate uterus |
|
Meckel diverticulum |
|
Aplasia/Hypoplasia of fingers |
|
Aplasia/Hypoplasia of the uvula |
|
Absent testis |
|
Decreased fertility in males |
|
Abnormality of the preputium |
|
Left ventricular systolic dysfunction |
|
Edema |
|
Exertional dyspnea |
|
Orthopnea |
|
Thromboembolic stroke |
|
Fasciitis |
|
Myositis |
|
Muscular edema |
|
Pleuritis |
|
Hemiplegia |
|
Abnormal oral cavity morphology |
|
Pulmonary infiltrates |
|
Granulomatosis |
|
Elevated erythrocyte sedimentation rate |
|
Polyarticular arthritis |
|
Increased inflammatory response |
|
Cytoplasmic antineutrophil antibody positivity |
|
Anti-proteinase 3 antibody positivity |
|
Anti-myeloperoxidase antibody positivity |
|
Anti-neutrophil elastase antibody positivity |
|
Ureteral stenosis |
|
Pustule |
|
Orchitis |
|
Episcleritis |
|
Angioedema |
|
Persistence of primary teeth |
|
Oliguria |
|
Peritonitis |
|
Anarthria |
|
Excessive salivation |
|
Hydranencephaly |
|
Intermittent claudication |
|
Blood pressure substantially higher in legs than arms |
|
Absent pulse |
|
Arteritis |
|
Renal artery stenosis |
|
Erythema nodosum |
|
Malaise |
|
Amaurosis fugax |
|
Pedal edema |
|
Leukocytosis |
|
Scaling skin on fingertip |
|
Plantar edema |
|
Palmar edema |
|
Conjunctival hyperemia |
|
Strawberry tongue |
|
Lip fissure |
|
Abnormality of nail color |
|
Cholecystitis |
|
Cervical lymphadenopathy |
|
Palmoplantar erythema |
|
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis |
|
Sterile pyuria |
|
Congenital muscular dystrophy |
|
Minicore myopathy |
|
Abnormal muscle fiber morphology |
|
External ophthalmoplegia |
|
Anti-alanyl-tRNA synthetase antibody positivity |
|
Anti-glycyl tRNA-synthetase antibody positivity |
|
Anti-aminoacyl-tRNA synthetase antibody positivity |
|
Anti-isoleucyl tRNA-synthetase antibody positivity |
|
Anti-phenylalanyl tRNA synthetase antibody positivity |
|
Anti-tyrosyl-tRNA synthetase antibody positivity |
|
Anti-asparaginyl-tRNA synthetase antibody positivity |
|
Anti-histidyl tRNA synthetase antibody positivity |
|
Neuromuscular dysphagia |
|
Abnormal atrioventricular conduction |
|
Raynaud phenomenon |
|
Chest tightness |
|
Lymphocytosis |
|
Proximal muscle weakness |
|
Antinuclear antibody positivity |
|
Anti-signal recognition particle antibody positivity |
|
Anti-threonyl-tRNA synthetase antibody positivity |
|
Palmar hyperkeratosis |
|
Gottron's papules |
|
Shawl sign |
|
Anti-SUMO-activating enzyme subunit 1 antibody positivity |
|
Anti-SUMO-activating enzyme subunit 2 antibody positivity |
|
Heliotrope rash |
|
Poikiloderma |
|
Inflammatory myopathy |
|
Facial erythema |
|
Diffuse reticular or finely nodular infiltrations |
|
Sinus tachycardia |
|
V-sign |
|
Lung adenocarcinoma |
|
Anti-MDA5 antibody positivity |
|
Anti-Mi2 antibody positivity |
|
Anti-transcription intermediary factor-1gamma antibody positivity |
|
Anti-SUMO-activating enzyme antibody positivity |
|
Anti-nuclear matrix protein-2 antibody positivity |
|
Non-infectious meningitis |
|
Oral ulcer |
|
Recurrent aphthous stomatitis |
|
Superficial thrombophlebitis |
|
Genital ulcers |
|
Nongranulomatous uveitis |
|
Panuveitis |
|
Positive pathergy test |
|
Epididymitis |
|
Recurrent fever |
|
Optic neuritis |
|
AA amyloidosis |
|
Glomerulonephritis |
|
Tongue atrophy |
|
Pain |
|
Fatty replacement of skeletal muscle |
|
Angulated muscle fibers |
|
Muscle fiber intranuclear inclusion bodies |
|
Anti-cytosolic-5-nucleotidase-1A antibody positivity |
|
Abnormality of the umbilical cord |
|
High maternal circulating alpha-fetoprotein concentration |
|
Abnormal fetal gastrointestinal system morphology |
|
Intestinal perforation |
|
Abnormality of mesentery morphology |
|
Low-grade fever |
|
Abnormal bronchus morphology |
|
Tubulointerstitial nephritis |
|
Elevated plasma branched chain amino acids |
|
Megaloblastic bone marrow |
|
Chronic metabolic acidosis |
|
Glutathione synthetase deficiency |
|
Abnormality of the male genitalia |
|
Abnormality of fontanelles |
|
U-Shaped upper lip vermilion |
|
Erysipelas |
|
Hyperfibrinogenemia |
|
Low back pain |
|
Acute hepatic failure |
|
Increased circulating IgE level |
|
Small nail |
|
Short 2nd finger |
|
Polysplenia |
|
Pancreatic islet-cell hyperplasia |
|
Abnormal adipose tissue morphology |
|
Gluten intolerance |
|
Anti-epidermal transglutaminase antibody positivity |
|
Anti-endomysial antibody positivity |
|
Anti-transglutaminase 6 antibody |
|
Antigliadin antibody positivity |
|
Anti-reticulin antibody positivity |
|
Anti-type VII collagen antibody |
|
Dental enamel pits |
|
Erosion of oral mucosa |
|
Grayish enamel |
|
Increased alpha-globulin |
|
Jaw claudication |
|
Increased circulating interleukin 6 concentration |
|
Elevated circulating osteopontin level |
|
Visual hallucinations |
|
Abdominal aortic aneurysm |
|
Nonproductive cough |
|
Scalp tenderness |
|
Elevated circulating alkaline phosphatase concentration |
|
Hepatic vein thrombosis |
|
Bipedal edema |
|
Hepatic encephalopathy |
|
Vertical supranuclear gaze palsy |
|
Low cholesterol esterification rate |
|
Limb dystonia |
|
Axial dystonia |
|
Foam cells |
|
Bone-marrow foam cells |
|
Progressive gait ataxia |
|
Abnormality of higher mental function |
|
Apathy |
|
Low frustration tolerance |
|
Hypoplasia of the corpus callosum |
|
Intention tremor |
|
Generalized-onset seizure |
|
Cataplexy |
|
Cerebellar vermis atrophy |
|
Focal-onset seizure |
|
Auditory hallucinations |
|
Speech apraxia |
|
Abnormal CNS myelination |
|
Narcolepsy |
|
Fetal ascites |
|
Frontal cortical atrophy |
|
Demyelinating peripheral neuropathy |
|
Duplication of renal pelvis |
|
Macroscopic hematuria |
|
Neoplasm of the liver |
|
Microscopic hematuria |
|
Reduced von Willebrand factor activity |
|
Varicocele |
|
Abnormal uterus morphology |
|
Urinary retention |
|
Xerostomia |
|
Muscle flaccidity |
|
Mydriasis |
|
Diaphragmatic weakness |
|
Subungual hyperkeratosis |
|
Male hypogonadism |
|
Gastric ulcer |
|
Central apnea |
|
Acantholysis |
|
Oral mucosal blisters |
|
Suprabasal cleavage |
|
Anti-desmoglein-1 antibody positivity |
|
Anti-desmoglein-3 antibody positivity |
|
Alopecia of scalp |
|
Urticarial plaque |
|
Paronychia |
|
Proximal femoral epiphysiolysis |
|
Lattice retinal degeneration |
|
Retinal hole |
|
Short hard palate |
|
Milia |
|
Sparse or absent eyelashes |
|
Hypoplasia of the ear cartilage |
|
Decreased serum estradiol |
|
Abnormality of secondary sexual hair |
|
Sparse pubic hair |
|
Osteoporosis of vertebrae |
|
Aplasia/hypoplasia of the uterus |
|
Aplasia/Hypoplasia of the breasts |
|
Communicating hydrocephalus |
|
Episodic tachypnea |
|
Paroxysmal atrial fibrillation |
|
Absent thumb |
|
First degree atrioventricular block |
|
Abnormality of the humerus |
|
Anomalous pulmonary venous return |
|
Mesomelic arm shortening |
|
Severe intrauterine growth retardation |
|
Radial deviation of finger |
|
Absent earlobe |
|
Midface capillary hemangioma |
|
Progressive flexion contractures |
|
Patellar aplasia |
|
Bilateral cleft lip and palate |
|
Abnormality of the mandible |
|
Oligodontia |
|
Aplasia/Hypoplasia of the sacrum |
|
Abnormality of the wing of the ilium |
|
Abnormal hair whorl |
|
Subcutaneous calcification |
|
Aplasia/Hypoplasia of the testes |
|
Squamous cell carcinoma |
|
Spontaneous abortion |
|
Renal neoplasm |
|
Acral lentiginous melanoma |
|
Neoplasm of the oral cavity |
|
Olfactory lobe agenesis |
|
Abnormal intestine morphology |
|
Peters anomaly |
|
Exaggerated cupid's bow |
|
Microtia, second degree |
|
Hypoplasia of the uterus |
|
Clitoral hypoplasia |
|
Congenital hypothyroidism |
|
Iridoretinal coloboma |
|
Intestinal fistula |
|
Bicuspid pulmonary valve |
|
Abnormal pulmonary vein morphology |
|
Lip pit |
|
Lower lip pit |
|
Abnormal salivary gland morphology |
|
Ankyloglossia |
|
Decreased apolipoprotein AI level |
|
Decreased glomerular filtration rate |
|
Acute kidney injury |
|
Stage 5 chronic kidney disease |
|
Premature coronary artery atherosclerosis |
|
Chorioretinal atrophy |
|
Choroidal neovascularization |
|
Abnormal fundus autofluorescence imaging |
|
Macular edema |
|
11 pairs of ribs |
|
Tracheobronchomalacia |
|
Tibial bowing |
|
Short long bone |
|
Fibular hypoplasia |
|
Small abnormally formed scapulae |
|
Poorly ossified cervical vertebrae |
|
Hypoplasia of olfactory tract |
|
Congenital nonbullous ichthyosiform erythroderma |
|
Pain insensitivity |
|
Impaired temperature sensation |
|
Aplasia of the sweat glands |
|
Painless fractures due to injury |
|
Neuropathic arthropathy |
|
Trophic limb changes |
|
Abnormality of humoral immunity |
|
Nail-biting |
|
Abscess |
|
Abnormality of lower limb joint |
|
Unexplained fevers |
|
Recurrent aspiration pneumonia |
|
Abnormality of the autonomic nervous system |
|
Distal sensory impairment |
|
Septic arthritis |
|
Functional motor deficit |
|
Orthostatic hypotension due to autonomic dysfunction |
|
Decreased corneal reflex |
|
Alveolar ridge overgrowth |
|
Tongue pain |
|
Abnormality of the lumbar spine |
|
Abnormal emotion/affect behavior |
|
Corneal scarring |
|
Abnormality of the hand |
|
Abnormal vestibulo-ocular reflex |
|
Sacrococcygeal teratoma |
|
Anterior sacral meningocele |
|
Hemisacrum |
|
Abdominal cramps |
|
Neurogenic bladder |
|
Septate vagina |
|
Presacral teratoma |
|
Anal fistula |
|
Sacral lipoma |
|
Dermoid cyst |
|
Mesenteric cyst |
|
Sigmoid kidney |
|
Epidermoid cyst |
|
Pierre-Robin sequence |
|
Impaired ocular abduction |
|
Glandular hypospadias |
|
Abnormality of the larynx |
|
Laryngeal stenosis |
|
Disproportionate short stature |
|
Mesomelic/rhizomelic limb shortening |
|
Female pseudohermaphroditism |
|
Accessory oral frenulum |
|
Midline facial capillary hemangioma |
|
Endocardial fibroelastosis |
|
Abnormal mitochondrial morphology |
|
Laryngeal hypoplasia |
|
Bifid tongue |
|
Cryptophthalmos |
|
Malformed lacrimal ducts |
|
Cutaneous syndactyly |
|
Vaginal atresia |
|
Cleft ala nasi |
|
Midline nasal groove |
|
Wide pubic symphysis |
|
Testicular dysgenesis |
|
Abnormal carpal morphology |
|
Abnormal morphology of the radius |
|
Radial bowing |
|
Mesomelia |
|
Ulnar bowing |
|
Short tibia |
|
Limited wrist movement |
|
Dorsal subluxation of ulna |
|
Duane anomaly |
|
Oculomotor nerve palsy |
|
Impaired ocular adduction |
|
Optic disc hypoplasia |
|
Hypoplastic iris stroma |
|
Patchy hypopigmentation of hair |
|
Marcus Gunn jaw winking synkinesis |
|
Compensatory head posture |
|
Excessive wrinkled skin |
|
Adrenal hypoplasia |
|
Abnormal pinna morphology |
|
Slender finger |
|
Thin skin |
|
Absent eyebrow |
|
Breast hypoplasia |
|
Ablepharon |
|
Radial club hand |
|
Oligospermia |
|
Megacystis |
|
Anonychia |
|
Hyperalaninemia |
|
Vaginal fistula |
|
Generalized limb muscle atrophy |
|
Loss of consciousness |
|
Transient hyperlipidemia |
|
Yellow-brown discoloration of the teeth |
|
Amelogenesis imperfecta |
|
Silver-gray hair |
|
Short 5th finger |
|
Gastroparesis |
|
Intestinal pseudo-obstruction |
|
Spontaneous esophageal perforation |
|
Hernia of the abdominal wall |
|
Increased variability in muscle fiber diameter |
|
Expressive language delay |
|
Echolalia |
|
Poor fine motor coordination |
|
Oral-pharyngeal dysphagia |
|
Pulmonary artery hypoplasia |
|
Agonadism |
|
Multifocal cerebral white matter abnormalities |
|
Loss of speech |
|
Large beaked nose |
|
Extrapyramidal muscular rigidity |
|
Axial hypotonia |
|
Chronic CSF lymphocytosis |
|
Increased CSF interferon alpha |
|
Chilblains |
|
Brain atrophy |
|
Increased serum interferon-gamma level |
|
Developmental glaucoma |
|
Neonatal alloimmune thrombocytopenia |
|
Calcification of the aorta |
|
Chronic lymphatic leukemia |
|
Moyamoya phenomenon |
|
Degeneration of the striatum |
|
Jejunal atresia |
|
Adactyly |
|
Upper limb phocomelia |
|
Microglossia |
|
Mandibular aplasia |
|
Synotia |
|
Abnormality of male internal genitalia |
|
Abnormality of fibula morphology |
|
Aplasia/Hypoplasia of the tibia |
|
Nail pits |
|
Split foot |
|
Absent nipple |
|
Toenail dysplasia |
|
Alopecia universalis |
|
Atopic dermatitis |
|
Psoriasiform dermatitis |
|
Postaxial polydactyly type A |
|
Short middle phalanx of finger |
|
Moderate postnatal growth retardation |
|
Excessive daytime somnolence |
|
Akinesia |
|
Hypokinesia |
|
Increased circulating osteocalcin level |
|
Enuresis |
|
Hypocalciuria |
|
Impaired renal concentrating ability |
|
Hypophosphaturia |
|
Onycholysis |
|
Amelia involving the upper limbs |
|
Amelia |
|
Acromelia of the lower limbs |
|
Cone/cone-rod dystrophy |
|
Alopecia totalis |
|
Abnormal left ventricle morphology |
|
Abnormal T-wave |
|
Abnormal ST segment |
|
Subvalvular aortic stenosis |
|
Colon cancer |
|
Vaginal neoplasm |
|
Abnormality of ulnar metaphysis |
|
Absent ulna |
|
Short humerus |
|
Long fibula |
|
Severe combined immunodeficiency |
|
Abnormality of Krebs cycle metabolism |
|
Abnormal urine alpha-ketoglutarate concentration |
|
Coronal hypospadias |
|
Abnormality of the calf musculature |
|
Motor axonal neuropathy |
|
Plantar hyperkeratosis |
|
Abnormality of the hypothenar eminence |
|
Flared iliac wings |
|
Partial duplication of the distal phalanx of the hallux |
|
Abnormality of the incus |
|
Abnormality of the malleus |
|
Ridged nail |
|
Short metatarsal |
|
Cone-shaped metacarpal epiphyses |
|
Irregular menstruation |
|
Macrocytic anemia |
|
Paraparesis |
|
Renal malrotation |
|
Crossed fused renal ectopia |
|
Short distal phalanx of the thumb |
|
Uterus didelphys |
|
Rudimentary fibula |
|
Rudimentary to absent tibiae |
|
Partial absence of toe |
|
Absent frontal sinuses |
|
Hypoplastic 5th lumbar vertebrae |
|
Conical tooth |
|
Mild short stature |
|
Spastic gait |
|
Aplasia cutis congenita |
|
Pulmonary artery atresia |
|
Absent fingernail |
|
Short nail |
|
Duplication of the distal phalanx of the 5th finger |
|
Acromesomelia |
|
Cuboidal metacarpal |
|
Abnormally shaped carpal bones |
|
Severe short-limb dwarfism |
|
Acroosteolysis (feet) |
|
Abnormality of the knee |
|
Fifth metacarpal with ulnar notch |
|
Abnormality of lower lip |
|
Asymmetric crying face |
|
Medial flaring of the eyebrow |
|
Personality changes |
|
Episodic ataxia |
|
Spastic ataxia |
|
Congenital miosis |
|
Maxillary lateral incisor microdontia |
|
Colonic atresia |
|
Prenatal double bubble sign |
|
Projectile vomiting |
|
Hypokalemic hypochloremic metabolic alkalosis |
|
Lack of bowel sounds |
|
Bilious emesis |
|
Bilateral choanal atresia |
|
Hand oligodactyly |
|
Nonprogressive muscular atrophy |
|
Abnormal large intestine morphology |
|
Abnormal optic nerve morphology |
|
Uterine neoplasm |
|
Neoplasm of the adrenal cortex |
|
Abnormality of the parathyroid gland |
|
Increased circulating cortisol level |
|
Primary gonadal insufficiency |
|
Thyroid agenesis |
|
Hypoplastic male external genitalia |
|
Popliteal pterygium |
|
Aplasia/Hypoplasia of the distal phalanges of the toes |
|
Persistent pupillary membrane |
|
Optic nerve hypoplasia |
|
Hyperconvex nail |
|
Submucous cleft soft palate |
|
Absent lacrimal punctum |
|
Amniotic constriction ring |
|
Type A brachydactyly |
|
True anophthalmia |
|
Camptodactyly of 2nd-5th fingers |
|
Foot oligodactyly |
|
Hypoplasia of the premaxilla |
|
Elbow ankylosis |
|
Absent toenail |
|
Aplasia/Hypoplasia of the phalanges of the hand |
|
Aplasia/Hypoplasia of the phalanges of the toes |
|
Persistent cloaca |
|
Hypoproteinemia |
|
Aplasia/Hypoplasia of the fibula |
|
Congenital nystagmus |
|
High myopia |
|
Talipes equinovalgus |
|
Refractory anemia with ringed sideroblasts |
|
Whistling appearance |
|
Aplasia of the 1st metacarpal |
|
Hemiatrophy |
|
Long palpebral fissure |
|
Brittle hair |
|
Slow-growing hair |
|
2-3 finger syndactyly |
|
Hamartoma of tongue |
|
Renal dysplasia |
|
Absent gallbladder |
|
Craniofacial osteosclerosis |
|
Metaphyseal dysplasia |
|
Optic nerve compression |
|
Abnormality of dental eruption |
|
Attached earlobe |
|
Short 2nd toe |
|
Patellar hypoplasia |
|
Cuboid-shaped vertebral bodies |
|
Short 3rd toe |
|
Short 5th toe |
|
Camptodactyly of toe |
|
Increased urinary taurine |
|
Bell-shaped thorax |
|
Posterior rib gap |
|
Radial deviation of the 2nd finger |
|
Oral synechia |
|
Developmental cataract |
|
Adult onset sensorineural hearing impairment |
|
Carnosinuria |
|
Abnormal bone ossification |
|
Poorly ossified vertebrae |
|
Juvenile cataract |
|
Uncombable hair |
|
Abnormality of upper lip |
|
Upper eyelid edema |
|
Extension of hair growth on temples to lateral eyebrow |
|
Torsion dystonia |
|
Patchy distortion of vertebrae |
|
Abnormality of the nares |
|
Vertebral clefting |
|
Low levels of vitamin K |
|
Congenital contracture |
|
Congenital kyphoscoliosis |
|
Abnormally folded helix |
|
Crumpled ear |
|
Intrahepatic biliary atresia |
|
Supraauricular pit |
|
Upper lip pit |
|
Nonketotic hyperglycinemia |
|
Fibrous syngnathia |
|
Deviation of the 2nd finger |
|
Short distal phalanx of toe |
|
Hypoplastic fifth fingernail |
|
Widow's peak |
|
Midline defect of the nose |
|
Congenital pseudoarthrosis of the clavicle |
|
Abnormality of hair texture |
|
Frontal encephalocele |
|
Septo-optic dysplasia |
|
Mottled pigmentation |
|
Osteopetrosis |
|
Hypoplastic female external genitalia |
|
Aplastic clavicles |
|
Prominent scrotal raphe |
|
Preauricular skin furrow |
|
Palmoplantar cutis gyrata |
|
Bifid ureter |
|
Early balding |
|
Aplasia/Hypoplasia of the fovea |
|
Decreased circulating copper concentration |
|
Lacrimal duct atresia |
|
Abnormal brainstem morphology |
|
Brachytelomesophalangy |
|
Broad metatarsal |
|
Preaxial foot polydactyly |
|
2-3 toe syndactyly |
|
Ankylosis |
|
Synovitis |
|
Anterior rib punctate calcifications |
|
Abnormal pelvis bone ossification |
|
Preeclampsia |
|
Abnormality of the femoral neck or head region |
|
Cerebellar agenesis |
|
Trichodysplasia |
|
Type B brachydactyly |
|
Ureteral atresia |
|
Hypoplasia of the pons |
|
Decreased circulating IgG level |
|
Immunoglobulin IgG2 deficiency |
|
Ectodermal dysplasia |
|
Ungual fibroma |
|
Patchy atrophy of the retinal pigment epithelium |
|
Bifid nail |
|
Glue ear |
|
Thin eyebrow |
|
Chorioretinal degeneration |
|
Stapes ankylosis |
|
Dilatated internal auditory canal |
|
Abnormality of the Achilles tendon |
|
Reticular pigmentary degeneration |
|
Bilateral sensorineural hearing impairment |
|
Ankle clonus |
|
Visual acuity test abnormality |
|
Central diabetes insipidus |
|
Anterior pituitary dysgenesis |
|
Adrenocorticotropic hormone deficiency |
|
Thoracic hemivertebrae |
|
Short middle phalanx of the 5th finger |
|
Chronic hepatic failure |
|
Abnormal anterior chamber morphology |
|
Coronal cleft vertebrae |
|
Extrahepatic biliary duct atresia |
|
Short ribs |
|
Retinal dysplasia |
|
Dumbbell-shaped humerus |
|
Morphological abnormality of the gastrointestinal tract |
|
Central scotoma |
|
Retinal atrophy |
|
Dyschromatopsia |
|
Abnormal full-field electroretinogram |
|
Metamorphopsia |
|
Hypoplastic ilia |
|
Short femur |
|
Short greater sciatic notch |
|
Lethal short-limbed short stature |
|
Hypoplastic iliac wing |
|
Incomprehensible speech |
|
Lateral clavicle hook |
|
Flat acetabular roof |
|
Undulate ribs |
|
Choanal stenosis |
|
Maxillozygomatic hypoplasia |
|
Persistent open anterior fontanelle |
|
Massively thickened long bone cortices |
|
Sparse axillary hair |
|
Onychogryposis of toenails |
|
Follicular hyperkeratosis |
|
Premature loss of primary teeth |
|
Premature eruption of permanent teeth |
|
Slow-growing nails |
|
Absent tibia |
|
Bifid sacrum |
|
Spinal cord lesion |
|
Intestinal duplication |
|
Diastomatomyelia |
|
Neonatal insulin-dependent diabetes mellitus |
|
Multiple epiphyseal dysplasia |
|
Iron deficiency anemia |
|
Ketoacidosis |
|
Central hypothyroidism |
|
Double outlet right ventricle |
|
Dimple on nasal tip |
|
Irregular vertebral endplates |
|
Cervical C2/C3 vertebral fusion |
|
Abnormality of limb bone morphology |
|
Abnormality of macular pigmentation |
|
Decreased circulating total IgM |
|
Reduced subcutaneous adipose tissue |
|
Hyperlipoproteinemia |
|
Crusting erythematous dermatitis |
|
Recurrent cystitis |
|
Poor speech |
|
Horizontal eyebrow |
|
Polyphagia |
|
Abnormality of the cerebellar vermis |
|
Euryblepharon |
|
Absent nasal septal cartilage |
|
Laryngeal cleft |
|
Hoarse cry |
|
Aspiration |
|
Choking episodes |
|
Impaired oropharyngeal swallow response |
|
Bilateral conductive hearing impairment |
|
Carpal synostosis |
|
Oligodontia of primary teeth |
|
Humeroradial synostosis |
|
Gingival fibromatosis |
|
Restrictive cardiomyopathy |
|
Lethal skeletal dysplasia |
|
Congenital exfoliative erythroderma |
|
Progressive cerebellar ataxia |
|
Multiple exostoses |
|
Dermal atrophy |
|
Type E brachydactyly |
|
Ventricular extrasystoles |
|
Bacterial endocarditis |
|
Fundus atrophy |
|
Long neck |
|
Dry hair |
|
Monodactyly (hands) |
|
Midline central nervous system lipomas |
|
Celosomia |
|
Aplasia/Hypoplasia of the nails |
|
Abnormal nasal base |
|
Unilateral cleft lip |
|
Chorioretinitis |
|
Punctate vertebral calcifications |
|
Metacarpophalangeal joint contracture |
|
Contractures of the interphalangeal joint of the thumb |
|
Irregular epiphyses |
|
Flattened femoral head |
|
Ciliary dyskinesia |
|
Hidrotic ectodermal dysplasia |
|
Joint contracture of the 5th finger |
|
Complete duplication of the distal phalanges of the hand |
|
Osteopoikilosis |
|
Shagreen patch |
|
Hypotrichosis |
|
Irregular hyperpigmentation of back |
|
Entropion |
|
Selective tooth agenesis |
|
Macular dystrophy |
|
Long fingers |
|
Abnormality of the scapula |
|
Abnormal scrotal rugation |
|
Vaginal hydrocele |
|
Hemangiomatosis |
|
Broad femoral neck |
|
Abnormal ossification involving the femoral head and neck |
|
Abnormality of the epiphysis of the femoral head |
|
Proportionate short stature |
|
Natal tooth |
|
Aplasia of the middle phalanges of the toes |
|
Abnormal palmar dermatoglyphics |
|
Abnormality of the pulmonary vasculature |
|
Hypoplastic pelvis |
|
Giant cell tumor of bone |
|
Abnormality of the mediastinum |
|
Skin nodule |
|
Abnormality of the glenoid fossa |
|
Congenital craniofacial dysostosis |
|
Aplasia/Hypoplasia of the nasal bone |
|
Upper eyelid coloboma |
|
Rieger anomaly |
|
Prominent glabella |
|
Gonadal dysgenesis, male |
|
Coronary artery atherosclerosis |
|
Amenorrhea |
|
Multiple unerupted teeth |
|
Crowded maxillary incisors |
|
Posterior fusion of lumbosacral vertebrae |
|
Esotropia |
|
Bifid nasal tip |
|
Absent inner eyelashes |
|
Crumpled long bones |
|
Progressive sensorineural hearing impairment |
|
Brisk reflexes |
|
Abnormality of the scalp |
|
Underdeveloped antitragus |
|
Underdeveloped tragus |
|
Pyelonephritis |
|
Median cleft palate |
|
Abnormal cartilage morphology |
|
Chondrosarcoma |
|
Shortening of all middle phalanges of the fingers |
|
Hallux varus |
|
Short first metatarsal |
|
Hypoplastic fifth toenail |
|
Mirror image polydactyly |
|
Fibular duplication |
|
Limb duplication |
|
Rigidity |
|
Cogwheel rigidity |
|
Abnormal erythrocyte morphology |
|
Megaloblastic anemia |
|
Folate-unresponsive megaloblastic anemia |
|
Gastritis |
|
Hyperphosphatemia |
|
Patchy osteosclerosis |
|
Congenital hypoparathyroidism |
|
Prominent fingertip pads |
|
Cleft lip |
|
Duplicated collecting system |
|
Eversion of lateral third of lower eyelids |
|
Lagophthalmos |
|
Reduced circulating growth hormone concentration |
|
Hyperinsulinemic hypoglycemia |
|
Diffuse palmoplantar hyperkeratosis |
|
Fatigable weakness |
|
Abnormality of the spinal cord |
|
Autoamputation of digits |
|
Honeycomb palmoplantar keratoderma |
|
Loss of subcutaneous adipose tissue in limbs |
|
Abnormality of complement system |
|
Abnormality of skeletal muscle fiber size |
|
Eclampsia |
|
Shoulder dislocation |
|
Lower limb undergrowth |
|
Abnormality of the female genitalia |
|
Congenital ichthyosiform erythroderma |
|
Eclabion |
|
Basilar impression |
|
Microcolon |
|
Hypoperistalsis |
|
Neoplasm of the heart |
|
Fragile nails |
|
Agenesis of permanent teeth |
|
Thin toenail |
|
Aplasia of the phalanges of the 3rd toe |
|
Aplasia of the proximal phalanges of the hand |
|
Abnormal breath sound |
|
Abnormal trachea morphology |
|
Abnormal hemidiaphragm morphology |
|
Abnormal pulmonary artery morphology |
|
Increased circulating surfactant protein level |
|
Nonopposable triphalangeal thumb |
|
Macular coloboma |
|
Gingival hyperkeratosis |
|
Focal friction-related palmoplantar hyperkeratosis |
|
Circumungual hyperkeratosis |
|
Histidinuria |
|
Rounded middle phalanx of finger |
|
Impaired histidine renal tubular absorption |
|
Lobulated tongue |
|
Broad alveolar ridges |
|
Tongue nodules |
|
Increased mean corpuscular volume |
|
Ectopic calcification |
|
Abnormality of the tibial metaphysis |
|
Abnormality of the proximal tibial epiphysis |
|
Osteochondrosis |
|
Olivopontocerebellar atrophy |
|
Ganglioneuroma |
|
Ganglioneuroblastoma |
|
Obtuse angle of mandible |
|
Ulnar deviated club hands |
|
Radioulnar dislocation |
|
Lateral humeral condyle aplasia |
|
Temporomandibular joint ankylosis |
|
Hypochromic anemia |
|
Odontoma |
|
High intestinal obstruction |
|
Severe periodontitis |
|
Palmoplantar hyperkeratosis |
|
Recurrent skin infections |
|
Atrophy of alveolar ridges |
|
Chronic furunculosis |
|
Choroid plexus papilloma |
|
Torus palatinus |
|
Sclerotic vertebral body |
|
Clavicular sclerosis |
|
Eczematoid dermatitis |
|
Underfolded helix |
|
Chronic rhinitis |
|
Macular hyperpigmented dermopathy |
|
Osteopathia striata |
|
Wrist swelling |
|
Carpal osteolysis |
|
Metacarpal osteolysis |
|
Frontal lobe dementia |
|
Agnosia |
|
Midshaft hypospadias |
|
Mutism |
|
Short corpus callosum |
|
Sacrococcygeal pilonidal abnormality |
|
Abnormal external genitalia |
|
Penoscrotal transposition |
|
Hypsarrhythmia |
|
Atrophy/Degeneration affecting the brainstem |
|
Peripheral edema |
|
Restricted chest movement |
|
Nonketotic hypoglycemia |
|
Fetal polyuria |
|
Decreased taste sensation |
|
Increased total bilirubin |
|
Polycystic liver disease |
|
Aplasia/Hypoplasia of the sternum |
|
Absence of subcutaneous fat |
|
Unilateral brachydactyly |
|
Finger symphalangism |
|
Ureterocele |
|
Keratoconjunctivitis |
|
Transitional cell carcinoma of the bladder |
|
Aplasia/Hypoplasia involving the pelvis |
|
Hypoplasia of the antihelix |
|
Metaphyseal chondrodysplasia |
|
Progressive leg bowing |
|
Hydrometrocolpos |
|
Urethral stricture |
|
Iridodonesis |
|
Inflammatory abnormality of the skin |
|
Short mandibular rami |
|
Laryngeal stridor |
|
Distal urethral duplication |
|
Spinocerebellar tract degeneration |
|
Localized neuroblastoma |
|
Increased number of skin folds |
|
Horizontal nystagmus |
|
Alternating esotropia |
|
Hypoplastic labia minora |
|
Retinal coloboma |
|
Abnormality of reticulocytes |
|
Midface prominence |
|
Short femoral neck |
|
Mesomelic short stature |
|
Congenital pyloric atresia |
|
Radial head subluxation |
|
Renal amyloidosis |
|
J-shaped sella turcica |
|
Horizontal ribs |
|
Increased vertebral height |
|
Hypoplastic anemia |
|
Abnormal macrophage morphology |
|
Acute myelomonocytic leukemia |
|
Leukonychia |
|
Knuckle pad |
|
Hyperkeratotic papule |
|
Bifid nose |
|
Flexion contracture of the 2nd toe |
|
Flexion contracture of the 4th toe |
|
Fused teeth |
|
Abnormality of the ear |
|
Curly hair |
|
Aplasia/Hypoplasia of the middle phalanges of the hand |
|
Abnormality iris morphology |
|
Urethral obstruction |
|
Broad distal phalanx of finger |
|
Optic nerve dysplasia |
|
Tetraamelia |
|
Aplasia/hypoplasia of the femur |
|
Anotia |
|
Fibular bowing |
|
Recurrent bronchopulmonary infections |
|
Tracheobronchmegaly |
|
Generalized hypopigmentation of hair |
|
Midline facial cleft |
|
Chronic mucocutaneous candidiasis |
|
Decreased circulating aldosterone level |
|
Adrenal hyperplasia |
|
Anti-side-chain cleavage enzyme antibody positivity |
|
Anti-21-hydroxylase antibody positivity |
|
Congenital foot contractures |
|
Abducens palsy |
|
Pseudopapilledema |
|
Abnormality of the humeroulnar joint |
|
Abnormality of the glabella |
|
Choroid plexus cyst |
|
Hypoplasia of the olfactory bulb |
|
Large sella turcica |
|
Retrocerebellar cyst |
|
Anterior pituitary hypoplasia |
|
Hypopituitarism |
|
Recurrent bronchitis |
|
Obstructive azoospermia |
|
Photomyoclonic seizures |
|
Abnormality of mitochondrial metabolism |
|
Cerebral artery atherosclerosis |
|
Cerebral white matter hypoplasia |
|
Subcutaneous lipoma |
|
Abnormal internal genitalia |
|
Alveolar process hypoplasia |
|
Aplasia of the thymus |
|
Multiple pterygia |
|
Axillary pterygia |
|
Antecubital pterygium |
|
Absence of labia majora |
|
Renotubular dysgenesis |
|
Exotropia |
|
Unilateral narrow palpebral fissure |
|
Calcification of the auricular cartilage |
|
Posterior scalloping of vertebral bodies |
|
Bilateral cryptorchidism |
|
Hyperconvex thumb nails |
|
Cuboid-shaped thoracolumbar vertebral bodies |
|
Hypoplastic superior helix |
|
Hypoplasia of the vagina |
|
Aplasia of the ovary |
|
Endometriosis |
|
Ectopic ovary |
|
Abnormal ear morphology |
|
Dumbbell-shaped long bone |
|
Advanced tarsal ossification |
|
Increased fibular diameter |
|
Graves disease |
|
Anti-steroid 17alpha-hydroxylase antibody positivity |
|
Abnormal joint morphology |
|
Hypoplasia of the ovary |
|
Intermittent painful muscle spasms |
|
Abnormality of vertebral epiphysis morphology |
|
Autoimmune hemolytic anemia |
|
T-cell lymphoma |
|
B-cell lymphoma |
|
Pollakisuria |
|
Curved distal phalanges of the hand |
|
Posterior rib fusion |
|
Anteroposteriorly shortened larynx |
|
Hypoplasia of the pharynx |
|
Membranous subvalvular aortic stenosis |
|
Abnormal vocal cord morphology |
|
Aplasia of the nose |
|
Torticollis |
|
Abnormality of the shoulder girdle musculature |
|
Shoulder muscle hypoplasia |
|
Abnormality of femoral epiphysis |
|
Systolic heart murmur |
|
Facial edema |
|
Abnormality of the metacarpal bones |
|
Aplasia/Hypoplasia of the middle ear |
|
Short lingual frenulum |
|
Temporal hypotrichosis |
|
Abnormality of the stapes |
|
Cochlear degeneration |
|
Proximal symphalangism |
|
Metacarpophalangeal synostosis |
|
Finger clinodactyly |
|
Anodontia |
|
Hypoplasia of teeth |
|
Patchy palmoplantar keratoderma |
|
Neoplasm of the skeletal system |
|
Enthesitis |
|
Palmoplantar pustulosis |
|
Hypoplasia of lymphatic vessels |
|
Yellow nails |
|
Rhinitis |
|
Narrow palpebral fissure |
|
Writer's cramp |
|
Hypomagnesemia |
|
Hypermagnesiuria |
|
Cortical myoclonus |
|
Transient pulmonary infiltrates |
|
Generalized lymphadenopathy |
|
Pharyngitis |
|
Pharyngalgia |
|
Maculopapular exanthema |
|
Nausea |
|
Lymphadenitis |
|
Rheumatoid factor positive |
|
Interstitial pneumonitis |
|
Hemophagocytosis |
|
Disseminated intravascular coagulation |
|
Severe Epstein Barr virus infection |
|
Elevated levels of phytanic acid |
|
3-Methylglutaconic aciduria |
|
Cystoid macular degeneration |
|
Fragile skin |
|
Thoracic kyphoscoliosis |
|
Abnormal enzyme/coenzyme activity |
|
Atrophic scars |
|
Generalized joint laxity |
|
Thoracic scoliosis |
|
Joint subluxation |
|
Limb muscle weakness |
|
Shoulder subluxation |
|
Congenital bilateral hip dislocation |
|
Distal joint laxity |
|
Arterial rupture |
|
Scleral rupture |
|
Hip subluxation |
|
Widened atrophic scar |
|
Muscle fiber atrophy |
|
Abnormal venous morphology |
|
Peripheral axonal neuropathy |
|
Wrist drop |
|
Impaired tandem gait |
|
Abnormality of the brachial nerve plexus |
|
Delayed eruption of permanent teeth |
|
Elevated amniotic fluid alpha-fetoprotein |
|
Cystocele |
|
Genital hernia |
|
Menometrorrhagia |
|
Soft skin |
|
Pelvic organ prolapse |
|
Gastrointestinal dysmotility |
|
Dermal translucency |
|
Arteriovenous fistulas of celiac and mesenteric vessels |
|
Arteriovenous fistula |
|
Uterine prolapse |
|
Abnormality of the gingiva |
|
Pulmonary artery aneurysm |
|
Hypoplastic lacrimal duct |
|
Prolinuria |
|
Hyperprolinemia |
|
Periodic paralysis |
|
Angioid streaks of the fundus |
|
Postural instability |
|
Accessory carpal bones |
|
Large joint dislocations |
|
Laryngotracheomalacia |
|
Phimosis |
|
Esophageal stricture |
|
Colitis |
|
Neoplasm of the urethra |
|
Esophagitis |
|
Sclerodactyly |
|
Tricuspid stenosis |
|
Testicular teratoma |
|
Trachyonychia |
|
Nevus sebaceous |
|
Scarring alopecia of scalp |
|
Scarring |
|
Perifollicular hyperkeratosis |
|
Abnormal retinal morphology |
|
Clinodactyly of the 5th toe |
|
Hypercoagulability |
|
Poliosis |
|
CSF pleocytosis |
|
Blurred vision |
|
Iridocyclitis |
|
Retinal nerve fiber edema |
|
Nuchal rigidity |
|
Chorioretinal hypopigmentation |
|
Epiphora |
|
Posterior synechiae of the anterior chamber |
|
Corneal keratic precipitates |
|
Skin plaque |
|
Delayed closure of the anterior fontanelle |
|
Abnormality of granulocytes |
|
Urinary hesitancy |
|
Follicular hyperplasia |
|
Urinary bladder inflammation |
|
Prostate neoplasm |
|
Renal angiomyolipoma |
|
Chylothorax |
|
Pulmonary lymphangiomyomatosis |
|
Warfarin-induced skin necrosis |
|
Abnormal lymphocyte morphology |
|
Abnormal immunoglobulin level |
|
Cutaneous T-cell lymphoma |
|
Organic aciduria |
|
Abnormality of leucine metabolism |
|
Increased circulating IgA level |
|
Impaired visuospatial constructive cognition |
|
Libman-Sacks lesions |
|
Cerebral infarct |
|
Diminished ability to concentrate |
|
Antiphospholipid antibody positivity |
|
Central retinal vein occlusion |
|
Central retinal artery occlusion |
|
Internuclear ophthalmoplegia |
|
Cutaneous necrosis |
|
Suicide behaviors |
|
Splinter hemorrhages |
|
Intraventricular hemorrhage |
|
Livedo racemosa |
|
Childhood-onset truncal obesity |
|
Impaired fasting glucose |
|
Postaxial polydactyly |
|
Nasal, dysarthic speech |
|
Aplasia/Hypoplasia of the vagina |
|
Fifth finger distal phalanx clinodactyly |
|
Thickened cortex of long bones |
|
Metaphyseal widening |
|
Smooth tongue |
|
Absent patellar reflexes |
|
Ectopic thyroid |
|
Severely reduced visual acuity |
|
Abnormality of the optic disc |
|
Flat nasal alae |
|
Hypothalamic gonadotropin-releasing hormone (GNRH) deficiency |
|
Bimanual synkinesia |
|
Paraplegia |
|
Hypoplastic nasal bridge |
|
Aplasia cutis congenita over the scalp vertex |
|
Congenital localized absence of skin |
|
Tactile hypersensitivity |
|
Deformed humeral heads |
|
Distal renal tubular acidosis |
|
Edema of the dorsum of hands |
|
Anti-dsDNA antibody positivity |
|
Anti-U1 ribonucleoprotein antibody positivity |
|
Anti-ribosome Po antibody positivity |
|
Anti-cyclic citrullinated peptide antibody positivity |
|
Anti-Ro52/TRIM21 antibody positivity |
|
Scleroderma |
|
Anasarca |
|
Membranous nephropathy |
|
Abnormality on pulmonary function testing |
|
Ineffective esophageal peristalsis |
|
Abnormal cornea morphology |
|
Verrucous papule |
|
Abnormal pupillary function |
|
Non-rapid eye movement parasomnia |
|
Female sexual dysfunction |
|
Male sexual dysfunction |
|
Restlessness |
|
Transient global amnesia |
|
Nocturia |
|
Drooling |
|
Abnormal rapid eye movement sleep |
|
Hypnagogic hallucinations |
|
Hypnopompic hallucinations |
|
Sleep paralysis |
|
Neoplasm of the stomach |
|
Propionyl-CoA carboxylase deficiency |
|
Flaring of lower rib cage |
|
Limited elbow extension |
|
Biconvex vertebral bodies |
|
Increased megakaryocyte count |
|
Megakaryocyte nucleus hyperlobulation |
|
Myelofibrosis |
|
Erythromelalgia |
|
Elevated 7-dehydrocholesterol |
|
Facial capillary hemangioma |
|
Talipes calcaneovalgus |
|
Menorrhagia |
|
Reduced factor VIII activity |
|
Impaired ristocetin cofactor assay activity |
|
Joint hemorrhage |
|
Muscle hemorrhage |
|
Junctional ectopic tachycardia |
|
Cardiac arrest |
|
Palpitations |
|
Supraventricular tachycardia |
|
Polymorphic ventricular tachycardia |
|
Ventricular fibrillation |
|
Autoimmune thrombocytopenia |
|
Posterior pharyngeal cleft |
|
Aplasia/Hypoplasia of toe |
|
Generalized aminoaciduria |
|
Rickets of the lower limbs |
|
Dysesthesia |
|
Persistence of hemoglobin F |
|
Triangular mouth |
|
Mesoaxial hand polydactyly |
|
Symphalangism of the 5th finger |
|
No permanent dentition |
|
Mesoaxial foot polydactyly |
|
anti-LAD-1 antibody positivity |
|
Anti-LABD97 antibody positivity |
|
Bladder neoplasm |
|
Hyperpigmentation of the skin |
|
Hypochromic microcytic anemia |
|
Refractory anemia |
|
Aceruloplasminemia |
|
Limb ataxia |
|
Decreased circulating ceruloplasmin concentration |
|
Elevated hepatic iron concentration |
|
Decreased serum iron |
|
Facial grimacing |
|
Abnormal corpus striatum morphology |
|
Craniofacial dystonia |
|
Iron accumulation in brain |
|
Abnormal thalamic MRI signal intensity |
|
Abnormality of the dentate nucleus |
|
Peripheral hypomyelination |
|
Finger joint contracture |
|
Hyperintensity of cerebral white matter on MRI |
|
Acute rhabdomyolysis |
|
Bruxism |
|
Cerebellar cortical atrophy |
|
Hair-pulling |
|
Recurrent pyelonephritis |
|
Abnormality of the hepatic vasculature |
|
Rheumatoid arthritis |
|
Systemic lupus erythematosus |
|
Myeloid leukemia |
|
Hypokalemic metabolic alkalosis |
|
Recurrent bacterial infections |
|
Complement deficiency |
|
Small vessel vasculitis |
|
Painful subcutaneous lipomas |
|
Overweight |
|
Increased total hemolytic complement activity |
|
Mastalgia |
|
Digital ischemia |
|
Arterial occlusion |
|
Recurrent bacterial skin infections |
|
Narrow forehead |
|
Intrahepatic cholestasis |
|
Abnormality of the thoracic spine |
|
Abnormal cerebral artery morphology |
|
Abnormality of the orbital region |
|
Retinal vascular malformation |
|
Lens coloboma |
|
Periodic fever |
|
Lower limb pain |
|
Increased circulating IgM level |
|
Abnormal nasolacrimal system morphology |
|
Posterior uveitis |
|
Morphological abnormality of the middle ear |
|
Ileus |
|
Abnormality of creatine metabolism |
|
Postaxial oligodactyly |
|
Spinal arteriovenous malformation |
|
Urinary bladder sphincter dysfunction |
|
Cutaneous angiolipomas |
|
Decreased transferrin saturation |
|
Periarticular subcutaneous nodules |
|
Calcification of muscles |
|
Slender long bones with narrow diaphyses |
|
Progeroid facial appearance |
|
Generalized lipodystrophy |
|
Dense metaphyseal bands |
|
Generalized hypertrichosis |
|
Fetal pyelectasis |
|
Posterior Y-sutural cataract |
|
Posterior wedging of vertebral bodies |
|
High iliac wings |
|
Enlarged joints |
|
Osteolysis of scaphoids |
|
Osteolysis of patellae |
|
Osteolysis of talus |
|
Paroxysmal atrial tachycardia |
|
Broad clavicles |
|
Flared metaphysis |
|
Metaphyseal cupping |
|
Distal shortening of limbs |
|
Facial telangiectasia |
|
Bird-like facies |
|
Laryngeal web |
|
Reticulated skin pigmentation |
|
Aplasia/Hypoplasia of the inner ear |
|
Osteolytic defects of the distal phalanges of the hand |
|
Steatocystoma multiplex |
|
Porokeratosis |
|
Elevated circulating D-dimer concentration |
|
Anti-BP230 antibody positivity |
|
Anti-BP180 antibody positivity |
|
Large vessel vasculitis |
|
Chondritis |
|
Chondritis of pinna |
|
Wheezing |
|
Loss of voice |
|
Abnormal mitral valve physiology |
|
Nasal chondritis |
|
Scleritis |
|
Decreased level of plasminogen |
|
Duodenal ulcer |
|
Abnormality of the fallopian tube |
|
Cervicitis |
|
Abnormality of the abdominal wall |
|
Desmoid tumors |
|
Intrinsic hand muscle atrophy |
|
Weakness of long finger extensor muscles |
|
Distal upper limb amyotrophy |
|
Mildly elevated creatine kinase |
|
Type II lissencephaly |
|
Hypoglycosylation of alpha-dystroglycan |
|
Epidermal acanthosis |
|
Fragmented elastic fibers in the dermis |
|
Hypergranulosis |
|
Yellow papule |
|
Orthokeratosis |
|
Palmar hyperhidrosis |
|
Piezogenic pedal papules |
|
Spotty hypopigmentation |
|
Medullary thyroid carcinoma |
|
Parathyroid adenoma |
|
Pulmonary sequestration |
|
Macular hypopigmentation |
|
Macular hyperpigmentation |
|
Hyperkeratosis lenticularis perstans |
|
Uterine leiomyoma |
|
Uterine leiomyosarcoma |
|
Papillary renal cell carcinoma type 2 |
|
Multiple cutaneous leiomyomas |
|
Cutaneous leiomyoma |
|
Barrett esophagus |
|
Paroxysmal ventricular tachycardia |
|
Metacarpal synostosis |
|
Xanthelasma |
|
Retroperitoneal fibrosis |
|
Budd-Chiari syndrome |
|
Portal vein thrombosis |
|
Early satiety |
|
Peritoneal effusion |
|
Mediastinal mass |
|
Fibrosarcoma |
|
Predominantly lower limb lymphedema |
|
Spinalarachnoid cyst |
|
Normocytic anemia |
|
Monoclonal immunoglobulin M proteinemia |
|
Multifocal epileptiform discharges |
|
Cryoglobulinemia |
|
Brain fog |
|
Snoring |
|
Decreased liver function |
|
Abnormal circulating porphyrin concentration |
|
Elevated urinary delta-aminolevulinic acid |
|
Porphyrinuria |
|
Increased urinary porphobilinogen |
|
Limb pain |
|
Neck pain |
|
Respiratory paralysis |
|
Pseudobulbar paralysis |
|
Motor polyneuropathy |
|
Paranoia |
|
Abnormality of skin morphology |
|
Impairment of galactose metabolism |
|
Perioral eczema |
|
Metabolic ketoacidosis |
|
Decreased biotinidase activity |
|
Myelopathy |
|
Recurrent fungal infections |
|
Hyperventilation |
|
Recurrent viral infections |
|
Recurrent candida infections |
|
Focal motor seizure |
|
Nonprogressive visual loss |
|
Abnormal cerebral morphology |
|
Abnormality of limbs |
|
Neural tube defect |
|
Abnormality of the uvula |
|
Subcortical cerebral atrophy |
|
Coarctation of the descending aortic arch |
|
Cerebral white matter atrophy |
|
Angiokeratoma corporis diffusum |
|
Telangiectasia of the oral mucosa |
|
Long upper lip |
|
Shortening of all phalanges of fingers |
|
Pinguecula |
|
Biliary tract obstruction |
|
Supranuclear gaze palsy |
|
Laryngospasm |
|
Nonimmune hydrops fetalis |
|
Slowed horizontal saccades |
|
Metaphyseal irregularity |
|
Congenital hypoplastic anemia |
|
Abnormal inflammatory response |
|
Metopic synostosis |
|
Thickened ears |
|
Abnormality of the anterior pituitary |
|
Posterior pituitary hypoplasia |
|
Long toe |
|
Abnormality of primary teeth |
|
Spotty hyperpigmentation |
|
Vertical forehead creases |
|
Arthropathy |
|
Abnormality of endocrine pancreas physiology |
|
Elevated transferrin saturation |
|
Decreased circulating complement C3 concentration |
|
Externally rotated hips |
|
Absent tragus |
|
Palmar telangiectasia |
|
Plantar telangiectasia |
|
Hydrocele testis |
|
Crohn's disease |
|
Glomerular deposits |
|
Pregnancy exposure |
|
Dysgenesis of the cerebellar vermis |
|
Abnormality of the basal ganglia |
|
Abnormality of the acetabulum |
|
Absent or minimally ossified vertebral bodies |
|
Macular atrophy |
|
Arteriosclerosis |
|
Adrenal calcification |
|
Malnutrition |
|
Fetal megacystis |
|
Peripheral arterial stenosis |
|
Acute myeloid leukemia |
|
Amegakaryocytic thrombocytopenia |
|
Recurrent streptococcus pneumoniae infections |
|
Recurrent staphylococcal infections |
|
Hip osteoarthritis |
|
Thymoma |
|
Absent vertebrae |
|
Abnormality of the occipital bone |
|
Bifid sternum |
|
Agenesis of cerebellar vermis |
|
Fusion of the cerebellar hemispheres |
|
Fusion of the left and right thalami |
|
Arterial tortuosity |
|
Fibrous dysplasia of the bones |
|
Sparse eyebrow |
|
Short chin |
|
Aplasia/Hypoplasia of the pancreas |
|
Degeneration of anterior horn cells |
|
Six lumbar vertebrae |
|
Enlarged cerebellum |
|
Fibroadenoma of the breast |
|
Trichilemmoma |
|
Pleuropulmonary blastoma |
|
Shoulder girdle muscle atrophy |
|
Comedo |
|
Preaxial polydactyly |
|
Long foot |
|
Epileptic encephalopathy |
|
Apraxia |
|
Juvenile rheumatoid arthritis |
|
Anterior uveitis |
|
Progressive joint destruction |
|
Interphalangeal joint erosions |
|
Abnormal serum interleukin level |
|
Symetrical distal arthritis |
|
Premature epimetaphyseal fusion |
|
Monocytopenia |
|
Hand tremor |
|
Elliptocytosis |
|
Craniofacial dysostosis |
|
Flared radial metaphysis |
|
Broad tibial metaphyses |
|
Hypoplasia of proximal radius |
|
Glenoid fossa hypoplasia |
|
Osteoarthritis of the small joints of the hand |
|
Shortening of all distal phalanges of the toes |
|
Shortening of all middle phalanges of the toes |
|
Hypoplasia of the odontoid process |
|
Irregularity of vertebral bodies |
|
Overhanging nasal tip |
|
Abnormality of skull ossification |
|
Phalangeal dislocation |
|
Facial hypotonia |
|
Thoracic kyphosis |
|
Spondylometaphyseal dysplasia |
|
Anisospondyly |
|
Metaphyseal enchondromatosis |
|
Pretibial blistering |
|
Large posterior fontanelle |
|
Thin fingernail |
|
Soft, doughy skin |
|
Recurrent sinusitis |
|
Neonatal death |
|
Stillbirth |
|
Galactosuria |
|
Long ear |
|
Inappropriate laughter |
|
Neuronal loss in central nervous system |
|
Conspicuously happy disposition |
|
Agitation |
|
External genital hypoplasia |
|
Hypoplasia of the bladder |
|
Abnormality of brain morphology |
|
Albinism |
|
Optic nerve misrouting |
|
Squamous cell carcinoma of the skin |
|
Bleeding with minor or no trauma |
|
Abnormality of mouth shape |
|
Bifid uterus |
|
Bladder exstrophy |
|
Congenital aphakia |
|
Aplasia/Hypoplasia affecting the anterior segment of the eye |
|
Anterior synechiae of the anterior chamber |
|
Corneal perforation |
|
Hypoplasia of the capital femoral epiphysis |
|
Cerebral hypomyelination |
|
Sex reversal |
|
Mesangial abnormality |
|
Abnormality of the coagulation cascade |
|
Type I transferrin isoform profile |
|
Abnormality of subcutaneous fat tissue |
|
Reduced factor XI activity |
|
Reduced antithrombin III activity |
|
Reduced protein C activity |
|
Aplasia cutis congenita on trunk or limbs |
|
Generalized reticulate brown pigmentation |
|
Onychogryposis |
|
Abnormal epiglottis morphology |
|
Depigmentation/hyperpigmentation of skin |
|
Distal lower limb amyotrophy |
|
Aplasia of the bladder |
|
Abnormal respiratory system morphology |
|
Genital blistering |
|
Localized skin lesion |
|
Hypoplastic dermoepidermal hemidesmosomes |
|
Mitten deformity |
|
Junctional split |
|
Skin fragility with non-scarring blistering |
|
Mixed hypo- and hyperpigmentation of the skin |
|
Hypomelanotic macule |
|
Palmoplantar blistering |
|
Foot pain |
|
Heat intolerance |
|
Acute episodes of neuropathic symptoms |
|
Erythematous papule |
|
Hypopigmented macule |
|
Acral blistering |
|
Abnormality of the abdominal organs |
|
Abnormality of refraction |
|
Iris transillumination defect |
|
Posterior staphyloma |
|
Absent skin pigmentation |
|
Adermatoglyphia |
|
Aplasia/Hypoplasia of the distal phalanges of the hand |
|
Ectopic posterior pituitary |
|
Abnormality of the clitoris |
|
Cloacal exstrophy |
|
Absent foot |
|
Bifid clitoris |
|
Anteriorly displaced urethral meatus |
|
6 metacarpals |
|
1-5 finger syndactyly |
|
Metatarsal synostosis |
|
3-4 finger syndactyly |
|
Short fifth metatarsal |
|
Short middle phalanx of the 2nd finger |
|
Abnormal nerve conduction velocity |
|
Calcinosis |
|
Aplasia/Hypoplasia of the distal phalanx of the hallux |
|
Distal symphalangism (hands) |
|
Broad metacarpals |
|
Type A2 brachydactyly |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger |
|
Short 2nd metacarpal |
|
Mesoaxial polydactyly |
|
Type C brachydactyly |
|
Pseudoepiphyses of the 2nd finger |
|
Complete duplication of distal phalanx of the thumb |
|
Stippling of the epiphysis of the distal phalanx of the thumb |
|
Aplasia/Hypoplasia of the 1st metacarpal |
|
2nd-5th toe middle phalangeal hypoplasia |
|
Spondyloepimetaphyseal dysplasia |
|
Upper limb undergrowth |
|
Rhizomelic arm shortening |
|
Cardiorespiratory arrest |
|
Iliac crest serration |
|
Abnormality of the falx cerebri |
|
Femoral hernia |
|
Urethrovaginal fistula |
|
Bifid epiglottis |
|
Spondyloepiphyseal dysplasia |
|
Inertia |
|
Diffuse cerebellar atrophy |
|
Bradykinesia |
|
Deviation of the thumb |
|
Bicoronal synostosis |
|
Papillary cystadenoma of the epididymis |
|
Abnormality of exocrine pancreas physiology |
|
Circulating immune complexes |
|
Viral hepatitis |
|
Mononeuropathy |
|
Abnormality of the tarsal bones |
|
Ureteral obstruction |
|
Keratoglobus |
|
Abnormality of hair pigmentation |
|
Decreased corneal thickness |
|
Clear cell renal cell carcinoma |
|
Freckles in sun-exposed areas |
|
Abnormality of the curvature of the vertebral column |
|
Small bowel diverticula |
|
Dilatation of the ventricular cavity |
|
Bronchiolitis |
|
Small foramen magnum |
|
Abnormal fingertip morphology |
|
Acroosteolysis of distal phalanges (feet) |
|
Aplasia/Hypoplasia of the clavicles |
|
Thromboembolism |
|
Hemoglobinuria |
|
Coombs-positive hemolytic anemia |
|
Lymphoproliferative disorder |
|
Aplasia of the inner ear |
|
Vasculitis in the skin |
|
Hyperphosphaturia |
|
Bowing of the legs |
|
Bone fracture |
|
CNS hypomyelination |
|
Small basal ganglia |
|
Diffuse palmoplantar keratoderma |
|
Hyperkeratosis with erythema |
|
Aplasia/Hypoplasia of the hallux |
|
Flattened epiphysis |
|
Flat capital femoral epiphysis |
|
Thenar muscle atrophy |
|
Moderately short stature |
|
Erythematous macule |
|
Histiocytosis |
|
Increased serum mast cell beta-tryptase concentration |
|
Hypereosinophilia |
|
Abnormal vitamin B12 level |
|
Abnormal Langerhans cell morphology |
|
Iritis |
|
Myeloproliferative disorder |
|
Asymmetry of iris pigmentation |
|
Dysgammaglobulinemia |
|
Mucinous histiocytosis |
|
Enanthema |
|
Impaired social interactions |
|
Focal impaired awareness seizure |
|
Partial absence of cerebellar vermis |
|
Tall chin |
|
Enlarged cisterna magna |
|
Caudate atrophy |
|
Temporal cortical atrophy |
|
Paraganglioma |
|
Adrenal overactivity |
|
Adrenocortical adenoma |
|
Deviated nasal septum |
|
Inferior vermis hypoplasia |
|
Cerebral amyloid angiopathy |
|
Esophageal carcinoma |
|
Extrahepatic cholestasis |
|
Cholangiocarcinoma |
|
Neoplasm of the tongue |
|
Abnormal B cell count |
|
Bence Jones Proteinuria |
|
Abnormality of the small intestine |
|
Scaling skin |
|
Parakeratosis |
|
Palmoplantar scaling skin |
|
Language impairment |
|
High maternal serum chorionic gonadotropin |
|
Increased circulating ACTH level |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test |
|
Increased urinary cortisol level |
|
Fatiguable weakness of proximal limb muscles |
|
Plethora |
|
Increased body weight |
|
Proximal amyotrophy |
|
Intra-oral hyperpigmentation |
|
Capillary fragility |
|
Dorsocervical fat pad |
|
Increased circulating androgen concentration |
|
Ecchymosis |
|
Abnormal libido |
|
Decreased eosinophil count |
|
Moon facies |
|
Psychotic episodes |
|
Abnormality of the lymph nodes |
|
Malignant gastrointestinal tract tumors |
|
Recurrent cutaneous fungal infections |
|
Pancreatic endocrine tumor |
|
Atypical pulmonary carcinoid tumor |
|
Flushing |
|
Suicidal ideation |
|
Impaired glucose tolerance |
|
Neuroendocrine neoplasm |
|
Small intestine carcinoid |
|
Prostate cancer |
|
Panic attack |
|
Small cell lung carcinoma |
|
Pulmonary carcinoid tumor |
|
Pancreatoblastoma |
|
Hypergastrinemia |
|
Pituitary corticotropic cell adenoma |
|
Malignant neoplasm of the central nervous system |
|
Hand muscle weakness |
|
EMG: chronic denervation signs |
|
Atrophy of the spinal cord |
|
Cold paresis |
|
Hyperintensity of MRI T2 signal of the spinal cord |
|
Low maternal serum chorionic gonadotropin |
|
Metrorrhagia |
|
Enlarged uterus |
|
Abnormal renal physiology |
|
Liposarcoma |
|
Viremia |
|
Shock |
|
Breathing dysregulation |
|
Central hypoventilation |
|
Central sleep apnea |
|
Abnormal vena cava morphology |
|
Vitelliform maculopathy |
|
Spastic/hyperactive bladder |
|
Cleft soft palate |
|
Limb hypertonia |
|
Temperature instability |
|
Abnormal liver lobulation |
|
Generalized muscle hypertrophy |
|
Osteochondritis Dissecans |
|
Severe failure to thrive |
|
Bradycardia |
|
Inability to walk |
|
Fixed elbow flexion |
|
Severe expressive language delay |
|
Lower limb hypertonia |
|
Naevus flammeus of the eyelid |
|
Food intolerance |
|
Happy demeanor |
|
Prominent palatine ridges |
|
Delayed myelination |
|
Bilateral wrist flexion contracture |
|
Bulbar palsy |
|
HbH hemoglobin |
|
Thyroid adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration |
|
Increased circulating free T3 |
|
Anti-thyroid peroxidase antibody positivity |
|
Thyroid nodule |
|
Anti-thyroglobulin antibody positivity |
|
Papillary thyroid carcinoma |
|
Thyroid hemiagenesis |
|
Lingual thyroid |
|
Shyness |
|
Abnormal aggressive, impulsive or violent behavior |
|
Pulmonary valve atresia |
|
Wolff-Parkinson-White syndrome |
|
Incoordination |
|
Tics |
|
Prominent nasal tip |
|
Absent nasal bridge |
|
Periventricular heterotopia |
|
Pancreatic aplasia |
|
Cortical dysplasia |
|
Shallow acetabular fossae |
|
Coxa magna |
|
Broad eyebrow |
|
Spherocytosis |
|
Elevated circulating follicle stimulating hormone level |
|
Female external genitalia in individual with 46,XY karyotype |
|
Elevated circulating luteinizing hormone level |
|
Abnormal sex determination |
|
Vanishing testis |
|
Decreased serum testosterone concentration |
|
Testicular gonadoblastoma |
|
Ovarian gonadoblastoma |
|
Absence of secondary sex characteristics |
|
Abnormality of the labia |
|
Decreased fertility in females |
|
Paralysis |
|
Melena |
|
Chills |
|
Febrile seizures |
|
Pseudobulbar behavioral symptoms |
|
Stiff neck |
|
Severe viral infection |
|
Subconjunctival hemorrhage |
|
Cerebral edema |
|
Resting tremor |
|
Fulminant hepatitis |
|
Rigors |
|
Excessive bleeding after a venipuncture |
|
Crackles |
|
Odynophagia |
|
Localized epidermolytic hyperkeratosis |
|
Edema of the dorsum of feet |
|
Abnormal stomach morphology |
|
Abdominal wall defect |
|
Testicular seminoma |
|
Cutaneous mastocytosis |
|
Curved middle phalanx of the 4th toe |
|
Bifid thoracic vertebrae |
|
Optic nerve aplasia |
|
Profuse pigmented skin lesions |
|
Irregularly spaced teeth |
|
Eunuchoid habitus |
|
Abnormal plantar dermatoglyphics |
|
Abnormality of the testis size |
|
Abnormality of the epiphyses of the elbow |
|
Large carpal bones |
|
Bridged palmar crease |
|
Phenotypic abnormality |
|
Female hypogonadism |
|
Hyoplasia of the Leydig cells |
|
Abnormal vas deferens morphology |
|
Carotid artery dilatation |
|
Abnormality of connective tissue |
|
Cystic medial necrosis of the aorta |
|
Ascending aortic dissection |
|
Descending aortic dissection |
|
Paroxysmal dyspnea |
|
Ischemic stroke |
|
Prenatal maternal abnormality |
|
Dilatation of the cerebral artery |
|
Descending thoracic aorta aneurysm |
|
Hypovolemia |
|
Sudden loss of visual acuity |
|
Macroorchidism, postpubertal |
|
Fourth cranial nerve palsy |
|
Internal ophthalmoplegia |
|
Increased serum testosterone level |
|
Heteronymous hemianopia |
|
Cerebrospinal fluid rhinorrhoea |
|
Pituitary adenoma |
|
Decreased circulating ACTH level |
|
Secondary growth hormone deficiency |
|
Increased intraabdominal fat |
|
Anemia of inadequate production |
|
Central adrenal insufficiency |
|
Adrenocorticotropin deficient adrenal insufficiency |
|
Abnormal muscle physiology |
|
Abnormality of the pituitary gland |
|
Decreased female libido |
|
Bitemporal hemianopia |
|
Ambiguous genitalia, female |
|
Abnormal spermatogenesis |
|
Unilateral cryptorchidism |
|
Frontal balding |
|
Facial hirsutism |
|
Abnormal peripheral myelination |
|
Distal sensory impairment of all modalities |
|
Sensory ataxic neuropathy |
|
Gonadal dysgenesis with female appearance, male |
|
Abnormality of peripheral nerves |
|
Urethral atresia, male |
|
Cystic renal dysplasia |
|
Bilateral lung agenesis |
|
Urethral fistula |
|
Bilateral renal agenesis |
|
Absent penis |
|
Unilateral renal hypoplasia |
|
Bilateral renal hypoplasia |
|
Cloacal abnormality |
|
Rectal fistula |
|
Chordee |
|
Fused labia minora |
|
Abnormality of prenatal development or birth |
|
Hyperpigmented genitalia |
|
Ovotestis |
|
Abnormality of circulating corticosterone level |
|
Decreased circulating androgen level |
|
Abnormal reproductive system morphology |
|
Epididymal cyst |
|
Absent external genitalia |
|
Periodic hypokalemic paresis |
|
Episodic hypokalemia |
|
Increased intramyocellular lipid droplets |
|
Exercise-induced muscle fatigue |
|
Postprandial hyperglycemia |
|
Late-onset proximal muscle weakness |
|
Fatigable weakness of respiratory muscles |
|
Impaired myocardial contractility |
|
Functional abnormality of the bladder |
|
Primary hypothyroidism |
|
Immune dysregulation |
|
Enterocolitis |
|
Recurrent herpes |
|
B lymphocytopenia |
|
Villous atrophy |
|
Generalized osteoporosis |
|
Patent foramen ovale |
|
Neutropenia in presence of anti-neutropil antibodies |
|
Medial calcification of large arteries |
|
Oropharyngeal squamous cell carcinoma |
|
Abnormal serum interferon-gamma level |
|
Decrease in T cell count |
|
Absence of pubertal development |
|
Non-obstructive azoospermia |
|
Increased female libido |
|
Abnormality of body height |
|
Parathyroid carcinoma |
|
Primary hyperparathyroidism |
|
Elevated circulating parathyroid hormone level |
|
Abnormality of the parathyroid morphology |
|
Infantile hypercalcemia |
|
Shortened QT interval |
|
Episodic abdominal pain |
|
Renal hamartoma |
|
Mandibular pain |
|
Elevated calcitonin |
|
Nodular goiter |
|
Abnormal liver parenchyma morphology |
|
Anaplastic thyroid carcinoma |
|
Laryngotracheal stenosis |
|
Abnormal skeletal muscle morphology |
|
Pituitary carcinoma |
|
Progressive visual field defects |
|
Enlarged pituitary gland |
|
Hyperpituitarism |
|
Abnormality of central motor function |
|
Pituitary gonadotropic cell adenoma |
|
Pituitary thyrotropic cell adenoma |
|
Abnormal left ventricular outflow tract morphology |
|
Persistent left superior vena cava |
|
Perimembranous ventricular septal defect |
|
Aortic valve atresia |
|
Pseudocoarctation of the aorta |
|
Reduced ratio of renal calcium clearance to creatinine clearance |
|
Parathormone-independent increased renal tubular calcium reabsorption |
|
Renal hypophosphatemia |
|
Hypermagnesemia |
|
Hypomagnesiuria |
|
Hypocalcemic seizures |
|
Bifid penis |
|
Ectopic scrotum |
|
Abnormality of the pubic bone |
|
Gastrointestinal duplication |
|
Duplicated colon |
|
Abnormal cardiac ventricle morphology |
|
Talipes calcaneovarus |
|
Heart murmur |
|
Increased arm span |
|
Flared nostrils |
|
Slowed slurred speech |
|
Movement abnormality of the tongue |
|
Facial paralysis |
|
Abnormality of jaw muscles |
|
Abnormality of the cerebral cortex |
|
Aplasia/Hypoplasia of the ribs |
|
Calf muscle hypertrophy |
|
Increased muscle fatiguability |
|
Apneic episodes in infancy |
|
Insulin-resistant diabetes mellitus |
|
Progressive clavicular acroosteolysis |
|
Prominent superficial veins |
|
Osteolytic defects of the phalanges of the hand |
|
Hyperglycemia |
|
Glycosuria |
|
Sclerosis of hand bone |
|
Abnormality of circulating leptin level |
|
Premature arteriosclerosis |
|
Patchy hypo- and hyperpigmentation |
|
Fasting hyperinsulinemia |
|
Intervertebral disc degeneration |
|
Positional foot deformity |
|
Contractures of the large joints |
|
Progressive spastic paraplegia |
|
Small hypothenar eminence |
|
Aplasia/Hypoplasia of the gallbladder |
|
Blood group antigen abnormality |
|
Abnormal cellular immune system morphology |
|
Hyposegmentation of neutrophil nuclei |
|
Overlapping toe |
|
Broad hallux |
|
Contracture of the proximal interphalangeal joint of the 5th finger |
|
Marked delay in bone age |
|
Hypoplasia of the tooth germ |
|
Cerebral dysmyelination |
|
Congenital stationary night blindness |
|
Underdeveloped superior crus of antihelix |
|
Moderate intrauterine growth retardation |
|
Low alkaline phosphatase |
|
Numerous nevi |
|
Cleft earlobe |
|
Abnormal basal ganglia MRI signal intensity |
|
Decreased serum insulin-like growth factor 1 |
|
Bulimia |
|
Renal salt wasting |
|
Increased circulating renin level |
|
Acidosis |
|
Abnormality of cholesterol metabolism |
|
Generalized bronze hyperpigmentation |
|
Low maternal serum estriol |
|
Decreased circulating cortisol level |
|
Abnormality of the Leydig cells |
|
Adrenocorticotropic hormone excess |
|
Abnormal urine potassium concentration |
|
Hypernatriuria |
|
Induced vaginal delivery |
|
Congenital adrenal hyperplasia |
|
Increased serum androstenedione |
|
Elevated circulating 17-hydroxyprogesterone |
|
Abnormal serum dehydroepiandrosterone level |
|
Penoscrotal hypospadias |
|
Neonatal asphyxia |
|
Abnormality of the labia majora |
|
Corneal arcus |
|
Stiff skin |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex |
|
Cerebellar dysplasia |
|
Oppositional defiant disorder |
|
Encopresis |
|
Muscle hypertrophy of the lower extremities |
|
Dyscalculia |
|
Ovarian serous cystadenoma |
|
Retractile testis |
|
Thyroid crisis |
|
Ventricular arrhythmia |
|
Euthyroid hyperthyroxinemia |
|
Abnormal visual field test |
|
Delayed epiphyseal ossification |
|
Small epiphyses |
|
Fragmented epiphyses |
|
Cleft hard palate |
|
Spindle-shaped finger |
|
Square pelvis |
|
Periorbital fullness |
|
Concave nasal ridge |
|
Flared, irregular rib ends |
|
Sea-blue histiocytosis |
|
Onychogryposis of fingernail |
|
Absent hair |
|
Congenital alopecia totalis |
|
Hypovolemic shock |
|
Abnormal dermoepidermal junction morphology |
|
Abnormal dermoepidermal hemidesmosome morphology |
|
4-5 finger syndactyly |
|
Neoplasm of the parathyroid gland |
|
Mitochondrial respiratory chain defects |
|
Sudden death |
|
Decreased lacrimation |
|
Progressive microcephaly |
|
Epileptic spasm |
|
Stereotypical hand wringing |
|
Myoclonic seizure |
|
Appendicular spasticity |
|
Metaphyseal cupping of metacarpals |
|
Abnormality of neutrophil physiology |
|
Hypocalcification of dental enamel |
|
Recurrent mycobacterial infections |
|
Capillary malformation of the lip |
|
Hemihypertrophy of lower limb |
|
Hemihypertrophy of upper limb |
|
Poor coordination |
|
Abnormality of the septum pellucidum |
|
Paroxysmal bursts of laughter |
|
Abnormal bowel sounds |
|
Narrow foramen obturatorium |
|
Foot joint contracture |
|
Joint contracture of the hand |
|
EEG with centrotemporal focal spike waves |
|
Onychomycosis |
|
Anal canal squamous carcinoma |
|
Squamous cell carcinoma of the vulva |
|
Numerous pigmented freckles |
|
Abnormal upper motor neuron morphology |
|
Spastic dysarthria |
|
Posterior lenticonus |
|
Aplasia/Hypoplasia of the macula |
|
Reduced hemoglobin A |
|
Anisocytosis |
|
Decreased mean corpuscular volume |
|
Decreased mean corpuscular hemoglobin concentration |
|
Chronic infection |
|
Chronic hepatitis |
|
High-output congestive heart failure |
|
Vestibular hypofunction |
|
Precocious atherosclerosis |
|
Thoracolumbar kyphoscoliosis |
|
Gonadotropin deficiency |
|
Hypothalamic luteinizing hormone-releasing hormone deficiency |
|
Retinal pigment epithelial mottling |
|
Scintillating scotoma |
|
Hyperconvex toenail |
|
Progressive encephalopathy |
|
Abnormality of the posterior cranial fossa |
|
Activating thyroid-stimulating hormone receptor (TSHR) defect |
|
Hyperemesis gravidarum |
|
Thyroid hyperplasia |
|
Thyrotoxicosis with diffuse goiter |
|
Autoimmune antibody positivity |
|
Stiff interphalangeal joints |
|
Abnormality of metacarpophalangeal joint |
|
Elevated jugular venous pressure |
|
Vitreous floaters |
|
Retinal exudate |
|
Tractional retinal detachment |
|
Difficulty climbing stairs |
|
Muscle fiber splitting |
|
Autophagic vacuoles |
|
Handgrip myotonia |
|
Muscle fiber necrosis |
|
Hyperkinetic movements |
|
Hypocalcemic tetany |
|
Hyperprostaglandinuria |
|
Myoclonic spasms |
|
Hepatic calcification |
|
Abnormality of renal resorption |
|
Pulmonary edema |
|
Parathyroid agenesis |
|
Insulin-resistant diabetes mellitus at puberty |
|
Loss of gluteal subcutaneous adipose tissue |
|
Abnormality of circulating hormone level |
|
Morphea |
|
High-frequency hearing impairment |
|
Short 4th toe |
|
Dilatation of the sinus of Valsalva |
|
Lip hyperpigmentation |
|
Lipoma of corpus callosum |
|
Hypopigmented streaks |
|
Pulmonary valve defects |
|
Diffuse white matter abnormalities |
|
Abnormal myelination |
|
Absence of the pulmonary valve |
|
Dysplastic pulmonary valve |
|
Left aortic arch with right descending aorta and right ductus arteriosus |
|
Left-to-right shunt |
|
Atlantoaxial abnormality |
|
Pinealoma |
|
Impaired convergence |
|
Papilledema |
|
Midline brain calcifications |
|
Limb fasciculations |
|
Multiple intestinal neurofibromatosis |
|
Functional intestinal obstruction |
|
Neoplasm of the adrenal gland |
|
Abnormality of the rectum |
|
Abnormal prostate morphology |
|
EEG with spike-wave complexes |
|
Eyelid myoclonias |
|
Chin myoclonus |
|
Generalized non-motor (absence) seizure |
|
Falls |
|
Atrophic gastritis |
|
Linear hyperpigmentation |
|
Congenital blindness |
|
Absent retinal pigment epithelium |
|
Abnormal fundus morphology |
|
Increased hepatocellular lipid droplets |
|
Abnormality of vitamin metabolism |
|
Renal calcium wasting |
|
Calcium oxalate nephrolithiasis |
|
Abnormal circulating calcium concentration |
|
Increased HDL cholesterol concentration |
|
Eruptive xanthomas |
|
Abnormality of the frontal sinuses |
|
Thoracolumbar scoliosis |
|
Chiari type I malformation |
|
Abnormal columella morphology |
|
Abnormal hippocampus morphology |
|
Finger joint hypermobility |
|
Abnormal temporal bone morphology |
|
Brainstem dysplasia |
|
Autism with high cognitive abilities |
|
Epidermal thickening |
|
Oral motor hypotonia |
|
Cerebral vasculitis |
|
Anterior open-bite malocclusion |
|
Limited neck flexion |
|
Acute encephalopathy |
|
Breech presentation |
|
Abnormality of globe location |
|
Elevated circulating creatinine concentration |
|
Abnormal renal medulla morphology |
|
Abnormal cardiac ventricular function |
|
Renal interstitial amyloid deposits |
|
Glomerulosclerosis |
|
Left bundle branch block |
|
Left ventricular outflow tract obstruction |
|
Paroxysmal nocturnal dyspnea |
|
Sinus bradycardia |
|
Atrial flutter |
|
Cutaneous amyloidosis |
|
Cardiac amyloidosis |
|
Anti-glutamic acid decarboxylase antibody positivity |
|
Liver kidney microsome type 1 antibody positivity |
|
Anti-insulin antibody positivity |
|
Anti-islet antigen-2 antibody positivity |
|
Anti-thyrotropin receptor antibody |
|
Anti-platelet antigen antibody positivity |
|
Abnormal vaginal bleeding |
|
Hemorrhage of the eye |
|
Dermatographic urticaria |
|
Antimitochondrial antibody positivity |
|
Abnormality of the intrahepatic bile duct |
|
Elevated gamma-glutamyltransferase level |
|
Allergic conjunctivitis |
|
Loss of eyelashes |
|
Ocular pain |
|
Chemosis |
|
Abnormality of the thymus |
|
Single fiber EMG abnormality |
|
Fatigable weakness of skeletal muscles |
|
Acetylcholine receptor antibody positivity |
|
Muscle specific kinase antibody positivity |
|
Anti-titin antibody positivity |
|
Anti-ryanodine receptor antibody |
|
Anti-Kv1.4 antibody |
|
Anti-Lrp4 antibody positivity |
|
Pure red cell aplasia |
|
Oxycephaly |
|
Progressive extrapyramidal movement disorder |
|
Psychomotor deterioration |
|
Diffuse cerebral atrophy |
|
Generalized tonic seizures |
|
Small pituitary gland |
|
Abnormality of thalamus morphology |
|
Retinal thinning |
|
Yellow/white lesions of the macula |
|
Elevated tissue non-specific alkaline phosphatase |
|
Abnormal testosterone level |
|
Abnormality of the pubic hair |
|
Sparse facial hair |
|
Decreased palmar creases |
|
Congenital generalized lipodystrophy |
|
Abnormality of the forehead |
|
Loss of facial adipose tissue |
|
Abnormally large globe |
|
Narrow naris |
|
Agoraphobia |
|
Exaggerated startle response |
|
Paraspinal muscle hypertrophy |
|
Anti-Amphiphysin antibody |
|
Anti-DPPX antibody |
|
Anti-Gephyrin antibody |
|
Anti-GlyR antibody |
|
Supranuclear ophthalmoplegia |
|
Abnormal synaptic transmission |
|
Slow saccadic eye movements |
|
Gliosis |
|
Pseudobulbar signs |
|
Increased connective tissue |
|
Absent muscle fiber merosin |
|
Highly elevated creatine kinase |
|
Astrocytosis |
|
Abnormality of the temporomandibular joint |
|
Abnormal brainstem MRI signal intensity |
|
Pontocerebellar atrophy |
|
Pigmented micronodular adrenocortical disease |
|
Ovarian cyst |
|
Euthyroid multinodular goiter |
|
Atypical nevi in non-sun exposed areas |
|
Gonadal neoplasm |
|
Cardiac myxoma |
|
Cutaneous myxoma |
|
Sertoli cell neoplasm |
|
Growth abnormality |
|
Nodular changes affecting the eyelids |
|
Abnormal sperm motility |
|
Ovarian dermoid cyst |
|
Ovarian carcinoma |
|
Testicular adrenal rest tumor |
|
Paranasal sinus neoplasm |
|
Ductal carcinoma in situ |
|
Schwannoma |
|
Leydig cell neoplasia |
|
Neoplasm of the pharynx |
|
Abnormal hard palate morphology |
|
Slow decrease in visual acuity |
|
Centrocecal scotoma |
|
Retinal vascular tortuosity |
|
Postural tremor |
|
Ventricular preexcitation |
|
Reduced contrast sensitivity |
|
Maternal virilization in pregnancy |
|
Abnormal midface morphology |
|
Abnormality of the maxilla |
|
Diastema |
|
Cleft lower lip |
|
Fusion of gums |
|
Irregular dentition |
|
Abnormality of orbicularis oris muscle |
|
Hypoplasia of the brainstem |
|
Diffuse axonal swelling |
|
Neuronal loss in the cerebral cortex |
|
Abnormal cartilage matrix |
|
Supernumerary naris |
|
Abnormality of ethmoid sinus |
|
Elevated circulating hepcidin concentration |
|
Angular cheilitis |
|
Cerebellar malformation |
|
Anterior segment developmental abnormality |
|
Macrocephaly at birth |
|
Abnormal biliary tract morphology |
|
Hypoplasia of the fallopian tube |
|
Focal tonic seizure |
|
Increased adipose tissue |
|
Macular hole |
|
Blind-spot enlargment |
|
Epiretinal membrane |
|
Macular scar |
|
Arcuate scotoma |
|
Cystoid macular edema |
|
Vitritis |
|
Photoreceptor layer loss on macular OCT |
|
Hyperproteinemia |
|
Increased circulating IgG level |
|
Abnormality of vitamin B12 metabolism |
|
Deep anterior chamber |
|
Corneal stromal edema |
|
Open angle glaucoma |
|
Herpetiform corneal ulceration |
|
Descemet Membrane Folds |
|
Decreased corneal sensation |
|
Herpetiform vesicles |
|
Abnormality of glutamine metabolism |
|
Increased serum bile acid concentration |
|
Abnormal respiratory system physiology |
|
Biventricular hypertrophy |
|
Decreased circulating thyroxine level |
|
Absent ossification of capital femoral epiphysis |
|
Increased adipose tissue around the neck |
|
Decreased serum leptin |
|
Decreased adiponectin level |
|
Iris neovascularization |
|
Retinal vein occlusion |
|
Abnormal uvea morphology |
|
Abnormality of central retinal artery |
|
Abnormality of the posterior segment of the globe |
|
Uveal ectropion |
|
Alveolar rhabdomyosarcoma |
|
Cerebellar medulloblastoma |
|
Medulloepithelioma |
|
Right ventricular hypertrophy |
|
Increased pulmonary vascular resistance |
|
Abnormal jugular vein morphology |
|
Ankle swelling |
|
Chronic hemolytic anemia |
|
Limited elbow flexion |
|
Thin bony cortex |
|
Limited hip movement |
|
Abnormal trabecular bone morphology |
|
Intracranial cystic lesion |
|
Infantile axial hypotonia |
|
Abnormality of the mitochondrion |
|
Low-output congestive heart failure |
|
Elevated hemoglobin A1c |
|
Bilateral ptosis |
|
Clinodactyly of the 4th finger |
|
Lower limb muscle weakness |
|
Tibialis muscle weakness |
|
Muscle fiber inclusion bodies |
|
Absent Achilles reflex |
|
Limited wrist extension |
|
Limited shoulder movement |
|
Hip flexor weakness |
|
EMG: positive sharp waves |
|
Abnormality of the foot musculature |
|
Lower limb amyotrophy |
|
Abnormality of the right hemidiaphragm |
|
Difficulty standing |
|
Decreased proportion of CD4-positive T cells |
|
Calf muscle pseudohypertrophy |
|
Prominent veins on trunk |
|
Corneal crystals |
|
Abnormal blood ion concentration |
|
Low-molecular-weight proteinuria |
|
Hyperchloremic metabolic acidosis |
|
Abnormality of vitamin D metabolism |
|
Abnormality of thyroid physiology |
|
Infra-orbital fold |
|
Cranium bifidum occultum |
|
Narrow nasal tip |
|
Abnormality of the femoral metaphysis |
|
Abnormal lactate dehydrogenase activity |
|
Fasting hypoglycemia |
|
Reactive hypoglycemia |
|
Abnormality of the head |
|
Premature closure of fontanelles |
|
Short stepped shuffling gait |
|
Leg muscle stiffness |
|
Abnormality of nervous system physiology |
|
Shuffling gait |
|
Hypomimic face |
|
Areflexia of lower limbs |
|
Sensory axonal neuropathy |
|
Cervical spinal cord atrophy |
|
Abnormality of central motor conduction |
|
Impaired visually enhanced vestibulo-ocular reflex |
|
Hand muscle atrophy |
|
Abnormal saccadic eye movements |
|
Square-wave jerks |
|
Epicanthus inversus |
|
Limited pronation/supination of forearm |
|
Large fleshy ears |
|
Caudal appendage |
|
Prominent coccyx |
|
Gonadal calcification |
|
Dysgerminoma |
|
Oval face |
|
Moderate receptive language delay |
|
Hypoplastic areola |
|
Overfolding of the superior helices |
|
Steep acetabular roof |
|
Metopic depression |
|
Incomplete ossification of pubis |
|
Abnormal periosteum morphology |
|
Renal tubular atrophy |
|
Focal segmental glomerulosclerosis |
|
Renal phosphate wasting |
|
Sparse bone trabeculae |
|
Bulging epiphyses |
|
Enlarged epiphyses |
|
Enlargement of the wrists |
|
Enlargement of the ankles |
|
Increased serum 1,25-dihydroxyvitamin D3 |
|
Tubulointerstitial fibrosis |
|
Non-acidotic proximal tubulopathy |
|
Abdominal symptom |
|
Hepatic amyloidosis |
|
Albuminuria |
|
Decreased QRS voltage |
|
Periorbital purpura |
|
Increased circulating NT-proBNP concentration |
|
Monoclonal light chain cardiac amyloidosis |
|
Increased circulating troponin I concentration |
|
Increased troponin T level in blood |
|
Abnormal cardiac atrium morphology |
|
Postural hypotension with compensatory tachycardia |
|
Reduced factor X activity |
|
Autonomic erectile dysfunction |
|
Pulmonary interstitial high-resolution computed tomography abnormality |
|
Abnormal P wave |
|
Howell-Jolly bodies |
|
Transthyretin cardiac amyloidosis |
|
Autonomic bladder dysfunction |
|
Hypoketotic hypoglycemia |
|
Abnormal circulating fatty-acid concentration |
|
Increased hepatic glycogen content |
|
Ureterovesical stenosis |
|
Contracture of the proximal interphalangeal joint of the 3rd finger |
|
Contracture of the proximal interphalangeal joint of the 2nd finger |
|
Abnormality of the incisor |
|
Abnormal finger flexion creases |
|
Abnormality of the coccyx |
|
Abnormal oral glucose tolerance |
|
Nephritis |
|
Abnormality of body weight |
|
Decreased serum complement factor B |
|
Enlarged ovaries |
|
Ketosis |
|
Diabetic ketoacidosis |
|
Hodgkin lymphoma |
|
Proportionate tall stature |
|
Premature pubarche |
|
Hypoinsulinemia |
|
Transient neonatal diabetes mellitus |
|
Cranial asymmetry |
|
Aplasia/Hypoplasia of the optic nerve |
|
Globozoospermia |
|
Abnormal sperm morphology |
|
Sperm tail anomaly |
|
Abnormality of midbrain morphology |
|
Widened subarachnoid space |
|
Abnormal pupillary light reflex |
|
Reduced pancreatic beta cells |
|
Contractures of the joints of the lower limbs |
|
Microalbuminuria |
|
Pancreatic hypoplasia |
|
Prelingual sensorineural hearing impairment |
|
Small placenta |
|
Congenital bilateral ptosis |
|
Hemorrhagic ovarian cyst |
|
Microvesicular hepatic steatosis |
|
Vacuolated lymphocytes |
|
Coronary atherosclerosis |
|
Fatal liver failure in infancy |
|
Abnormality of the sella turcica |
|
Abnormality of the odontoid process |
|
Teratoma |
|
Abnormality of joint mobility |
|
Abnormal hypothalamus morphology |
|
Abnormality of the plantar skin of foot |
|
Abnormality of masseter muscle |
|
Capillary leak |
|
Diffuse leiomyomatosis |
|
Abnormality of the endometrium |
|
Cervical spinal canal stenosis |
|
Abnormality of the pineal gland |
|
Tongue thrusting |
|
Abnormal eating behavior |
|
Small face |
|
Bullet-shaped distal phalanx of the hallux |
|
Delayed fine motor development |
|
Absent antihelix |
|
Abnormality of central sensory function |
|
Self-biting |
|
Stereotypical body rocking |
|
Abnormal parotid gland morphology |
|
Abnormality of the breast |
|
Abnormal esophagus morphology |
|
Vestibular schwannoma |
|
Peripheral schwannoma |
|
Abnormality of the twelfth cranial nerve |
|
Abnormality of peripheral nervous system electrophysiology |
|
Allodynia |
|
Scleral schwannoma |
|
Neurofibrosarcoma |
|
Forearm undergrowth |
|
Ulnar radial head dislocation |
|
Episodic ketoacidosis |
|
Increased C-peptide level |
|
Excessive insulin response to glucagon test |
|
Episodic hyperhidrosis |
|
Hypoglycemic seizures |
|
Neurodevelopmental abnormality |
|
Diffuse pancreatic islet hyperplasia |
|
Hypoglycemic coma |
|
Decreased circulating free fatty acid level |
|
Focal pancreatic islet hyperplasia |
|
Low levels of vitamin B1 |
|
Abnormality of the internal auditory canal |
|
Severe conductive hearing impairment |
|
Abnormal patella morphology |
|
Wide humerus |
|
Equinovarus deformity |
|
Congenital onychodystrophy |
|
Onychauxis |
|
Zollinger-Ellison syndrome |
|
Abnormality of the pancreatic islet cells |
|
Fluctuations in consciousness |
|
Abnormality of pain sensation |
|
Frontotemporal dementia |
|
Frontotemporal cerebral atrophy |
|
Grammar-specific speech disorder |
|
Spoken Word Recognition Deficit |
|
Alexia |
|
EEG with continuous slow activity |
|
Abnormal brain FDG positron emission tomography |
|
Abnormal lower motor neuron morphology |
|
Motor aphasia |
|
Perseveration |
|
Senile plaques |
|
Neurofibrillary tangles |
|
Brain neoplasm |
|
Lewy bodies |
|
Severe B lymphocytopenia |
|
Abnormal size of pituitary gland |
|
Abnormality of the periungual region |
|
Ventricular hypertrophy |
|
Papillary renal cell carcinoma |
|
Aortic atherosclerosis |
|
Inappropriate behavior |
|
Restrictive behavior |
|
Lack of insight |
|
Emotional blunting |
|
Collectionism |
|
Abulia |
|
No social interaction |
|
Ketotic hypoglycemia |
|
Increased resting energy expenditure |
|
Carotid artery dissection |
|
Recurrent cerebral hemorrhage |
|
Carotid artery tortuosity |
|
Arterial fibromuscular dysplasia |
|
Lipemia retinalis |
|
Atheromatosis |
|
Tendon xanthomatosis |
|
Xanthomas of the palmar creases |
|
Tuberous xanthoma |
|
Renal steatosis |
|
Accelerated atherosclerosis |
|
Glucocortocoid-insensitive primary hyperaldosteronism |
|
Abnormal circulating renin |
|
Secretory adrenocortical adenoma |
|
Metabolic alkalosis |
|
Dexamethasone-suppresible primary hyperaldosteronism |
|
Thyroid defect in oxidation and organification of iodide |
|
Increased circulating thyroglobulin level |
|
Maternal autoimmune disease |
|
Postterm pregnancy |
|
Abnormal radioactive iodine uptake test result |
|
Macrovesicular hepatic steatosis |
|
Acute hepatic steatosis |
|
Cholesterol gallstones |
|
Abnormality of vitamin A metabolism |
|
Abnormality of vitamin E metabolism |
|
Chronic noninfectious lymphadenopathy |
|
Chronic lung disease |
|
Renal cortical adenoma |
|
Renal oncocytoma |
|
Neoplasm of head and neck |
|
Abnormality of neck blood vessel |
|
Nasal congestion |
|
Pituitary null cell adenoma |
|
Abnormal prolactin level |
|
Pancreatic calcification |
|
EEG with generalized slow activity |
|
Diaphyseal dysplasia |
|
Decreased number of peripheral myelinated nerve fibers |
|
Increased hematocrit |
|
Transudative pleural effusion |
|
Neoplasm of the posterior pituitary |
|
Pituicytoma |
|
Abnormality of circulating adrenocorticotropin level |
|
Diffuse telangiectasia |
|
Prominent superficial blood vessels |
|
Transient hypophosphatemia |
|
Thyrotoxicosis with toxic multinodular goitre |
|
Thyrotoxicosis with toxic single thyroid nodule |
|
Decreased urinary potassium |
|
Rhabdomyolysis |
|
Shortened PR interval |
|
Second degree atrioventricular block |
|
Anterior pituitary agenesis |
|
Pituitary dwarfism |
|
Decreased cervical spine mobility |
|
Abnormal digit morphology |
|
Ectopic anterior pituitary gland |
|
Hyperplasia of the Leydig cells |
|
Bilateral breast hypoplasia |
|
Allergic rhinitis |
|
Protein-losing enteropathy |
|
Abnormal respiratory motile cilium morphology |
|
Chronic sinusitis |
|
Perioral hyperpigmentation |
|
Absent lower eyelashes |
|
Absent facial hair |
|
Flared metaphyses (elbow) |
|
Lower limb hyperreflexia |
|
EMG: neuropathic changes |
|
Increased spinal bone density |
|
Tongue fasciculations |
|
Aorto-ventricular tunnel |
|
Abnormal coronary artery morphology |
|
Abnormal cellular phenotype |
|
Abnormality of lateral ventricle |
|
Abnormal iris pigmentation |
|
Abnormal corneal endothelium morphology |
|
Pigment deposition in the trabecular meshwork |
|
Iris pigment dispersion |
|
Enlargement of parotid gland |
|
Enuresis nocturna |
|
Hyposthenuria |
|
Hypernatremia |
|
Hypernatremic dehydration |
|
Isosexual precocious puberty |
|
Unilateral conductive hearing impairment |
|
Abnormality of the tympanic membrane |
|
Abnormality of the auditory canal |
|
Caesarian section |
|
Focal myoclonic seizure |
|
EMG: impaired neuromuscular transmission |
|
Abnormality of tumor necrosis factor secretion |
|
Myokymia |
|
Muscle fibrillation |
|
EMG: myokymic discharges |
|
Anti-CASPR2 |
|
Progressive spastic paraparesis |
|
Hyperkalemic metabolic acidosis |
|
Androgen insufficiency |
|
Acute respiratory tract infection |
|
Salt craving |
|
Thiamine-responsive megaloblastic anemia |
|
Primary testicular failure |
|
Generalized bone demineralization |
|
Unicameral bone cyst |
|
Decreased circulating renin level |
|
Increased urinary potassium |
|
Stomatocytosis |
|
Episodic hemolytic anemia |
|
Brain abscess |
|
Decreased serum ferritin |
|
Esophageal web |
|
Geophagia |
|
EEG with irregular generalized spike and wave complexes |
|
Poor motor coordination |
|
Poor hand-eye coordination |
|
Leber optic atrophy |
|
Photosensitive tonic-clonic seizures |
|
Hamstring contractures |
|
Abnormality of fibular epiphyses |
|
Posterior plagiocephaly |
|
Reticulocytopenia |
|
Dysplastic erythropoesis |
|
Poikilocytosis |
|
Abnormality of cells of the erythroid lineage |
|
Abnormal proerythroblast morphology |
|
Increased total iron binding capacity |
|
Post-partum hemorrhage |
|
Oral cavity bleeding |
|
Flat forehead |
|
Unilateral ptosis |
|
Speech articulation difficulties |
|
Lumbar kyphoscoliosis |
|
3-4 toe syndactyly |
|
Persistent bleeding after trauma |
|
Hemothorax |
|
Intramuscular hematoma |
|
Reduced euglobulin clot lysis time |
|
Abnormal umbilical stump bleeding |
|
Hypoglycorrhachia |
|
Generalized hyperreflexia |
|
Extrapyramidal dyskinesia |
|
T-cell lymphoma/leukemia |
|
Altitudinal visual field defect |
|
Prolonged bleeding after dental extraction |
|
Abnormality of the intrinsic pathway |
|
Arterial calcification |
|
Abnormal vascular morphology |
|
Decreased serum creatinine |
|
Reduced red cell pyruvate kinase level |
|
Congenital hemolytic anemia |
|
Prolonged bleeding after surgery |
|
Cerebral cavernous malformation |
|
Focal T2 hypointense brainstem lesion |
|
Neuroma |
|
Choroidal hemangioma |
|
Retinal cavernous angioma |
|
Thoracic aorta calcification |
|
Anal canal squamous cell carcinoma |
|
Anal canal adenocarcinoma |
|
Parietal bossing |
|
Short tubular bones of the hand |
|
Overtubulated long bones |
|
Vertebral arch anomaly |
|
Thin calvarium |
|
Abnormality of the skull base |
|
Delayed patellar ossification |
|
Wide proximal femoral metaphysis |
|
Anterior plagiocephaly |
|
Abnormality of cranial sutures |
|
Hemiatrophy of upper limb |
|
Abnormality of the chin |
|
Abnormal metatarsal morphology |
|
Rhizo-meso-acromelic limb shortening |
|
Multiple rows of eyelashes |
|
Narrow philtrum |
|
Hyperoxaluria |
|
Abnormality of circulating enzyme level |
|
Abnormality of the thenar eminence |
|
Punctate opacification of the cornea |
|
Abnormal corneal epithelium morphology |
|
Iris atrophy |
|
Microangiopathic hemolytic anemia |
|
Parathyroid hypoplasia |
|
Abnormality of T cell physiology |
|
Abnormality of the nipple |
|
Axillary and groin hyperpigmentation and hypopigmentation |
|
Macular telangiectasia |
|
Abnormality of the skin of the palm |
|
Reduced circulating prolactin concentration |
|
Flatulence |
|
Abdominal colic |
|
Bloody diarrhea |
|
Premature osteoarthritis |
|
Decreased hip abduction |
|
Abnormality of skeletal physiology |
|
Quadriceps muscle atrophy |
|
Abnormality of gastrointestinal vasculature |
|
Rectal abscess |
|
Ulcerative colitis |
|
Anal pain |
|
Tenesmus |
|
Jerky ocular pursuit movements |
|
Vertical nystagmus |
|
Generalized cerebral atrophy/hypoplasia |
|
Cerebellar Purkinje layer atrophy |
|
Paroxysmal dyskinesia |
|
Accelerated bone age after puberty |
|
Panhypogammaglobulinemia |
|
Uplifted earlobe |
|
Labial hypertrophy |
|
Small anterior fontanelle |
|
Abnormality of the placenta |
|
2-4 toe syndactyly |
|
Hyperparakeratosis |
|
Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) |
|
Increased subcutaneous truncal adipose tissue |
|
Increased circulating free fatty acid level |
|
Abnormal tongue morphology |
|
Membranoproliferative glomerulonephritis |
|
Increased blood urea nitrogen |
|
Abnormal retinal morphology on macular OCT |
|
Hyporeflexia of lower limbs |
|
Neck flexor weakness |
|
Abetalipoproteinemia |
|
Chaddock reflex |
|
Hypofibrinogenemia |
|
Abnormal C-peptide level |
|
Abnormal umbilical cord blood vessels |
|
Maternal hypertension |
|
Nodular regenerative hyperplasia of liver |
|
Myocardial fibrosis |
|
Abnormality of the amniotic fluid |
|
Respiratory infections in early life |
|
C1-C2 vertebral abnormality |
|
Primary peritoneal carcinoma |
|
Conotruncal defect |
|
Cerebral cortical hemiatrophy |
|
Hepatic necrosis |
|
Epigastric pain |
|
Aplasia/Hypoplasia involving the skeletal musculature |
|
Macrogyria |
|
Abnormality of the cheek |
|
Thyroid dysgenesis |
|
Microtia, third degree |
|
Segmental peripheral demyelination/remyelination |
|
Sensory ataxia |
|
Peripheral demyelination |
|
Motor conduction block |
|
Anti-neurofascin-155 antibody positivity |
|
Anti-neurofascin 186 antibody positivity |
|
Anti-contactin-1 antibody positivity |
|
Anti-contactin-associated protein 1 antibody positivity |
|
Spontaneous pain sensation |
|
Duplication of thumb phalanx |
|
Abnormal pelvis bone morphology |
|
Axonal loss |
|
Decreased amplitude of sensory action potentials |
|
Abnormality of the vertebral endplates |
|
Shoulder pain |
|
Reduced factor IX activity |
|
Cephalohematoma |
|
Delayed onset bleeding |
|
Narrow nasal ridge |
|
Minimal subcutaneous fat |
|
Increased facial adipose tissue |
|
Proximal upper limb muscle hypertrophy |
|
Neurodegeneration |
|
Abnormal fear/anxiety-related behavior |
|
Primitive reflex |
|
Abnormal involuntary eye movements |
|
Glabellar reflex |
|
Punctate periventricular T2 hyperintense foci |
|
Respiratory failure requiring assisted ventilation |
|
Hyperoxemia |
|
Right ventricular failure |
|
Enlarged peripheral nerve |
|
Subcutaneous neurofibromas |
|
Peripheral nerve compression |
|
Paraspinal neurofibromas |
|
Symmetric spinal nerve root neurofibromas |
|
Atypical neurofibromatosis |
|
Palmar neurofibromas |
|
Facial neoplasm |
|
Spinal meningioma |
|
Neoplasia of the pleura |
|
Neoplasm of the trachea |
|
Chromosomal breakage induced by ionizing radiation |
|
Increased sensitivity to ionizing radiation |
|
Intracranial meningioma |
|
Focal T2 hypointense thalamic lesion |
|
Decreased circulating follicle stimulating hormone level |
|
Decreased circulating luteinizing hormone level |
|
Weak extraocular muscles |
|
Hypothalamic hypothyroidism |
|
Neoplasm of the anterior pituitary |
|
Abnormal hypothalamus physiology |
|
Abnormal kinetic perimetry test |
|
Progressive pulmonary function impairment |
|
Hemifacial spasm |
|
Ear pain |
|
Increased urine alpha-ketoglutarate concentration |
|
Decreased plasma carnitine |
|
Hyperisoleucinemia |
|
Pulmonic valve myxoma |
|
Abnormal neuron morphology |
|
Motor neuron atrophy |
|
Progressive macrocephaly |
|
Cerebellar ataxia associated with quadrupedal gait |
|
Cerebellar cyst |
|
Adenomatous colonic polyposis |
|
Cerebellar calcifications |
|
Total ophthalmoplegia |
|
Cerebellar hemorrhage |
|
Abnormal aldolase level |
|
Hyperextensibility at wrists |
|
Increased laxity of fingers |
|
Increased endomysial connective tissue |
|
Pes valgus |
|
Prolonged QTc interval |
|
Lupus anticoagulant |
|
Decreased circulating complement C4 concentration |
|
Serositis |
|
Constitutional symptom |
|
Intestinal edema |
|
Laryngeal edema |
|
Limbal edema |
|
Tongue edema |
|
Abnormality of salivation |
|
Inspiratory stridor |
|
Pharyngeal edema |
|
Abnormality of skin physiology |
|
Sclerosis of skull base |
|
Sclerotic vertebral endplates |
|
Metaphyseal sclerosis |
|
Elevated vascular endothelial growth factor level |
|
Clubbing of fingers |
|
Sclerosis of foot bone |
|
Glomeruloid hemangioma |
|
Deformed humerus |
|
Mandibular condyle hypoplasia |
|
Increased size of the clitoris |
|
Reduced intraabdominal adipose tissue |
|
T-wave inversion |
|
Congenital malformation of the great arteries |
|
Abnormality of pulmonary situs |
|
Abnormality of abdominal situs |
|
Aplasia/Hypoplasia of the ear |
|
Abnormal esophagus physiology |
|
Humerus varus |
|
Long palm |
|
Band keratopathy |
|
Abnormal muscle tone |
|
Lack of facial subcutaneous fat |
|
Fragile teeth |
|
Abnormal conjunctiva morphology |
|
Paroxysmal vertigo |
|
CNS demyelination |
|
Abnormal serum iron |
|
Abnormal transferrin saturation |
|
Normochromic anemia |
|
Decreased male libido |
|
Chronic lymphocytic meningitis |
|
Abnormality of the posterior pituitary |
|
Thunderclap headache |
|
Facial hyperostosis |
|
Increased T cell count |
|
Stercoral ulcer |
|
Abnormality of epidermal morphology |
|
Abnormal mast cell morphology |
|
Abnormality of buccal mucosa |
|
Pelvic pain |
|
Posterior cortical cataract |
|
Tritanomaly |
|
Red-green dyschromatopsia |
|
Anterior cortical cataract |
|
Cerulean cataract |
|
Anterior subcapsular cataract |
|
Nuclear cataract |
|
Abnormal megakaryocyte morphology |
|
Macrothrombocytopenia |
|
Decreased T cell activation |
|
Glioblastoma multiforme |
|
Hematological neoplasm |
|
Malignant genitourinary tract tumor |
|
Laryngeal carcinoma |
|
Cardiac diverticulum |
|
Salivary gland neoplasm |
|
Dacryocystitis |
|
Abnormality of the cerebrospinal fluid |
|
Enlarged lacrimal glands |
|
Parotitis |
|
Abnormality of the nasal mucosa |
|
Abnormal sclera morphology |
|
Punctate keratitis |
|
Allergy |
|
Deficit in phonologic short-term memory |
|
Jaw pain |
|
Simplified gyral pattern |
|
Hypointensity of cerebral white matter on MRI |
|
Kayser-Fleischer ring |
|
Acute hepatitis |
|
Orofacial dyskinesia |
|
Oculogyric crisis |
|
Abnormality of coordination |
|
Inappropriate crying |
|
EEG with polyspike wave complexes |
|
Abnormal static automated perimetry test |
|
Abnormal caudate nucleus morphology |
|
Recurrent paroxysmal headache |
|
Lafora bodies |
|
Coronary artery stenosis |
|
Progressive peripheral neuropathy |
|
Orange discoloured tonsils |
|
Facial diplegia |
|
Impaired thermal sensitivity |
|
Carotid artery stenosis |
|
Secretory diarrhea |
|
Intermittent jaundice |
|
Abnormality of abdomen morphology |
|
Abnormal gastrointestinal motility |
|
Benign gastrointestinal tract tumors |
|
Hyperglycinemia |
|
EEG with burst suppression |
|
Abnormal metabolic brain imaging by MRS |
|
Respiratory acidosis |
|
Abnormal large intestine physiology |
|
Abnormal thrombosis |
|
Stroke-like episode |
|
Bilateral basal ganglia lesions |
|
Abnormality of upper lip vermillion |
|
Abnormal periventricular white matter morphology |
|
Giant platelets |
|
Abnormal platelet granules |
|
Pulmonary hemorrhage |
|
Abnormal glycosylation |
|
Impaired smooth pursuit |
|
Abnormality of basophils |
|
Excessive wrinkling of palmar skin |
|
Neoplasm by anatomical site |
|
Hypoactive bowel sounds |
|
Intestinal carcinoid |
|
Abnormal platelet aggregation |
|
Parathyroid hyperplasia |
|
Glucagonoma |
|
Increased glucagon level |
|
Abnormality of limb epiphysis morphology |
|
Palmoplantar cutis laxa |
|
Delayed pubic bone ossification |
|
Abnormal placental size |
|
Abnormality of ethmoid bone |
|
Abnormal mandible condylar process morphology |
|
Abnormality of acid-base homeostasis |
|
Cardiogenic shock |
|
Stomatitis |
|
Necrolytic migratory erythema |
|
Choroidal melanoma |
|
Iris melanoma |
|
Ciliary body melanoma |
|
Inferior lens subluxation |
|
Zonular cataract |
|
Abnormal visual accommodation |
|
Palmoplantar hyperhidrosis |
|
Gallbladder dysfunction |
|
Difficulty adjusting from light to dark |
|
Aortic dilatation |
|
Sparse anterior scalp hair |
|
Aplasia/Hypoplasia of the fallopian tube |
|
Pigment gallstones |
|
Retinal arterial occlusion |
|
Finger dactylitis |
|
Priapism |
|
Abnormality of the joint spaces of the elbow |
|
Mesomelic leg shortening |
|
Aplasia/hypoplasia involving bones of the hand |
|
Partial absence of foot |
|
Hypoplasia of the gallbladder |
|
Common atrium |
|
Action tremor |
|
Gaze-evoked horizontal nystagmus |
|
Abnormal circulating histidine concentration |
|
Urocanic aciduria |
|
Dilation of Virchow-Robin spaces |
|
Delayed CNS myelination |
|
Decreased scrotal rugation |
|
Broad chin |
|
Hypoplasia of right ventricle |
|
Hypoplastic tricuspid valve |
|
Double outlet left ventricle |
|
Biliary atresia |
|
Congenital defect of the pericardium |
|
Mild microcephaly |
|
Malrotation of small bowel |
|
EEG with focal sharp slow waves |
|
Atypical absence seizure |
|
Personality disorder |
|
Abnormality of the 5th toe |
|
Amyotrophic lateral sclerosis |
|
Progressive distal muscular atrophy |
|
Hoffmann sign |
|
Jaw hyperreflexia |
|
Symphalangism of the 4th finger |
|
Reduced proximal interphalangeal joint space |
|
Absent distal interphalangeal creases |
|
Small thenar eminence |
|
Absent distal phalanges |
|
Symphalangism affecting the phalanges of the toes |
|
Abnormality of the distal phalanges of the toes |
|
Cutaneous syndactyly between fingers 2 and 5 |
|
Short distal phalanx of hallux |
|
Aplasia/Hypoplasia of the distal phalanx of the 5th toe |
|
Abnormal proximal phalanx morphology of the hand |
|
Abnormality of the proximal phalanx of the hallux |
|
Aplasia of the middle phalanx of the hand |
|
Bulbous tips of toes |
|
Large tarsal bones |
|
Chess-pawn distal phalanges |
|
Enlarged tonsils |
|
Abnormal circulating insulin level |
|
Bilateral tonic-clonic seizure with focal onset |
|
Angiofibromas |
|
Abnormality of pancreas physiology |
|
Insulinoma |
|
Confetti-like hypopigmented macules |
|
Abnormality of the periorbital region |
|
Clubbing |
|
Prominent nasolabial fold |
|
Barrel-shaped chest |
|
Intervertebral space narrowing |
|
Recurrent infections of the middle ear |
|
Abnormality of the subungual region |
|
Anaphylactic shock |
|
Decreased serum complement factor I |
|
Decreased level of thrombomodulin |
|
Spinal deformities |
|
Poor gross motor coordination |
|
Morning myoclonic jerks |
|
Elevated alkaline phosphatase of hepatic origin |
|
Spider hemangioma |
|
Dilated superficial abdominal veins |
|
Adenocarcinoma of the large intestine |
|
Neoplasm of the gallbladder |
|
Recurrent systemic pyogenic infections |
|
Low-set nipples |
|
Low hanging columella |
|
Hooded eyelid |
|
Submucous cleft lip |
|
Severe hearing impairment |
|
Abnormal number of permanent teeth |
|
Small toe |
|
Juxtaductal coarctation of the aorta |
|
Inappropriate sexual behavior |
|
Abnormality of adrenal physiology |
|
Regional abnormality of skin |
|
Focal dystonia |
|
Jerky head movements |
|
Abnormality of the 5th finger |
|
Symphalangism of the thumb |
|
Distal femoral bowing |
|
Elevated alkaline phosphatase of bone origin |
|
Abnormality of renal excretion |
|
Low serum calcitriol |
|
Pseudo-fractures |
|
Abnormal nasal bone morphology |
|
Abnormality of the frontal bone |
|
Myoglobinuria |
|
Abnormality of the sphenoid sinus |
|
Secondary hypercorticolism |
|
Fish odor |
|
Pili canaliculi |
|
Abnormality of the sweat gland |
|
Epigastric auras |
|
Periorbital wrinkles |
|
Abnormality of the vertebral spinous processes |
|
Abnormality of dentin |
|
Advanced pneumatization of the mastoid process |
|
Blepharochalasis |
|
Rootless teeth |
|
Unilateral cleft palate |
|
Upper limb peromelia |
|
Amelia involving the lower limbs |
|
Recurrent pancreatitis |
|
Splanchnic vein thrombosis |
|
Knee dislocation |
|
Abnormal foveal morphology on macular OCT |
|
Trichiasis |
|
Curved linear dimple below the lower lip |
|
Bitemporal forceps marks |
|
Secondary hyperparathyroidism |
|
Myocardial steatosis |
|
Abnormal internal carotid artery morphology |
|
Abnormal eye physiology |
|
Coronary artery aneurysm |
|
Hyperchylomicronemia |
|
Perianal abscess |
|
Red hair |
|
Autoimmune hypoparathyroidism |
|
Calcium nephrolithiasis |
|
Laryngeal dystonia |
|
Hyperostosis frontalis interna |
|
Broad distal phalanx of the thumb |
|
Short 3rd metacarpal |
|
Osteoma cutis |
|
Low urinary cyclic AMP response to PTH administration |
|
Pituitary resistance to thyroid hormone |
|
Basal ganglia calcification |
|
Choroid plexus calcification |
|
Broad 1st metacarpal |
|
Diaphyseal sclerosis |
|
Cortical subperiosteal resorption of humeral metaphyses |
|
Increased bone density with cystic changes |
|
Periauricular skin pits |
|
Incomplete cleft of the upper lip |
|
Hypoplasia of the frontal lobes |
|
Aplasia/Hypoplasia of the spleen |
|
Non-caseating epithelioid cell granulomatosis |
|
Hepatic cysts |
|
Increased serum serotonin |
|
Bronchospasm |
|
Erythematous plaque |
|
Intrahepatic cholestasis with episodic jaundice |
|
Elevated carcinoembryonic antigen level |
|
Dermatological manifestations of systemic disorders |
|
Protracted diarrhea |
|
Bowel urgency |
|
Abnormal pulmonary valve cusp morphology |
|
Abnormality of reproductive system physiology |
|
Increased serum estradiol |
|
Elevated serum 11-deoxycortisol |
|
Abnormality of circulating catecholamine level |
|
Neoplasm of the larynx |
|
Inappropriate antidiuretic hormone secretion |
|
Merkel cell skin cancer |
|
Lymphoid leukemia |
|
Neoplasm of the outer ear |
|
Mechanical ileus |
|
Elevated serum acid phosphatase |
|
Ileal adenocarcinoma |
|
Adenocarcinoma of the colon |
|
Primary hypercortisolism |
|
Midgut malrotation |
|
Appendiceal mucinous neoplasm |
|
Potter facies |
|
Ovoid thoracolumbar vertebrae |
|
Birth length less than 3rd percentile |
|
Enlarged labia minora |
|
Muscle fiber tubular inclusions |
|
Centrally nucleated skeletal muscle fibers |
|
Type 2 muscle fiber atrophy |
|
Abnormal B-type natriuretic peptide level |
|
Rhinorrhea |
|
Abnormality of the dental pulp |
|
Abnormality of molar morphology |
|
Abnormality of canine |
|
High-frequency sensorineural hearing impairment |
|
Pulp stones |
|
Agenesis of premolar |
|
Otitis media with effusion |
|
Generalized keratosis follicularis |
|
Subcapsular cataract |
|
Central opacification of the cornea |
|
Thinning of Descemet membrane |
|
Multiple skeletal anomalies |
|
Long clavicles |
|
Absent proximal finger flexion creases |
|
Aplasia/Hypoplasia of the scapulae |
|
Bilateral microphthalmos |
|
Prominent protruding coccyx |
|
Acetabular dysplasia |
|
Neonatal short-trunk short stature |
|
Thick anterior alveolar ridges |
|
Decreased sialylation of O-linked protein glycosylation |
|
Elevated creatine kinase after exercise |
|
Abnormal protein N-linked glycosylation |
|
Abnormal protein O-linked glycosylation |
|
Complex febrile seizure |
|
Type II transferrin isoform profile |
|
Recurrent infection of the gastrointestinal tract |
|
Neonatal sepsis |
|
Eye of the tiger anomaly of globus pallidus |
|
Oromandibular dystonia |
|
Abnormal conjugate eye movement |
|
Limb dysmetria |
|
Absence of lymph node germinal center |
|
Lack of T cell function |
|
Recurrent opportunistic infections |
|
Pulmonary insufficiency |
|
Absent tonsils |
|
Abnormality of the pons |
|
Ventricular septal hypertrophy |
|
ST segment elevation |
|
Decreased muscle glycogen content |
|
Cardiomyocyte hypertrophy |
|
Increased mitochondrial number |
|
Aplasia of the distal phalanges of the hand |
|
Aplasia of the distal phalanx of the hallux |
|
Short proximal phalanx of hallux |
|
Short upper lip |
|
Broad secondary alveolar ridge |
|
Abnormal parietal bone morphology |
|
Absent sternal ossification |
|
Aplasia/hypoplasia of the 1st metatarsal |
|
Wide cranial sutures |
|
Abnormality of dental structure |
|
Congenital microcephaly |
|
Narrow nasal base |
|
Gingival recession |
|
Abnormal cell morphology |
|
Honeycomb lung |
|
Ground-glass opacification on pulmonary HRCT |
|
Reticular pattern on pulmonary HRCT |
|
Subpleural honeycombing |
|
Usual interstitial pneumonia |
|
Reduced forced vital capacity |
|
Orthodeoxia |
|
Abnormality of the pulmonary veins |
|
Progressive leukoencephalopathy |
|
Diffuse hepatic steatosis |
|
Skeletal muscle steatosis |
|
Sagittal craniosynostosis |
|
Plantar flexion contractures |
|
Cutaneous syndactyly of toes |
|
Arthralgia of the hip |
|
Abnormal hair laboratory examination |
|
Heterotaxy |
|
Failure of eruption of permanent teeth |
|
Soft tissue sarcoma |
|
Bifid distal phalanx of the thumb |
|
Premature posterior fontanelle closure |
|
Metopic suture patent to nasal root |
|
Lacrimal punctal atresia |
|
Hamartoma of the orbital region |
|
Cutaneous hamartoma |
|
Lipomas of upper eyelids |
|
Abnormality of cartilage of external ear |
|
Nonprogressive cerebellar ataxia |
|
Abnormality of the musculature of the limbs |
|
Right ventricular dilatation |
|
Intraalveolar phospholipid accumulation |
|
Abnormality of the upper respiratory tract |
|
Abnormal circulating protein level |
|
Crazy paving pattern on pulmonary HRCT |
|
Calvarial osteosclerosis |
|
Thin long bone diaphyses |
|
Thin clavicles |
|
Stenosis of the medullary cavity of the long bones |
|
Postnatal macrocephaly |
|
Abnormal circulating follicle-stimulating hormone level |
|
Cerebral berry aneurysm |
|
Abnormality of circle of Willis |
|
Myelitis |
|
Finger agnosia |
|
Limb apraxia |
|
Elevated plasma acylcarnitine levels |
|
Dicarboxylic aciduria |
|
Dysautonomia |
|
Foot osteomyelitis |
|
Acral ulceration |
|
Absent left hemidiaphragm |
|
Partial diaphragmatic absence of pericardium |
|
Abnormality of facial musculature |
|
Prominent calcaneus |
|
Wide nasal base |
|
Hypoplastic distal humeri |
|
Aplasia/Hypoplasia of the Epiglottis |
|
Severe receptive language delay |
|
Extraadrenal pheochromocytoma |
|
Adrenal pheochromocytoma |
|
Episodic paroxysmal anxiety |
|
Hypertensive retinopathy |
|
Hypertension associated with pheochromocytoma |
|
Paraganglioma of head and neck |
|
Elevated urinary norepinephrine |
|
Positive regitine blocking test |
|
Elevated urinary epinephrine |
|
Pulsatile tinnitus |
|
Elevated urinary dopamine |
|
Retinal capillary hemangioma |
|
Arachnoid hemangiomatosis |
|
Abnormality of the lower urinary tract |
|
Skin fissure |
|
Abnormality of small intestinal villus morphology |
|
Hypothalamic hamartoma |
|
Supernumerary metacarpal bones |
|
Bilateral postaxial polydactyly |
|
Polydactyly affecting the 3rd finger |
|
Polydactyly affecting the 4th finger |
|
3-4 finger cutaneous syndactyly |
|
Recurrent upper and lower respiratory tract infections |
|
Focal emotional seizure with laughing |
|
Auricular tag |
|
Distal arthrogryposis |
|
Scaphocephaly |
|
Short phalanx of hallux |
|
Mild postnatal growth retardation |
|
Pulmonary lymphangiectasia |
|
Hypoplasia of the nasal bone |
|
Aplasia/Hypoplasia of the nasal septum |
|
Sound sensitivity |
|
Abnormality of the ischium |
|
Abnormal spleen morphology |
|
Dysplastic corpus callosum |
|
Small intestinal dysmotility |
|
Atrophic muscularis propria |
|
Decreased number of large peripheral myelinated nerve fibers |
|
Decreased sensory nerve conduction velocity |
|
Abnormality of the extraocular muscles |
|
Intermittent generalized erythematous papular rash |
|
Recurrent corneal erosions |
|
Esophageal ulceration |
|
Bronchiolitis obliterans |
|
Entrapment neuropathy |
|
Enlarged interphalangeal joints |
|
Abnormality of the epiphysis of the distal phalanx of the thumb |
|
Obstruction of the superior vena cava |
|
Pancreatic lymphangiectasis |
|
Small posterior fossa |
|
Anteriorly placed odontoid process |
|
Distal peripheral sensory neuropathy |
|
Abnormality of the vestibulocochlear nerve |
|
Abnormality of the clivus |
|
Abnormality of the eleventh cranial nerve |
|
Functional abnormality of the inner ear |
|
Areflexia of upper limbs |
|
Abnormality of the musculature of the lower limbs |
|
Short umbilical cord |
|
Widely patent fontanelles and sutures |
|
Increased anterioposterior diameter of thorax |
|
Premature delivery because of cervical insufficiency or membrane fragility |
|
Epidermal hyperkeratosis |
|
Aplasia/Hypoplastia of the eccrine sweat glands |
|
Structural foot deformity |
|
Congenital adrenal hypoplasia |
|
Excessive skin wrinkling on dorsum of hands and fingers |
|
Premature rupture of membranes |
|
Abnormal isoelectric focusing of serum transferrin |
|
Multiple palmar creases |
|
Thick cerebral cortex |
|
Multiple plantar creases |
|
High nonceruloplasmin-bound serum copper |
|
Small, conical teeth |
|
Atrial septal dilatation |
|
Congenital septal defect |
|
2-3 toe cutaneous syndactyly |
|
Low 1-minute APGAR score |
|
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis |
|
Abnormal fundus fluorescein angiography |
|
Hemangioblastoma |
|
Cerebellar hemangioblastoma |
|
Cerebellar edema |
|
Spinal hemangioblastoma |
|
Neoplasm of the endocrine system |
|
Pancreatic islet cell adenoma |
|
Prominent scalp veins |
|
Irregular sclerotic endplates |
|
Wide nasal ridge |
|
Cervical vertebral dysplasia |
|
Wide penis |
|
Congenital malformation of the left heart |
|
Abnormal electrophysiology of sinoatrial node origin |
|
Abnormality of polysaccharide metabolism |
|
Short digit |
|
Decreased 3-hydroxyacyl-CoA dehydrogenase level |
|
Hypoglycemic encephalopathy |
|
Abnormality of acetylcarnitine metabolism |
|
Psychomotor retardation |
|
Microphakia |
|
Monorchism |
|
Perineal fistula |
|
Absent crus of helix |
|
Rectal atresia |
|
Broad fingertip |
|
Triangular nasal tip |
|
Narrow foot |
|
Abnormal anatomic location of the heart |
|
Congenital bullous ichthyosiform erythroderma |
|
Gingival cleft |
|
Single naris |
|
Periostitis |
|
Exencephaly |
|
Limited knee extension |
|
Aplasia/Hypoplasia of the quadriceps |
|
Maternal teratogenic exposure |
|
Hypoplastic nasal septum |
|
Aplasia/Hypoplasia of the maxilla |
|
Aplasia/hypoplasia involving bones of the lower limbs |
|
Aplasia/hypoplasia involving bones of the upper limbs |
|
Sudden episodic apnea |
|
Scrotal pain |
|
Vulvodynia |
|
Paroxysmal rectal pain |
|
Neuralgia |
|
Vaginal foreign body sensation |
|
Abnormal nervous system electrophysiology |
|
Neoplasm of the genitourinary tract |
|
Genital neoplasm |
|
Partial vaginal septum |
|
Abnormality of the uterine cervix |
|
Hydrocolpos |
|
Agenesis of maxillary central incisor |
|
Broad uvula |
|
Abnormality of the scalp hair |
|
Oromotor apraxia |
|
Recurrent ear infections |
|
Nephrotic range proteinuria |
|
Prominence of the zygomatic bone |
|
Increased erythrocyte protoporphyrin concentration |
|
Sideroblastic anemia |
|
Pappenheimer bodies |
|
Increased bone marrow iron |
|
Neoplasm of the respiratory system |
|
Total anosmia |
|
Partial anosmia |
|
Anomalous origin of left coronary artery from the pulmonary artery |
|
Right aortic arch |
|
Peritoneal abscess |
|
Dysplastic aortic valve |
|
Increased QRS voltage |
|
Abnormal pulse pressure |
|
Thoracic aortic aneurysm |
|
Deposits immunoreactive to beta-amyloid protein |
|
Semantic dementia |
|
Skeletal muscle fibrosis |
|
Percussion myotonia |
|
Spinal myoclonus |
|
Limb myoclonus |
|
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
|
EMG: repetitive nerve stimulation abnormality |
|
Calcium channel antibody positivity |
|
Anti-P/Q-type VGCC antibody positivity |
|
Ubiquitin-positive cerebral inclusion bodies |
|
Abnormal motor neuron morphology |
|
Short fourth metatarsal |
|
Aplasia/Hypoplasia of the tragus |
|
Clinodactyly of the 4th toe |
|
Clinodactyly of hallux |
|
Clinodactyly of the 2nd finger |
|
Abnormal atrioventricular connection |
|
Jejunoileal ulceration |
|
Recurrent abscess formation |
|
Abnormality of the ductus choledochus |
|
Congenital pulmonary airway malformation |
|
Hepatocellular adenoma |
|
Absent axillary hair |
|
Abnormal size of the palpebral fissures |
|
Multiple bladder diverticula |
|
Hemeralopia |
|
Microgastria |
|
Loss of facial expression |
|
Diffuse spongiform leukoencephalopathy |
|
Progressive forgetfulness |
|
Progressive extrapyramidal muscular rigidity |
|
EEG with persistent abnormal rhythmic activity |
|
Spastic hemiparesis |
|
Akinetic mutism |
|
Poor visual behavior for age |
|
Delusions |
|
Vestibular nystagmus |
|
Amyloidosis of peripheral nerves |
|
Gastrointestinal obstruction |
|
Abnormal head movements |
|
Enlarged naris |
|
Difficulty running |
|
Restrictive deficit on pulmonary function testing |
|
Reduced vital capacity |
|
Necrotizing myopathy |
|
Internally nucleated skeletal muscle fibers |
|
Muscle fiber hypertrophy |
|
Abnormal elasticity of skin |
|
Visual fixation instability |
|
Reduced muscle fiber alpha dystroglycan |
|
Reduced muscle fiber merosin |
|
Reduced systolic function |
|
Congenital, generalized hypertrichosis |
|
Hyperextensibility at elbow |
|
Congenital foot contraction deformities |
|
Hyporeflexia of upper limbs |
|
Recurrent patellar dislocation |
|
Abnormality of the palpebral fissures |
|
Parkinsonism with favorable response to dopaminergic medication |
|
Upgaze palsy |
|
Saccadic smooth pursuit |
|
Multiple prenatal fractures |
|
Abnormality of the diaphragm |
|
Fatigable weakness of distal limb muscles |
|
Nocturnal hypoventilation |
|
Intermittent episodes of respiratory insufficiency due to muscle weakness |
|
Hypometric saccades |
|
Weakness due to upper motor neuron dysfunction |
|
T2 hypointense basal ganglia |
|
Palmomental reflex |
|
Upper limb postural tremor |
|
Vocal tremor |
|
Micronodular cirrhosis |
|
Abnormal blood inorganic cation concentration |
|
Copper accumulation in liver |
|
Lingual dystonia |
|
Abnormal motor evoked potentials |
|
Gaze-evoked nystagmus |
|
Head tremor |
|
Corpus callosum atrophy |
|
Parietal cortical atrophy |
|
Monotonic speech |
|
Dilation of lateral ventricles |
|
Dilated third ventricle |
|
Scissor gait |
|
Substantia nigra gliosis |
|
Abnormality of carboxylic acid metabolism |
|
Pelvic girdle amyotrophy |
|
Scapular muscle atrophy |
|
Limb-girdle muscle atrophy |
|
Thigh hypertrophy |
|
Triceps weakness |
|
Midnasal stenosis |
|
Impaired vibration sensation at ankles |
|
Peripheral dysmyelination |
|
Acute demyelinating polyneuropathy |
|
Frontalis muscle weakness |
|
Apneic episodes precipitated by illness, fatigue, stress |
|
Episodic respiratory distress |
|
Nasal regurgitation |
|
Narrow jaw |
|
Respiratory arrest |
|
Staring gaze |
|
Peroneal muscle atrophy |
|
Ankle weakness |
|
Cardiomyocyte mitochondrial proliferation |
|
Exercise-induced rhabdomyolysis |
|
Corticospinal tract atrophy |
|
Neonatal inspiratory stridor |
|
Paradoxical myotonia |
|
Facial muscle hypertrophy |
|
Myotonia of the face |
|
Myotonia of the jaw |
|
Myotonia of the upper limb |
|
Cold-sensitive myotonia |
|
Abnormality of potassium homeostasis |
|
Decreased number of small peripheral myelinated nerve fibers |
|
Frog-leg posture |
|
Exophoria |
|
Facial tics |
|
Abnormal morphology of the cerebellar cortex |
|
Facial myokymia |
|
Impaired distal tactile sensation |
|
Eyelid myokymia |
|
Reduced brain N-acetyl aspartate level by MRS |
|
Abnormal delivery |
|
Abnormality of the paranasal sinuses |
|
Dense calvaria |
|
Advanced pneumatization of cranial sinuses |
|
Rhizomelic leg shortening |
|
EEG with generalized epileptiform discharges |
|
Kinetic tremor |
|
Upper limb spasticity |
|
Retinal flecks |
|
Yellow/white lesions of the retina |
|
Deep cerebral white matter hyperdensities |
|
Knee pain |
|
Abnormal motor nerve conduction velocity |
|
Enlarged interhemispheric fissure |
|
Abnormality of ocular smooth pursuit |
|
Dysmetric saccades |
|
Overbite |
|
Abnormality of somatosensory evoked potentials |
|
Impaired tactile sensation |
|
Tremor by anatomical site |
|
Impaired distal vibration sensation |
|
Titubation |
|
Decreased activity of the pyruvate dehydrogenase complex |
|
Loss of ability to walk in early childhood |
|
Upper limb hypertonia |
|
High myoinositol in brain by MRS |
|
Impaired vibration sensation in the lower limbs |
|
Abnormal posturing |
|
Simultanapraxia |
|
Temporal optic disc pallor |
|
Hemifacial atrophy |
|
Abnormality of the musculature of the upper limbs |
|
Decreased miniature endplate potentials |
|
Decreased size of nerve terminals |
|
Weakness of the intrinsic hand muscles |
|
Fatigable weakness of neck muscles |
|
Abnormality of masticatory muscle |
|
Abnormal circulating phytanic acid concentration |
|
EMG: myotonic runs |
|
Abnormal synaptic transmission at the neuromuscular junction |
|
Prolonged miniature endplate currents |
|
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors |
|
Limited extraocular movements |
|
EMG: axonal abnormality |
|
Pelvic girdle muscle atrophy |
|
Tibialis atrophy |
|
Sternocleidomastoid amyotrophy |
|
Abnormal peripheral nervous system synaptic transmission |
|
Favorable response of weakness to acetylcholine esterase inhibitors |
|
Increased jitter at single fibre EMG |
|
Generalized weakness of limb muscles |
|
Cytochrome C oxidase-negative muscle fibers |
|
Focal white matter lesions |
|
Stooped posture |
|
Periventricular white matter hyperdensities |
|
Onion bulb formation |
|
Hyperactive patellar reflex |
|
Abnormal visual fixation |
|
Hypermetric saccades |
|
Truncal titubation |
|
Abnormal sensory nerve conduction velocity |
|
Axonal degeneration |
|
Abolished vibration sense |
|
Hyperreflexia in upper limbs |
|
Impaired continence |
|
Frontal release signs |
|
Iron accumulation in substantia nigra |
|
Abnormality of ocular abduction |
|
Downbeat nystagmus |
|
Isometric tremor |
|
Basal lamina 'onion bulb' formation |
|
Central Y-shaped metacarpal |
|
Midline notch of upper alveolar ridge |
|
Paroxysmal dystonia |
|
Striatal T2 hyperintensity |
|
Violent behavior |
|
Difficulty in tongue movements |
|
Eyelid apraxia |
|
Diminished movement |
|
Fixed facial expression |
|
Abnormal CSF protein level |
|
Abnormality of the substantia nigra |
|
CSF lymphocytic pleiocytosis |
|
Hypermyelinated retinal nerve fibers |
|
Abnormality of the cerebellar peduncle |
|
Elevated brain choline level by MRS |
|
Increased reactive oxygen species production |
|
Impairment in personality functioning |
|
Sunken cheeks |
|
Visual agnosia |
|
Anomia |
|
Abnormal test result |
|
Hypometric horizontal saccades |
|
Intermittent microsaccadic pursuits |
|
Hyperechogenic kidneys |
|
Elongated superior cerebellar peduncle |
|
Renal cortical cysts |
|
Proximal femoral metaphyseal irregularity |
|
Small cervical vertebral bodies |
|
Twelfth rib hypoplasia |
|
Aplasia/Hypoplasia involving bones of the thorax |
|
Early ossification of capital femoral epiphyses |
|
Abnormality of the 5th metacarpal |
|
Subretinal deposits |
|
Open operculum |
|
Limitation of neck motion |
|
Prolonged somatosensory evoked potentials |
|
Focal hemifacial clonic seizure |
|
EEG with parietal sharp waves |
|
EEG with parietal focal spike waves |
|
Degeneration of the lateral corticospinal tracts |
|
Abnormal lower-limb motor evoked potentials |
|
Progressive pes cavus |
|
First dorsal interossei muscle weakness |
|
First dorsal interossei muscle atrophy |
|
Thenar muscle weakness |
|
Amyotrophy of ankle musculature |
|
Craniofacial disproportion |
|
Mixed demyelinating and axonal polyneuropathy |
|
Abnormal mitochondrial shape |
|
Reduced sperm motility |
|
Sperm head anomaly |
|
Herniation of intervertebral nuclei |
|
Cervical spondylosis |
|
EEG with spike-wave complexes (>3.5 Hz) |
|
Stiff hip |
|
Demyelinating motor neuropathy |
|
Demyelinating sensory neuropathy |
|
Claustrophobia |
|
Separation insecurity |
|
Mania |
|
Loss of Purkinje cells in the cerebellar vermis |
|
Olfactory auras |
|
Cluster headache |
|
Erratic myoclonus |
|
Limitation of movement at ankles |
|
Decreased CSF homovanillic acid concentration |
|
Transient hyperphenylalaninemia |
|
Paresis of extensor muscles of the big toe |
|
Pendular nystagmus |
|
Limited knee flexion/extension |
|
Reduced maximal inspiratory pressure |
|
Morphological abnormality of the pyramidal tract |
|
Large knee |
|
Abnormal astrocyte morphology |
|
Talipes cavus equinovarus |
|
Focal T2 hypointense basal ganglia lesion |
|
Mesiodens |
|
Hypoplastic hippocampus |
|
Short ear |
|
Impaired horizontal smooth pursuit |
|
Tortuosity of conjunctival vessels |
|
Dorsal column degeneration |
|
Hyperlysinemia |
|
Decreased activity of NADPH oxidase |
|
Stress/infection-induced lactic acidosis |
|
Abnormal circulating carnitine concentration |
|
Morphological abnormality of the corticospinal tract |
|
Dysgenesis of the hippocampus |
|
Abnormality of the distal phalanx of the thumb |
|
Vegetative state |
|
Focal sensory seizure |
|
Neuronal loss in basal ganglia |
|
Bradyopsia |
|
Orthostatic syncope |
|
Female anorgasmia |
|
Stuttering |
|
Absent smooth pursuit |
|
Abnormal flash visual evoked potentials |
|
Abnormality of the spinocerebellar tracts |
|
Olivopontocerebellar hypoplasia |
|
Spinal cord posterior columns myelin loss |
|
Dyssynergia |
|
Progressive conductive hearing impairment |
|
Patent ductus arteriosus after birth at term |
|
Hemihypotrophy of lower limb |
|
Pineal cyst |
|
Hyperextensibility of the finger joints |
|
Facial hypertrichosis |
|
Hypermobility of interphalangeal joints |
|
Frontal hirsutism |
|
Hypoplastic nasal tip |
|
Calcaneovalgus deformity |
|
Primary congenital glaucoma |
|
Abnormality of the palmar creases |
|
Vertebrobasilar dolichoectasia |
|
Commissural lip pit |
|
Imperforate hymen |
|
Agenesis of maxillary incisor |
|
Basal ganglia gliosis |
|
Atrophy/Degeneration involving the caudate nucleus |
|
Horizontal pendular nystagmus |
|
Basal ganglia cysts |
|
Undetectable light- and dark-adapted electroretinogram |
|
Obtundation status |
|
Nasogastric tube feeding |
|
Absent brainstem auditory responses |
|
Subcortical white matter calcifications |
|
Reduced arm span |
|
Distal tapering femur |
|
Vertebral hypoplasia |
|
Absent humerus |
|
Epiphyseal stippling of the humerus |
|
Abnormal cervical curvature |
|
Club-shaped distal femur |
|
Hypoplastic sweat glands |
|
Abnormality of dermal melanosomes |
|
Orthokeratotic hyperkeratosis |
|
Localized hypoplasia of dental enamel |
|
4-layered lissencephaly |
|
Perisylvian polymicrogyria |
|
Abnormal glossopharyngeal nerve morphology |
|
Aplasia/Hypoplasia of the brainstem |
|
Aplasia/Hypoplasia of the cerebral white matter |
|
Ulnar deviation of the hand or of fingers of the hand |
|
Broad phalanx |
|
Dumbbell-shaped femur |
|
Laryngeal cartilage malformation |
|
Excessive femoral anteversion |
|
Facial midline hemangioma |
|
Bilateral cleft palate |
|
Abnormality of the mastoid |
|
Enamel hypomineralization |
|
Obliteration of the calvarial diploe |
|
Periapical tooth abscess |
|
Agenesis of incisor |
|
Giant somatosensory evoked potentials |
|
Infantile sensorineural hearing impairment |
|
Appendicular hypotonia |
|
Lacrimal gland hypoplasia |
|
Hyposerinemia |
|
Abnormality of copper homeostasis |
|
Choroid hemorrhage |
|
Abnormal putamen morphology |
|
Conjunctival icterus |
|
Visual gaze preference |
|
Diffuse demyelination of the cerebral white matter |
|
Multifocal seizures |
|
Hyperkinetic seizures |
|
Penile hypospadias |
|
Triangular shaped distal phalanges of the hand |
|
Hepatic hemangioma |
|
Severe photosensitivity |
|
Focal sensory seizure with visual features |
|
Calf muscle hypoplasia |
|
Cerebral cortex with spongiform changes |
|
Superficial dermal perivascular inflammatory infiltrate |
|
Cleft vertebral arch |
|
Biliary hyperplasia |
|
Contracture of the distal interphalangeal joint of the fingers |
|
Hypoglycinemia |
|
Brain very small |
|
Generalized ichthyosis |
|
Abnormality of methionine metabolism |
|
Abnormality of homocysteine metabolism |
|
Reduced factor VII activity |
|
Elevated coagulation factor V activity |
|
Hypermethioninemia |
|
Congenital thrombocytopenia |
|
Presenile cataracts |
|
Neutrophil inclusion bodies |
|
Increased mean platelet volume |
|
Asymmetry of the ears |
|
Giant hypertrophic gastritis |
|
Helicobacter pylori infection |
|
Multiple gastric polyps |
|
Patellar subluxation |
|
Abnormal number of incisors |
|
Congenital laryngeal stridor |
|
Increased serum iduronate sulfatase activity |
|
Morning glory anomaly |
|
Moderately reduced visual acuity |
|
Placental abruption |
|
Abnormality of citrulline metabolism |
|
Hyperornithinemia |
|
Angiosarcoma |
|
Lymph node hypoplasia |
|
Cobblestone-like hyperkeratosis |
|
Finger swelling |
|
Pruritis on hand |
|
Discoid lupus rash |
|
Chronic myelomonocytic leukemia |
|
Anhidrotic ectodermal dysplasia |
|
Frontal upsweep of hair |
|
Malrotation of colon |
|
Limited elbow extension and supination |
|
Facial wrinkling |
|
Decreased hemoglobin concentration |
|
Abnormal speech prosody |
|
Multiple glomerular cysts |
|
Lacticaciduria |
|
Profound hearing impairment |
|
Small fontanelle |
|
Focal EEG discharges with secondary generalization |
|
Ethylmalonic aciduria |
|
Progressive truncal ataxia |
|
EEG with focal epileptiform discharges |
|
Secretory IgA deficiency |
|
Hyperextensible hand joints |
|
Progressive ventriculomegaly |
|
Broad lateral eyebrow |
|
Bilateral renal dysplasia |
|
Unilateral lung agenesis |
|
Cerebellar hemisphere hypoplasia |
|
Abnormal common carotid artery morphology |
|
Prolonged bleeding following circumcision |
|
Impaired ristocetin-induced platelet aggregation |
|
Impaired ADP-induced platelet aggregation |
|
Impaired epinephrine-induced platelet aggregation |
|
Impaired arachidonic acid-induced platelet aggregation |
|
Impaired thrombin-induced platelet aggregation |
|
Impaired thromboxane A2 agonist-induced platelet aggregation |
|
Impaired collagen-related peptide-induced platelet aggregation |
|
Decreased platelet glycoprotein Ib-IX-V |
|
Partially duplicated kidney |
|
Hemifacial hypoplasia |
|
Infancy onset short-trunk short stature |
|
Abnormality of cricoid cartilage |
|
Complete atrioventricular canal defect |
|
Cleft maxillary alveolar ridge |
|
Pancreatic squamous cell carcinoma |
|
Cold-induced hand cramps |
|
Smooth muscle antibody positivity |
|
Antineutrophil antibody positivity |
|
Anti-liver cytosolic antigen type 1 antibody positivity |
|
Rosette |
|
Anti-asialoglycoprotein receptor antibody positivity |
|
Sclerosing cholangitis |
|
Hyperhistidinemia |
|
Abnormal lymphocyte count |
|
Recurrent enteroviral infections |
|
Decreased proportion of memory B cells |
|
Recurrent gastroenteritis |
|
Abnormal natural killer cell count |
|
Subependymal cysts |
|
Decreased activity of mitochondrial complex III |
|
Gastrojejunal tube feeding in infancy |
|
Glutaric acidemia |
|
Normochromic microcytic anemia |
|
Muscular ventricular septal defect |
|
Repetitive compulsive behavior |
|
Diaphragmatic eventration |
|
Severe lactic acidosis |
|
Ventilator dependence with inability to wean |
|
Acute infectious pneumonia |
|
Increased number of elastic fibers in the dermis |
|
Abnormal cutaneous collagen fibril morphology |
|
Perifolliculitis |
|
Knee osteoarthritis |
|
Abnormality of bladder morphology |
|
Peripheral primitive neuroectodermal neoplasm |
|
Elevated carcinoma antigen 125 level |
|
Pelvic mass |
|
Abnormality of the superior cerebellar peduncle |
|
Neoplasm of the scrotum |
|
Limb joint contracture |
|
Aplasia/Hypoplasia of the external ear |
|
Broad face |
|
Choriocapillaris atrophy |
|
1-5 finger complete cutaneous syndactyly |
|
Increased circulating thyroxine level |
|
Puberty and gonadal disorders |
|
Increased fetal movement |
|
Pretibial myxedema |
|
Increased laxity of ankles |
|
Inability to walk by childhood/adolescence |
|
Exercise-induced muscle cramps |
|
Percussion-induced rapid rolling muscle contractions |
|
Exercise-induced leg cramps |
|
Short third metatarsal |
|
Axial muscle atrophy |
|
Bilateral facial palsy |
|
Absent pubic hair |
|
Tetraplegia/tetraparesis |
|
Exercise-induced myoglobinuria |
|
Ependymoma |
|
Supratentorial neoplasm |
|
Short nasal bridge |
|
Widely patent coronal suture |
|
Abnormality of the supraorbital ridges |
|
Abnormal conus terminalis morphology |
|
Thin metacarpal cortices |
|
Thin metatarsal cortices |
|
Lumbar hemivertebrae |
|
Loss of truncal subcutaneous adipose tissue |
|
Ureteral agenesis |
|
Posterolateral diaphragmatic hernia |
|
Hypoplastic helices |
|
Prominent antitragus |
|
1-2 finger syndactyly |
|
Aplasia/Hypoplasia of metatarsal bones |
|
Broad femoral metaphyses |
|
Y-shaped metacarpals |
|
Agenesis of central incisor |
|
Broad first metatarsal |
|
Complete duplication of hallux phalanx |
|
Hypoplasia of the epiglottis |
|
Polysyndactyly of hallux |
|
Peg-shaped maxillary lateral incisors |
|
Central retinal vessel vascular tortuosity |
|
Unilateral alveolar cleft of maxilla |
|
Angle closure glaucoma |
|
Exudative vitreoretinopathy |
|
Abnormal lower limb bone morphology |
|
Visual acuity light perception with projection |
|
Postaxial polysyndactyly of foot |
|
Ectopic accessory finger-like appendage |
|
Absent cupid's bow |
|
Agenesis of canine |
|
Delayed ossification of carpal bones |
|
Dysharmonic bone age |
|
4-5 toe syndactyly |
|
Lumbar kyphosis in infancy |
|
Flexion contracture of digit |
|
Decreased anterioposterior diameter of lumbar vertebral bodies |
|
Asymmetric limb muscle stiffness |
|
Transient hypogammaglobulinemia of infancy |
|
Impaired neutrophil chemotaxis |
|
Rotary nystagmus |
|
Abnormal T cell morphology |
|
Infantile encephalopathy |
|
Abnormality of the hairline |
|
Fetal fifth finger clinodactyly |
|
Stiff elbow |
|
Absent thumbnail |
|
Absent fifth fingernail |
|
Malalignment of the great toenail |
|
Small cerebellar cortex |
|
Lumbar scoliosis |
|
Abnormality of placental membranes |
|
Abnormality of toe |
|
Aplasia/Hypoplasia of the phalanges of the 2nd toe |
|
Macrodontia of permanent maxillary central incisor |
|
Congenital ptosis |
|
Decreased mitochondrial number |
|
Duodenal polyposis |
|
Congenital hypertrophy of retinal pigment epithelium |
|
Osteoma |
|
Ampulla of Vater carcinoma |
|
Imperfect vocal cord adduction |
|
Bowing of the vocal cords |
|
Abnormal morphology of musculature of pharynx |
|
Abnormal muscle fiber protein expression |
|
Esophoria |
|
Hyperreflexia proximally |
|
Precocious puberty in males |
|
Spinal muscular atrophy |
|
Spinocerebellar atrophy |
|
Duodenal adenocarcinoma |
|
Rectal polyposis |
|
Gastric diverticulum |
|
Neoplasm of the large intestine |
|
Bladder carcinoma |
|
Germ cell neoplasia |
|
Acephalic spermatozoa |
|
Sperm mid-piece anomaly |
|
Posterior polar cataract |
|
Hyperplastic colonic polyposis |
|
Juvenile colonic polyposis |
|
Intussusception |
|
Abnormality of odontoid tissue |
|
Non-Hodgkin lymphoma |
|
Seborrheic keratosis |
|
Juvenile gastrointestinal polyposis |
|
Toe extensor amyotrophy |
|
Weakness of orbicularis oculi muscle |
|
Abnormal muscle fiber myotilin |
|
Loss of ability to walk in first decade |
|
Abnormality of globe size |
|
Muscle abnormality related to mitochondrial dysfunction |
|
Noncompaction cardiomyopathy |
|
Skeletal myopathy |
|
Accumulation of muscle fiber desmin |
|
Posterior capsular cataract |
|
Atrophy/Degeneration involving the spinal cord |
|
Decreased patellar reflex |
|
Equinus calcaneus |
|
Mitochondrial swelling |
|
Absent muscle fiber dysferlin |
|
Finger flexor weakness |
|
Delayed ability to sit |
|
Congenital fibrosis of extraocular muscles |
|
Normal pressure hydrocephalus |
|
Large basal ganglia |
|
Agenesis of the anterior commissure |
|
Abnormal best corrected visual acuity test |
|
Grasp reflex |
|
Prominent superior crus of antihelix |
|
Small forehead |
|
Fair hair |
|
Deep longitudinal plantar crease |
|
Abnormal renal collecting system morphology |
|
Proportionate shortening of all digits |
|
Hyperpigmented/hypopigmented macules |
|
Hypertrophy of the urinary bladder |
|
Unilateral renal dysplasia |
|
Thin lower lip vermilion |
|
Prominent tragus |
|
Rectovestibular fistula |
|
Chronic irritative conjunctivitis |
|
EEG with multifocal slow activity |
|
Widely-spaced maxillary central incisors |
|
Viral infection-induced rhabdomyolysis |
|
Recurrent myoglobinuria |
|
EEG with occipital focal spike waves |
|
Low APGAR score |
|
Abnormality of glycine metabolism |
|
Abnormality of threonine metabolism |
|
Abnormality of arginine metabolism |
|
Abnormality of tryptophan metabolism |
|
Sciatica |
|
Increased CSF/serum albumin ratio |
|
Vascular tortuosity |
|
Edema of the upper limbs |
|
Trophic changes related to pain |
|
Abnormality of hair growth |
|
Congenital conductive hearing impairment |
|
Basal encephalocele |
|
Aplasia/Hypoplasia involving bones of the skull |
|
Aplasia/Hypoplasia involving the shoulder musculature |
|
Asymmetry of the nares |
|
Unilateral hypoplasia of pectoralis major muscle |
|
Vertical orbital dystopia |
|
Pectoral muscle hypoplasia/aplasia |
|
Hypoplasia of the frontal bone |
|
Aplasia/Hypoplasia of the frontal sinuses |
|
EMG: slow motor conduction |
|
Sensorimotor polyneuropathy affecting arms more than legs |
|
Absent/hypoplastic paranasal sinuses |
|
Recurrent subcortical infarcts |
|
Progressive language deterioration |
|
Social and occupational deterioration |
|
Sleepy facial expression |
|
Chronic axonal neuropathy |
|
Increased circulating beta-2-microglobulin level |
|
Abnormality of the dorsal column of the spinal cord |
|
Neck muscle hypertrophy |
|
Limb tremor |
|
Chronic sensorineural polyneuropathy |
|
Delayed peripheral myelination |
|
Decreased activity of mitochondrial complex II |
|
Decreased Achilles reflex |
|
Facial-lingual fasciculations |
|
Cleft helix |
|
Abnormality of the crus of the helix |
|
Question mark ear |
|
Mandibular condyle aplasia |
|
Vein of Galen aneurysmal malformation |
|
Clinodactyly of the 3rd toe |
|
Abnormal urinary acylglycine profile |
|
Elevated urinary 3-hydroxybutyric acid |
|
Chronic lactic acidosis |
|
Nonprogressive encephalopathy |
|
Abnormal atrioventricular valve morphology |
|
Abnormality of muscle size |
|
Talipes valgus |
|
Infantile constant exotropia |
|
Synostosis involving the 1st metacarpal |
|
Curved fingers |
|
Hyperextensible thumb |
|
5-minute APGAR score of 5 |
|
1-minute APGAR score of 1 |
|
Abnormal thyroid hormone level |
|
Cyst of the ductus choledochus |
|
Abnormality of the periodontium |
|
Blind vagina |
|
Abnormality of pattern visual evoked potentials |
|
Increased intracellular sodium |
|
Spontaneous hemolytic crises |
|
Intracerebral periventricular calcifications |
|
Decreased thalamic volume |
|
Abnormal sacral segmentation |
|
EEG with focal spikes |
|
Dysmyelinating leukodystrophy |
|
Impaired pursuit initiation and maintenance |
|
Asterixis |
|
Broad skull |
|
Uncontrolled eye movements |
|
Undetectable visual evoked potentials |
|
Lumbar hypertrichosis |
|
Lower extremity joint dislocation |
|
EEG with focal sharp waves |
|
Continuous spike and waves during slow sleep |
|
5-minute APGAR score of 1 |
|
1-minute APGAR score of 0 |
|
Uric acid nephrolithiasis |
|
Progressive congenital scoliosis |
|
Subsarcolemmal accumulations of abnormally shaped mitochondria |
|
Elevated CSF neopterin level |
|
Profound static encephalopathy |
|
Hyperopic astigmatism |
|
Recurrent hand flapping |
|
Decreased galactosylation of N-linked protein glycosylation |
|
Elevated brain N-acetyl aspartate level by MRS |
|
Aplasia/hypoplasia involving bones of the extremities |
|
Transient nephrotic syndrome |
|
Decreased plasma total carnitine |
|
Brachial plexus neuropathy |
|
Abnormality of the hip joint |
|
Groin pain |
|
Synovial hypertrophy |
|
Polyarticular arthropathy |
|
Localized osteoporosis |
|
Abnormal position of hair whorl |
|
Unerupted tooth |
|
Partial absence of thumb |
|
Unilateral radial aplasia |
|
Slanting of the palpebral fissure |
|
Decreased CSF 5-hydroxyindolacetic acid concentration |
|
Decreased CSF protein |
|
Decreased CSF albumin |
|
Decreased CSF biopterin level |
|
Decreased resting energy expenditure |
|
Astasia |
|
Fatigable weakness of speech muscles |
|
Suck reflex |
|
Tarsal sclerosis |
|
Impaired oral bolus formation |
|
Sclerosis of finger phalanx |
|
Torsade de pointes |
|
Abnormal cardiac exercise stress test |
|
Prominent antihelix |
|
Abnormality of the duodenum |
|
Athetoid cerebral palsy |
|
Widely spaced toes |
|
Supraventricular tachycardia with an accessory connection mediated pathway |
|
Juvenile nasopharyngeal angiofibroma |
|
Incisor macrodontia |
|
Limited elbow flexion/extension |
|
Receptive language delay |
|
Generalized clonic seizures |
|
Uni- and bilateral multifocal epileptiform discharges |
|
Broad phalanx of the toes |
|
Vitreous haze |
|
Vitreous snowballs |
|
Acute hyperammonemia |
|
Sleep terror |
|
Abnormality of circulating cortisol level |
|
Abnormal urine sodium concentration |
|
Renal sodium wasting |
|
Ventral hernia |
|
Lactose intolerance |
|
Atrial situs ambiguous |
|
Supracardiac total anomalous pulmonary venous connection |
|
Single ventricle |
|
Cardiac total anomalous pulmonary venous connection |
|
Infracardiac total anomalous pulmonary venous connection |
|
Mixed total anomalous pulmonary venous connection |
|
Low 5-minute APGAR score |
|
Dysfunctional alternative complement pathway |
|
Anuria |
|
Schistocytosis |
|
Acute colitis |
|
Colonic stenosis |
|
Neuroectodermal neoplasm |
|
Abnormal circulating gonadotropin level |
|
Abnormal onset of bleeding |
|
Disturbance of facial expression |
|
Abnormality of the nasal septum |
|
Intercostal retractions |
|
Sandwich appearance of vertebral bodies |
|
Cortical sclerosis |
|
Optic atrophy from cranial nerve compression |
|
Palate fistula |
|
Agenesis of lateral incisor |
|
Abnormal anterior eye segment morphology |
|
Exudative retinal detachment |
|
Superficial episcleral hyperemia |
|
Scleral thickening |
|
Subretinal fluid |
|
Retinal fold |
|
Abnormal intraocular pressure |
|
Aplasia/Hypoplasia of the bladder |
|
Supernumerary maxillary incisor |
|
Low self esteem |
|
Abnormality of the Eustachian tube |
|
Abnormal fifth cranial nerve morphology |
|
Abnormality of upper limb joint |
|
Elbow pain |
|
Irregular articular surfaces of the elbow joints |
|
Large elbow |
|
Mesenteric venous thrombosis |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes |
|
Right-to-left shunt |
|
Aortopulmonary window |
|
Hepatojugular reflux |
|
Limitation of knee mobility |
|
Anomalous origin of left pulmonary artery from ascending aorta |
|
5-minute APGAR score of 3 |
|
Preductal coarctation of the aorta |
|
Ascending aorta hypoplasia |
|
Hepatic periportal necrosis |
|
Abnormality of adrenal morphology |
|
Abnormality of thyroid morphology |
|
Hepatic bridging fibrosis |
|
Vitamin C deficiency |
|
Abnormal nasal mucus secretion |
|
Mandibulofacial dysostosis |
|
Proximal femoral focal deficiency |
|
Impairment of activities of daily living |
|
Disproportionate prominence of the femoral medial condyle |
|
Abnormal morphology of bones of the lower limbs |
|
Knee joint hypermobility |
|
Hypoplastic acetabulae |
|
Thoracoabdominal wall defect |
|
Absence of stomach bubble on fetal sonography |
|
Soft tissue neoplasm |
|
Reduced C-peptide level |
|
Toe dactylitis |
|
Oligoarthritis |
|
Generalized morning stiffness |
|
Psoriasiform lesion |
|
Sacroiliac arthritis |
|
Abnormality of the humeral diaphysis |
|
Proximal femoral metaphyseal abnormality |
|
Abnormality of the medullary cavity of the long bones |
|
Lytic defects of the radius |
|
Lattice corneal dystrophy |
|
Diffuse skin atrophy |
|
Erythroid hyperplasia |
|
Megaloblastic erythroid hyperplasia |
|
Dysplastic granulopoesis |
|
Abnormal number of granulocyte precursors |
|
Granulocytopenia |
|
Abnormal blood gas level |
|
Acute promyelocytic leukemia |
|
Elevated 8-dehydrocholesterol |
|
Elevated 8(9)-cholestenol |
|
Abnormality of the nasal bridge |
|
Asymmetry of the mouth |
|
Abnormal albumin level |
|
Multiple lineage myelodysplasia |
|
Single lineage myelodysplasia |
|
Abnormal mean corpuscular volume |
|
Abnormality of bone marrow stromal cells |
|
Bone marrow hypercellularity |
|
Megakaryocyte nucleus hypolobulation |
|
Increased micromegakaryocyte count |
|
Erythroid hypoplasia |
|
Abnormality of neutrophil morphology |
|
Glaucomatous visual field defect |
|
Increased cup-to-disc ratio |
|
Abnormality of the scaphoid |
|
Abnormality of the trapezium |
|
Deviation of the hand or of fingers of the hand |
|
Choriocarcinoma |
|
Trophoblastic tumor |
|
Antenatal intracerebral hemorrhage |
|
Abnormal dura mater morphology |
|
Thalamic edema |
|
Dysgenesis of the thalamus |
|
Atrophic pituitary gland |
|
Hyperautofluorescent macular lesion |
|
Full-thickness macular hole |
|
Foveal photoreceptor outer segment loss on macular OCT |
|
Drusen |
|
Perifoveal ring of hyperautofluorescence |
|
Central fundal arteriolar microaneurysms |
|
Subretinal exudate |
|
Paracentral scotoma |
|
Reduced FEV1/FVC ratio |
|
Cardiac shunt |
|
Recurrent thromboembolism |
|
Dysfibrinogenemia |
|
Abnormality of von Willebrand factor |
|
Hypocapnia |
|
Right atrial enlargement |
|
Increased factor VIII activity |
|
EEG with spike-wave complexes (2.5-3.5 Hz) |
|
Typical absence seizure |
|
Myoclonic absence |
|
Punding |
|
Retrograde ejaculation |
|
Left atrial enlargement |
|
Toxemia of pregnancy |
|
Irregular capital femoral epiphysis |
|
Broad femoral head |
|
Delayed proximal femoral epiphyseal ossification |
|
Prominent eyelashes |
|
Hippocampal atrophy |
|
Ulnar deviation of the hand |
|
Abnormal response to ACTH stimulation test |
|
Myelokathexis |
|
Abnormal light- and dark-adapted electroretinogram |
|
Lenticonus |
|
Abnormality of fundus pigmentation |
|
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells |
|
Decreased prealbumin level |
|
Insulin receptor antibody positivity |
|
Dependency on intravenous nutrition |
|
Deep dermal perivascular inflammatory infiltrate |
|
Renal tubular epithelial necrosis |
|
Decreased pulmonary function |
|
Productive cough |
|
Halitosis |
|
Glomerular subendothelial electron-dense deposits |
|
C3 nephritic factor positivity |
|
Patchy reduction of bone mineral density |
|
Cutaneous sclerotic plaque |
|
Lichenoid skin lesion |
|
Dupuytren contracture |
|
Reduced protein S activity |
|
Macular purpura |
|
Pyoderma gangrenosum |
|
Impaired lymphocyte transformation with phytohemagglutinin |
|
Decreased lymphocyte proliferation in response to mitogen |
|
Chronic oral candidiasis |
|
Absent natural killer cells |
|
Acute otitis media |
|
Partial IgA deficiency |
|
Partial atrioventricular canal defect |
|
Atrial arrhythmia |
|
Coronary sinus enlargement |
|
Prominent ear helix |
|
Asymptomatic hyperammonemia |
|
Acute monocytic leukemia |
|
Antepartum hemorrhage |
|
Hemoperitoneum |
|
Granulocytic hypoplasia |
|
Monocytosis |
|
Abnormal neutrophil count |
|
Increased red cell osmotic fragility |
|
Partial anomalous pulmonary venous return |
|
Descending aorta hypoplasia |
|
Hypoplasia of the diaphragm |
|
Left superior vena cava draining to coronary sinus |
|
Interrupted inferior vena cava with azygous continuation |
|
Argininuria |
|
Hyperlysinuria |
|
Abnormality of serine metabolism |
|
Ornithinuria |
|
Megakaryocytopenia |
|
Increased serum zinc |
|
Renal fibrosis |
|
Increased mean corpuscular hemoglobin concentration |
|
Hypersarcosinemia |
|
Hypersarcosinuria |
|
Peroneal muscle weakness |
|
Cystathioninuria |
|
Cystathioninemia |
|
Reduced prothrombin antigen |
|
Prolonged bleeding following procedure |
|
Excessive bleeding from superficial cuts |
|
Midfrontal capillary hemangioma |
|
Perineal hemangioma |
|
Visceral hemangioma |
|
Tufted angioma |
|
Chronic disseminated intravascular coagulation |
|
Abnormal lymphatic vessel morphology |
|
Hypopnea |
|
Polyneuritis |
|
Sick sinus syndrome |
|
Trifascicular block |
|
Deformed rib cage |
|
Rachitic rosary |
|
Enlargement of the costochondral junction |
|
Subperiosteal bone resorption |
|
Irregular, rachitic-like metaphyses |
|
Impaired cortisol response to insulin stimulation test |
|
Decreased circulating dehydroepiandrosterone level |
|
Body odor |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells |
|
Increased B cell count |
|
Abnormal lymphocyte apoptosis |
|
Increased circulating interleukin 10 concentration |
|
Specific anti-polysaccharide antibody deficiency |
|
Burkitt lymphoma |
|
Abnormal proportion of CD4 T cells |
|
Abnormal proportion of CD8 T cells |
|
Increased circulating interleukin 18 concentration |
|
Abnormality of the common coagulation pathway |
|
Hemangioma of the lip |
|
Reduced antithrombin antigen |
|
Recurrent spontaneous abortion |
|
Cerebral venous thrombosis |
|
Abnormal circulating insulin concentration |
|
Diffuse alveolar hemorrhage |
|
Alcoholism |
|
Hypermanganesemia |
|
Sinoatrial block |
|
Abnormal lymphocyte physiology |
|
Aciduria |
|
Elevated urine glycolate |
|
Calcinosis cutis |
|
Abnormality of the tongue muscle |
|
Myocardial eosinophilic infiltration |
|
Swelling of proximal interphalangeal joints |
|
Portal fibrosis |
|
Cholangitis |
|
Reye syndrome-like episodes |
|
Slender nose |
|
Thick corpus callosum |
|
Reduced factor XIII activity |
|
Umbilical cord hematoma |
|
Decreased activity of mitochondrial ATP synthase complex |
|
Infection associated neutropenia |
|
3-Methylglutaric aciduria |
|
Lipid accumulation in hepatocytes |
|
Prolonged QRS complex |
|
Histiocytoid cardiomyopathy |
|
Cardiac rhabdomyoma |
|
Decreased proportion of CD8-positive T cells |
|
Absence of CD8-positive T cells |
|
Reduced aldolase level |
|
Intermittent lactic acidemia |
|
Intermittent hyperventilation |
|
Increased urinary glycerol |
|
Reduced MHC II surface expression |
|
Recurrent protozoan infections |
|
Decreased circulating beta-2-microglobulin level |
|
Chronic hepatitis due to cryptosporidium infection |
|
Abnormal CD4:CD8 ratio |
|
Reduced proportion of naive T cells |
|
Reduced natural killer cell count |
|
Abnormally low T cell receptor excision circle level |
|
Decreased proportion of CD3-positive T cells |
|
Severe recurrent varicella |
|
Mitochondrial encephalopathy |
|
Primary hyperaldosteronism |
|
Prolonged PR interval |
|
ST segment depression |
|
Prominent U wave |
|
Low-to-normal blood pressure |
|
Renal potassium wasting |
|
Glucose intolerance |
|
Aplastic anemia |
|
Postlingual sensorineural hearing impairment |
|
EEG with temporal focal spikes |
|
Hypoplastic thumbnail |
|
Posterior fossa cyst |
|
Broad 2nd toe |
|
Deviation of the 5th toe |
|
Hepatic agenesis |
|
Defective DNA repair after ultraviolet radiation damage |
|
Paraplegia/paraparesis |
|
Impaired social reciprocity |
|
Tiger tail banding |
|
Hypoplasia of mandible relative to maxilla |
|
Split nail |
|
Reduced thyroxin-binding globulin |
|
Hyperplastic labia majora |
|
Impaired antigen-specific response |
|
Aplasia/Hypoplasia of the middle phalanx of the 3rd finger |
|
Congenital hypertrophy of left ventricle |
|
Late onset atopic dermatitis |
|
Bronchodysplasia |
|
Limited knee flexion |
|
Decreased finger mobility |
|
Progressive ptosis |
|
Concentric hypertrophic cardiomyopathy |
|
Hamartomatous stomach polyps |
|
Rectocele |
|
Extrahepatic portal hypertension |
|
Small intestinal polyposis |
|
Hyperpigmentation of the fundus |
|
Visual acuity no light perception |
|
Midclavicular hypoplasia |
|
Freckled genitalia |
|
Freezing of gait |
|
Palilalia |
|
Micrographia |
|
Tachylalia |
|
Color vision test abnormality |
|
Downgaze palsy |
|
Axial muscle stiffness |
|
Hyporeflective spaces on macular OCT |
|
Spastic paraparetic gait |
|
Detrusor sphincter dyssynergia |
|
Astereognosia |
|
Agraphesthesia |
|
Abnormal urinary electrolyte concentration |
|
Abnormal systemic arterial morphology |
|
Hydroxyprolinuria |
|
Hyperglycinuria |
|
Hydroxyprolinemia |
|
Abnormality of the anterior fontanelle |
|
Increased circulating procalcitonin concentration |
|
Acute disseminated intravascular coagulation |
|
Abnormal atrioventricular valve physiology |
|
Abnormality of the thoracic cavity |
|
Decreased movement range in interphalangeal joints |
|
Telangiectases of the cheeks |
|
Episodic pain |
|
Increased tear production |
|
Obliteration of the pulp chamber |
|
Abnormality of the dental root |
|
Odontodysplasia |
|
Generalized hypoplasia of dental enamel |
|
Short dental roots |
|
Abnormal heart rate variability |
|
Abnormal pulmonary thoracic imaging finding |
|
Meconium stained amniotic fluid |
|
Pneumomediastinum |
|
Abnormality of cerebral veins |
|
Peribronchovascular interstitial thickening |
|
Nodular pattern on pulmonary HRCT |
|
Reticulonodular pattern on pulmonary HRCT |
|
Interlobular septal thickening on pulmonary HRCT |
|
Parenchymal consolidation |
|
Reduced hematocrit |
|
Pulmonary venous hypertension |
|
Interstitial cardiac fibrosis |
|
Overgrowth of external genitalia |
|
Prominent nipples |
|
Recurrent infantile hypoglycemia |
|
Megarectum |
|
Trident hand |
|
Short proximal phalanx of finger |
|
Functional abnormality of the middle ear |
|
Hip joint hypermobility |
|
Narrow greater sciatic notch |
|
Hypomature dental enamel |
|
Abnormality of permanent molar morphology |
|
Abnormal jaw morphology |
|
Abnormal mucociliary clearance |
|
Severe infection |
|
Reversible renal failure |
|
Nasal flaring |
|
Invasive fungal infection |
|
Disseminated viral infection |
|
Abnormal Descemet membrane morphology |
|
Reduced number of corneal endothelial cells |
|
Very low visual acuity |
|
Increased corneal curvature |
|
Reduced brain glutamate level by MRS |
|
Prolonged brainstem auditory evoked potentials |
|
Decorticate rigidity |
|
Increased head circumference |
|
Decreased head circumference |
|
Abnormality of the medulla oblongata |
|
Opacification of the corneal epithelium |
|
Generalized opacification of the cornea |
|
Anti-Ro/SS-A antibody positivity |
|
Anti-salivary protein antibody positivity |
|
Anti-carbonic anhydrase VI antibody positivity |
|
Anti-parotid secretory protein antibody positivity |
|
Lymphoid interstitial pneumonia |
|
Vaginal dryness |
|
Abnormality of the peripheral nervous system |
|
Multiple mononeuropathy |
|
Chronic active hepatitis |
|
Depigmented fundus |
|
Abnormal morphology of the choroidal vasculature |
|
Actinic keratosis |
|
Epidural hemorrhage |
|
Subdural hemorrhage |
|
Atrophic, patchy alopecia |
|
Skin detachment |
|
Abnormality of the oligodendroglia |
|
Self-neglect |
|
Homonymous hemianopia |
|
Abnormal circulating aldosterone |
|
Mesangial hypercellularity |
|
Extracapillary hypercellularity |
|
Central serous chorioretinopathy |
|
Abnormal dark-adapted electroretinogram |
|
Decreased distal sensory nerve action potential |
|
Chronic neutropenia |
|
Transient neutropenia |
|
Abnormal right ventricle morphology |
|
Abnormal femoral torsion |
|
Skin-picking |
|
Paralytic ileus |
|
Elevated brain lactate level by MRS |
|
Exodeviation |
|
Absent scrotum |
|
Tented philtrum |
|
Interictal epileptiform activity |
|
Hypoplasia of the optic tract |
|
Sydney crease |
|
Broad proximal phalanges of the hand |
|
Coldness |
|
Lumbar kyphosis |
|
Heavy proteinuria |
|
Erythroid dysplasia |
|
Megakaryocyte dysplasia |
|
Severe platyspondyly |
|
Broad phalanges of the hand |
|
Cervical cord compression |
|
Enlarged metaphyses |
|
Cervical instability |
|
Increased intervertebral space |
|
Broad ischia |
|
Duplication of phalanx of hand |
|
Cerebellopontine angle arachnoid cyst |
|
Cervical hemivertebrae |
|
Decreased circulating gonadotropin level |
|
Decreased inhibin B level |
|
Subependymal nodules |
|
Cortical tubers |
|
Subependymal giant-cell astrocytoma |
|
Retinal astrocytic hamartoma |
|
EEG with series of focal spikes |
|
Abnormal location of the eyebrow |
|
Abnormal epiphyseal ossification |
|
Large central visual field defect |
|
Limited neck range of motion |
|
Focal aware seizure |
|
Focal hemiclonic seizure |
|
Epilepsia partialis continua |
|
Status epilepticus without prominent motor symptoms |
|
Cyanotic episode |
|
Increased HbA2 hemoglobin |
|
Hypomethioninemia |
|
Hemolytic-uremic syndrome |
|
Increased pineal volume |
|
Thickened ribs |
|
Bilateral coxa valga |
|
Foam cells in visceral organs and CNS |
|
Abnormal larynx morphology |
|
Elevated urinary N-acetylaspartic acid level |
|
Glycogen accumulation in muscle fiber lysosomes |
|
Exercise-induced muscle stiffness |
|
Postexertional malaise |
|
Postprandial hyperlactemia |
|
Abnormal muscle glycogen content |
|
Abnormal cardiomyocyte morphology |
|
Abnormal neuron branching |
|
EEG with frontal sharp slow waves |
|
Sacral hypertrichosis |
|
Carpal bone hypoplasia |
|
Tibial metaphyseal irregularity |
|
Fibular metaphyseal irregularity |
|
Increased size of nasopharyngeal adenoids |
|
Thoracic platyspondyly |
|
Ossifying fibroma of the jaw |
|
Reduced catalase activity |
|
Old-aged sensorineural hearing impairment |
|
Premature loss of permanent teeth |
|
Aplasia of the vagina |
|
Upper eyelid entropion |
|
Cavum septum pellucidum |
|
Contracture of the proximal interphalangeal joint of the 4th toe |
|
Broad distal phalanx of the toes |
|
Male urethral meatus stenosis |
|
Anteverted ears |
|
Increased theta frequency activity in EEG |
|
Mild hearing impairment |
|
Severe demyelination of the white matter |
|
Total anomalous pulmonary venous return |
|
Atrophy/Degeneration affecting the central nervous system |
|
Compensated hypothyroidism |
|
Dystonic gait |
|
Abnormal morphology of the great vessels |
|
Esodeviation |
|
Abnormal cranial nerve physiology |
|
Abnormal shape of the palpebral fissure |
|
Symblepharon |
|
Elevated circulating ribitol concentration |
|
Increased level of ribose in urine |
|
Abnormal coronary artery course |
|
Multifocal hyperintensity of cerebral white matter on MRI |
|
Low insertion of columella |
|
Abnormal speech discrimination |
|
Chin with horizontal crease |
|
Tapered distal phalanges of finger |
|
Cone-shaped epiphyses of the toes |
|
Cone-shaped epiphyses of the 2nd toe |
|
Cone-shaped epiphyses of the 3rd toe |
|
Cone-shaped epiphyses of the 4th toe |
|
Hyponasal speech |
|
Aplasia of the epiglottis |
|
Deviation of the hallux |
|
Duplication of phalanx of hallux |
|
Absent nail of hallux |
|
Delayed phalangeal epiphyseal ossification |
|
Triangular shaped distal phalanx of the thumb |
|
Short phalanx of the thumb |
|
Upbeat nystagmus |
|
Mild myopia |
|
Caudal interpedicular narrowing |
|
Decreased activity of mitochondrial complex IV |
|
Severely reduced ejection fraction |
|
Occipital cortical atrophy |
|
Abnormal spaced incisors |
|
Abnormal peripheral action potential amplitude |
|
Hypohidrosis or hyperhidrosis |
|
Seesaw nystagmus |
|
S-shaped palpebral fissures |
|
Medullary nephrocalcinosis |
|
Dislocated wrist |
|
Long uvula |
|
Bursitis |
|
Spontaneous rupture of the globe |
|
Atlantoaxial instability |
|
Abnormality of the femoral head |
|
Dysplasia of the femoral head |
|
Subluxation of the small joints of the hand |
|
Agenesis of pineal gland |
|
Delayed ability to stand |
|
Decreased urinary urate |
|
Hypouricemia |
|
Humoral immunodeficiency |
|
Unusual gastrointestinal infection |
|
Delayed umbilical cord separation |
|
Neonatal omphalitis |
|
Impaired platelet aggregation |
|
BCGosis |
|
Vaginitis |
|
Nasolacrimal sac granuloma |
|
Bronchial breath sound |
|
Abnormal sputum |
|
Nonspherocytic hemolytic anemia |
|
Hypochromia |
|
Episodic fatigue |
|
Increased hemoglobin concentration |
|
Curved distal phalanx of the thumb |
|
Osseous finger syndactyly |
|
Moderate hearing impairment |
|
EEG with generalized sharp slow waves |
|
Recurrent joint dislocation |
|
Absent phalangeal crease |
|
Hypermobility of distal interphalangeal joints |
|
Recurrent shoulder dislocation |
|
Tendon thickening |
|
Myopic astigmatism |
|
Arthrogryposis-like hand anomaly |
|
Abnormality of peripheral somatosensory evoked potentials |
|
Tongue tremor |
|
Reduced coagulation factor V activity |
|
Risus sardonicus |
|
Spasticity of pharyngeal muscles |
|
Lung abscess |
|
Bacteremia |
|
Splenic abscess |
|
Cutaneous abscess |
|
Unusual skin infection |
|
Carbuncle |
|
Enlarged mesenteric lymph node |
|
Ileitis |
|
Chapped lip |
|
Morbilliform rash |
|
Abdominal aseptic abscess |
|
Tendonitis |
|
Unusual CNS infection |
|
Aplasia of the distal phalanx of the 5th finger |
|
Cleft mandible |
|
Aplasia of the distal phalanx of the 5th toe |
|
Cylindroma |
|
Skin appendage neoplasm |
|
Trichoepithelioma |
|
Multiple cutaneous malignancies |
|
Skin-colored papule |
|
Abnormality of the submandibular glands |
|
Abnormality of the sublingual glands |
|
Progressive hyperpigmentation |
|
Abnormal T cell count |
|
Reduced antigen-specific T cell proliferation |
|
Elevated systolic blood pressure |
|
Elevated diastolic blood pressure |
|
Increased body mass index |
|
Methylmalonic acidemia |
|
Dicarboxylic acidemia |
|
Abnormal humerus morphology |
|
Abnormal pancreatic duct morphology |
|
Thin ear helix |
|
2-5 finger syndactyly |
|
Unilateral vocal cord paralysis |
|
Flexion contracture of the 2nd finger |
|
Flexion contracture of thumb |
|
Duplication of distal phalanx of toe |
|
Small scrotum |
|
Abnormal erythrocyte enzyme activity |
|
Hyperketonemia |
|
Increased sarcoplasmic glycogen |
|
Occipital meningocele |
|
Lipomyelomeningocele |
|
Hydromyelia |
|
Pulmonary arteriovenous fistulas |
|
Pleural empyema |
|
Abnormality of the nasal cavity |
|
Oral mucosa nodule |
|
Profound sensorineural hearing impairment |
|
Chorioretinal hyperpigmentation |
|
Abnormality of the digestive system |
|
Osteolysis involving tarsal bones |
|
Osteolysis involving bones of the lower limbs |
|
Osteolysis involving bones of the upper limbs |
|
Sclerotic cranial sutures |
|
Abnormality of the urinary system physiology |
|
Adrenocortical abnormality |
|
Urethritis |
|
Intractable diarrhea |
|
Low pulse pressure |
|
Lip discoloration |
|
Dysgenesis of the basal ganglia |
|
Schizencephaly |
|
Anisocoria |
|
Coat hanger sign of ribs |
|
Periorbital hyperpigmentation |
|
Short proximal phalanx of the 5th finger |
|
Short proximal phalanx of the 2nd finger |
|
Abnormality of the radioulnar joints |
|
Short forearm |
|
Abnormal upper limb bone morphology |
|
Abnormality of the humeral heads |
|
Sclerotic forearm bones |
|
Abnormal calcification of the carpal bones |
|
Aplasia of the 5th finger |
|
Aplasia of the 4th finger |
|
Duplication of phalanx of 3rd finger |
|
Abnormality of the 3rd metacarpal |
|
Aplasia of metacarpal bones |
|
Aplastic pubic bones |
|
Abnormal intramembranous ossification |
|
Unossified sacrum |
|
Short iliac bones |
|
Cochlear malformation |
|
Morphological abnormality of the vestibule of the inner ear |
|
Proximal tibial and fibular fusion |
|
Aplasia of the 2nd metacarpal |
|
Aplasia of the 4th metacarpal |
|
Absent hallux |
|
Pulmonary opacity |
|
Spontaneous neonatal pneumothorax |
|
Discordant atrioventricular connection |
|
Ambiguous atrioventricular connection |
|
Global systolic dysfunction |
|
Premature atrial contractions |
|
Atrial situs inversus |
|
Double aortic arch |
|
Gerbode ventricular septal defect |
|
Right ventricular cardiomyopathy |
|
Bilateral superior vena cava with bridging vein |
|
Mobitz I atrioventricular block |
|
Abnormal aortic valve cusp morphology |
|
Mesocardia |
|
Vaginal stricture |
|
Unilateral polymicrogyria |
|
Bilateral choanal atresia/stenosis |
|
Cutaneous cyst |
|
Abnormality of head or neck |
|
Elevated serum transaminases during infections |
|
Cellular urinary casts |
|
Macular cotton wool spot |
|
Hypergalactosemia |
|
Hypertyrosinemia |
|
Abnormal circulating alanine concentration |
|
Hyperthreoninemia |
|
Medially deviated second toe |
|
Ulnar deviation of the 2nd finger |
|
Triangular epiphysis of the middle phalanx of the 2nd finger |
|
Absent middle phalanx of 2nd finger |
|
Broad phalanges of the 2nd toe |
|
Short middle phalanx of the 5th toe |
|
Glutaric aciduria |
|
Atretic gallbladder |
|
Dark yellow urine |
|
Periportal fibrosis |
|
Bile duct proliferation |
|
Long eyebrows |
|
Underdeveloped nasolabial fold |
|
Mild neurosensory hearing impairment |
|
Proximal symphalangism of hands |
|
Complete duplication of proximal phalanx of the thumb |
|
Complete duplication of the middle phalanx of the 3rd finger |
|
Partial duplication of the proximal phalanx of the 3rd finger |
|
Synostosis of carpals/tarsals |
|
Abnormality of the lens |
|
Tibial deviation of the 2nd toe |
|
Tibial deviation of the 5th toe |
|
Abnormality of the frontal hairline |
|
Restricted large joint movement |
|
Scapuloperoneal amyotrophy |
|
Few cafe-au-lait spots |
|
Shortening of all distal phalanges of the fingers |
|
Shallow anterior chamber |
|
Mild conductive hearing impairment |
|
Atretic occipital cephalocele |
|
Postauricular skin tag |
|
Abnormal drinking behavior |
|
EEG with periodic lateralized epileptiform discharges |
|
Abnormality of zinc homeostasis |
|
Hypomanganesemia |
|
Decreased mitochondrial complex III activity in liver tissue |
|
Decreased circulating total IgA |
|
Failure to thrive secondary to recurrent infections |
|
Severe viral infections |
|
Bladder fistula |
|
Patent urachus |
|
Dilatation of the bladder |
|
Rectourethral fistula |
|
Bladder duplication |
|
EEG with frontal focal spike waves |
|
Psychotic mentation |
|
Focal clonic seizure |
|
EEG with generalized polyspikes |
|
Increased level of methylsuccinic acid in urine |
|
Osmotic diarrhea |
|
Hyperactive bowel sounds |
|
Decreased vigilance |
|
Paroxysmal supraventricular tachycardia |
|
Abnormal QRS complex |
|
Increased level of galactitol in plasma |
|
Increased level of galactitol in urine |
|
Bicarbonate-wasting renal tubular acidosis |
|
Bicarbonaturia |
|
Global proximal tubulopathy |
|
Medial calcification of medium-sized arteries |
|
Periarticular calcification |
|
Abnormal retinal artery morphology |
|
Stippled calcification of the shoulder |
|
Stippled calcification of the elbow |
|
Cortical nephrocalcinosis |
|
Weak pulse |
|
Myocardial calcification |
|
Elevated circulating alanine aminotransferase concentration |
|
Abdominal rigidity |
|
Abnormal levels of alpha-fetoprotein |
|
Plasmacytosis |
|
Decreased serum bicarbonate concentration |
|
Alkaline urine |
|
Galactose intolerance |
|
Elevated circulating aspartate aminotransferase concentration |
|
T2 hypointense thalamus |
|
Dysgyria |
|
Globus pallidus hypointensity on susceptibility-weighted imaging |
|
Dyspepsia |
|
Tracheobronchial leiomyomatosis |
|
Anterior lenticonus |
|
Vulvar neoplasm |
|
Precordial pain |
|
Decreased numbers of nephrons |
|
Abnormal nephron morphology |
|
Glomerulomegaly |
|
Abnormal renal cortex morphology |
|
Abnormality of medullary pyramid morphology |
|
Pulmonary venous occlusion |
|
High serum calcitriol |
|
Increased circulating beta-C-terminal telopeptide level |
|
Decreased circulating parathyroid hormone level |
|
Ovarian teratoma |
|
Abnormal urine pH |
|
Tracheal calcification |
|
Repeated focal motor seizures |
|
Somatosensory auras |
|
Hemidystonia |
|
Focal cortical dysplasia |
|
Generalized convulsive status epilepticus |
|
Abnormality of facial skeleton |
|
Mastoiditis |
|
Cerebellar gliosis |
|
Elevated lactate:pyruvate ratio |
|
Increased caudate lactate level |
|
Hypoglutaminemia |
|
Hyperglutamatemia |
|
Hypertaurinemia |
|
Decreased CSF glutamine concentration |
|
Increased CSF glutamate concentration |
|
Abnormal CSF pyruvate family amino acid concentration |
|
Increased CSF alanine concentration |
|
Increased CSF citrulline concentration |
|
Periventricular cysts |
|
Decreased level of tissue plasminogen activator |
|
Reduced alpha-2-antiplasmin activity |
|
Reduced plasminogen activator inhibitor 1 activity |
|
Reduced plasminogen activator inhibitor 1 antigen |
|
Oral bleeding |
|
Oxygen desaturation on exertion |
|
Pleural thickening |
|
Late inspiratory crackles |
|
Malignant mesothelioma |
|
Craniofacial asymmetry |
|
Single coronary artery origin |
|
Xanthine nephrolithiasis |
|
Aldehyde oxidase deficiency |
|
Reduced xanthine dehydrogenase activity |
|
Sulfite oxidase deficiency |
|
Hyperxanthinemia |
|
Xanthinuria |
|
Increased urinary hypoxanthine |
|
Crystalluria |
|
Abnormal insertion of umbilical cord |
|
Ectopia cordis |
|
Duplication of hand bones |
|
Forearm reduction defects |
|
Hypoplasia of the ventral pons |
|
Simple febrile seizures |
|
Widened cerebellar subarachnoid space |
|
Progressive loss of facial adipose tissue |
|
Abnormality of the musculoskeletal system |
|
Abnormality of skin adnexa morphology |
|
Fused thoracic vertebrae |
|
Abnormal urine carbohydrate level |
|
Abnormal circulating carbohydrate concentration |
|
Abnormal circulating biopterin concentration |
|
Abnormal circulating neopterin concentration |
|
Dysplastic tricuspid valve |
|
Predominantly dermal neutrophilic infiltrate |
|
Sterile abscess |
|
Non-periodic recurrent fever |
|
Abnormal drug response |
|
Acne inversa |
|
Abnormality of lower-limb metaphyses |
|
Upper limb metaphyseal widening |
|
Shortening of the talar neck |
|
Flattening of the talar dome |
|
Beaded ribs |
|
Trapezoidal distal femoral condyles |
|
Vertebral hyperostosis |
|
Sacroiliac joint synovitis |
|
Thick growth plates |
|
Abnormality of the musculature of the upper arm |
|
Wrist pain |
|
Nail bed telangiectasia |
|
Abnormal phalangeal joint morphology of the hand |
|
Anti-topoisomerase I antibody positivity |
|
Anticentromere antibody positivity |
|
Digital pitting scar |
|
Digital ulcer |
|
Anti-RNA-polymerase-III-autoantibody positivity |
|
Anti-carbonic anhydrase II antibody positivity |
|
Anti-PM-Scl antibody positivity |
|
Anti-centromere protein A antibody positivity |
|
Anti-centromere protein B antibody positivity |
|
Anti-U3 RNP antibody positivity |
|
Anti-Th/To antibody positivity |
|
Anti-bicaudal D2 antibody positivity |
|
Anti-nucleolus-organizing region antibody positivity |
|
Anti-PM-Scl100 antibody positivity |
|
Anti-PM-Scl75 antibody positivity |
|
Anti-U11/U12 RNP antibody positivity |
|
Anti-Ku antibody positivity |
|
Anti-B23 antibody positivity |
|
Anti-RuvBL1/2 antibody positivity |
|
Anti-platelet derived growth factor receptor |
|
Anti-angiotensin receptor type-1 antibody positivity |
|
Anti-endothelin-1 type A receptor antibody positivity |
|
Anti-angiotensin-converting enzyme 2 antibody positivity |
|
Anti-voltage-gated potassium channel antibody positivity |
|
Gastrointestinal telangiectasia |
|
Abnormality of facial soft tissue |
|
Microdontia of primary teeth |
|
Head-banging |
|
Stellate iris |
|
Triangular-shaped open mouth |
|
Narrow joint spaces of the elbow |
|
Abnormality of nasopharyngeal adenoids |
|
Decreased circulating acid maltase activity |
|
Basilar artery calcification |
|
Abnormal meningeal morphology |
|
Abnormal subarachnoid space morphology |
|
Increased anti-parasite IgE antibody level |
|
Posterior fossa cyst at the fourth ventricle |
|
Abnormality of optic chiasm morphology |
|
Extremely elevated creatine kinase |
|
Skewfoot |
|
Anoperineal fistula |
|
Hump-shaped mound of bone in central and posterior portions of vertebral endplate |
|
Broad radial metaphysis |
|
Wide distal femoral metaphysis |
|
Interictal EEG abnormality |
|
Hemimegalencephaly |
|
Hemihypsarrhythmia |
|
Pulmonary capillary hemangiomatosis |
|
Centrilobular ground-glass opacification on pulmonary HRCT |
|
Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity |
|
Eyelid fasciculation |
|
Focal autonomic seizure |
|
Nocturnal seizures |
|
Abnormal external nose morphology |
|
Abnormal third ventricle morphology |
|
Abnormality of the forearm |
|
Aged leonine appearance |
|
Abnormality of central nervous system electrophysiology |
|
Low voltage EEG |
|
Periventricular white matter hypodensities |
|
Uric acid urolithiasis independent of gout |
|
Mild proteinuria |
|
Webbed penis |
|
Marked delay in eruption of permanent teeth |
|
Ventral shortening of foreskin |
|
Urethral diverticulum |
|
Cardiovascular calcification |
|
Multiple bony cystic lesions |
|
Spasticity of facial muscles |
|
Myotonia of the lower limb |
|
Abnormal small intestinal mucosa morphology |
|
Elevated fecal osmolality |
|
Abnormal large intestinal mucosa morphology |
|
Crescentic glomerulonephritis |
|
Renal interstitial immunoglobulin deposits |
|
Anomalous origin of right pulmonary artery from ascending aorta |
|
Arteria lusoria |
|
Abnormal descending aorta morphology |
|
Central corneal dystrophy |
|
Subepithelial corneal opacities |
|
Somnambulism |
|
Confusional arousal |
|
Central posterior corneal opacity |
|
Clasp-knife sign |
|
Undetectable dark-adapted electroretinogram |
|
Increased OCT-measured foveal thickness |
|
Retinitis |
|
Ring scotoma |
|
Complex organic aciduria |
|
Decreased activity of mitochondrial respiratory chain |
|
Anti-myelin oligodendrocyte glycoprotein antibody positivity |
|
EEG with focal slow activity |
|
Eye movement-induced pain |
|
Herpes simplex encephalitis |
|
Post-vaccination measles |
|
Post-vaccination rubella |
|
Severe parainfluenza infection |
|
C1-C2 subluxation |
|
Calcaneal epiphyseal stippling |
|
Laryngeal calcification |
|
Epiphyseal stippling of toe phalanges |
|
Stippling of the epiphyses of the distal phalanges of the hand |
|
Cervical spine instability |
|
Abnormality of hyoid bone |
|
Hypoplasia of the anterior nasal spine |
|
Abnormality of the costochondral junction |
|
Short distal phalanx of the 3rd finger |
|
Increased urinary galactosylated oligosaccharide |
|
Beaking of vertebral bodies T12-L3 |
|
Broad long bone diaphyses |
|
Spatulate ribs |
|
Abnormal myeloid leukocyte morphology |
|
Beta 2-microglobulinuria |
|
Renal lymphocytic tubulitis |
|
Renal neutrophilic tubulitis |
|
Renal interstitial edema |
|
Intermediate uveitis |
|
Retinal vasculitis |
|
Anterior chamber flare |
|
Chorioretinal scar |
|
Iris nevus |
|
Annular cutaneous lesion |
|
Anti-La/SS-B antibody positivity |
|
Tonic pupil |
|
Abnormal liver sonography |
|
Increased hepatitis B virus antibody level |
|
Abnormality of the seventh cranial nerve |
|
Abnormal glucose homeostasis |
|
Lower cranial nerve dysfunction |
|
Childhood onset sensorineural hearing impairment |
|
Low-frequency sensorineural hearing impairment |
|
Hyperactive renin-angiotensin system |
|
Hypochloremia |
|
Dilatation of mesenteric artery |
|
Vulval varicose vein |
|
Decreased specific antibody response to polysaccharide vaccine |
|
Complete or near-complete absence of specific antibody response to pneumococcus vaccine |
|
Decreased specific antibody response to protein-conjugated polysaccharide vaccine |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine |
|
Recurrent bacterial upper respiratory tract infections |
|
Recurrent bacterial meningitis |
|
Abnormal IgA level |
|
Abnormal IgG level |
|
Abnormal IgM level |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine |
|
Pruritus on foot |
|
Palmar pruritus |
|
Pallidal degeneration |
|
Bull's eye maculopathy |
|
Dysmetric vertical saccades |
|
Leg dystonia |
|
Mildly reduced ejection fraction |
|
Neuronal/glioneuronal neoplasm of the central nervous system |
|
Pruritis on abdomen |
|
Pruritis on breast |
|
Punctate palmoplantar hyperkeratosis |
|
Congenital abnormal hair pattern |
|
Atrichia |
|
Serpiginous cutaneous lesion |
|
Absent lunula |
|
Abnormal finger phalanx morphology |
|
Partial duplication of the distal phalanx of the 2nd finger |
|
Narrow nail |
|
Platonychia |
|
Ingrown nail |
|
Slender distal phalanx of finger |
|
Endocardial fibrosis |
|
Left ventricular diastolic dysfunction |
|
Quadruple gallop rhythm |
|
P pulmonale |
|
Adult-onset night blindness |
|
Female reproductive system neoplasm |
|
Granular macular appearance |
|
Foveal hyporeflective spaces on macular OCT |
|
Exacerbated by head trauma |
|
Eosinophilic infiltration of the esophagus |
|
Abnormal peristalsis |
|
Food allergy |
|
Egg allergy |
|
Food-induced anaphylaxis |
|
Increased anti-food allergen IgE antibody level |
|
Esophageal food impaction |
|
Esophageal exudate |
|
Esophageal furrows |
|
Eosinophilic microabscess formation in the esophagus |
|
Fused labia majora |
|
Increased circulating progesterone |
|
Abnormality of circulating pregnenolone level |
|
Decreased circulating dehydroepiandrosterone-sulfate level |
|
Abnormal response to human chorionic gonadotrophin stimulation test |
|
Abnormality of metacarpal epiphyses |
|
Abnormality of skeletal maturation |
|
Increased circulating corticosterone level |
|
Abnormal ovarian morphology |
|
Carcinoma |
|
Pulmonary tuberculosis |
|
Recurrent vulvovaginal candidiasis |
|
Recurrent shingles |
|
Severe varicella zoster infection |
|
Decreased proportion of CD4-positive T cells |
|
Decreased proportion of transitional B cells |
|
Decreased specific antibody response to vaccination |
|
Seizure precipitated by febrile infection |
|
Seizure cluster |
|
Takotsubo cardiomyopathy |
|
Parageusia |
|
Burning mouth |
|
Abnormality of taste sensation |
|
Rhegmatogenous retinal detachment |
|
Undetectable electroretinogram |
|
Optic disc drusen |
|
Refractory status epilepticus |
|
Focal aware motor seizure |
|
EEG with frontal epileptiform discharges |
|
EEG with temporal epileptiform discharges |
|
Dull |
|
Increased proportion of HLA DR+ T cells |
|
Abnormal spleen physiology |
|
Jejunitis |
|
Increased circulating IgG4 level |
|
Abnormal spinal dura mater morphology |
|
Abnormality of cervical plexus |
|
Irregular astigmatism |
|
Increased corneal thickness |
|
Disseminated nontuberculous mycobacterial infection |
|
Salmonella osteomyelitis |
|
Tegumentary leishmaniasis susceptibility |
|
Recurrent Klebsiella infections |
|
Histoplasmosis |
|
Coccidioidomycosis |
|
Severe toxoplasmosis |
|
Adverse drug response |
|
Drug allergy |
|
Vaginal mucosal ulceration |
|
Posttraumatic stress symptom |
|
Impaired platelet adhesion |
|
Borderline personality disorder |
|
Axenfeld anomaly |
|
Pulmonary artery sling |
|
Submucous cleft of soft and hard palate |
|
Iliac horns |
|
Spondylolysis |
|
Thickening of the glomerular basement membrane |
|
Proximal finger joint hyperextensibility |
|
Lester's sign |
|
Internal carotid artery hypoplasia |
|
Coronary artery dissection |
|
Humeral pseudarthrosis |
|
Precocious puberty in females |
|
Dilated left subclavian artery |
|
Increased circulating IgG1 level |
|
Abnormal ureter morphology |
|
Decreased retinol-binding protein level |
|
Abnormal breast morphology |
|
Sialadenitis |
|
Lymphocytoma cutis |
|
Abnormal retinal nerve fiber layer morphology |
|
Recurrent infections due to aspiration |
|
GM2-ganglioside accumulation |
|
Abnormality of glycolipid metabolism |
|
Increased serum beta-hexosaminidase |
|
Early onset absence seizures |
|
Agenesis of maxillary lateral incisor |
|
Agenesis of first permanent molar tooth |
|
Abnormality of primary molar morphology |
|
Agenesis of mandibular premolar |
|
Thyroglossal cyst |
|
Long-tract signs |
|
Abnormal atrial septum morphology |
|
Palatal myoclonus |
|
Increased urinary 11-deoxycorticosterone level |
|
Premature fusion of the radial epiphyseal plates |
|
Abnormal ovarian physiology |
|
Atrophy/Degeneration affecting the cerebrum |
|
Decreased sweating due to autonomic dysfunction |
|
Hypothalamic atrophy |
|
Abnormality of the cementum |
|
Adenocarcinoma of the small intestine |
|
Myoclonic atonic seizures |
|
EEG with focal spike waves |
|
Lack of peer relationships |
|
Deja vu |
|
Peripheral axonal degeneration |
|
Abnormality of central somatosensory evoked potentials |
|
Vitamin B12 deficiency |
|
Vasospasm |
|
Marcus Gunn pupil |
|
Vitreous inflammatory cells |
|
Macular drusen |
|
EEG with frontal focal spikes |
|
Non-convulsive status epilepticus without coma |
|
Abnormal circulating androgen level |
|
Erythema migrans |
|
Cold-induced muscle cramps |
|
Increased intramuscular fat |
|
Gastrocnemius myalgia |
|
Abnormal lacrimal gland morphology |
|
Lacrimal gland aplasia |
|
Hypoplasia of the lacrimal punctum |
|
Limbal stem cell deficiency |
|
Enlarged sylvian cistern |
|
Abnormal vertebral artery morphology |
|
Abnormality of serum cytokine level |
|
Reduced natural killer cell activity |
|
Decreased circulating progesterone |
|
Ectopic lacrimal punctum |
|
Punctal stenosis |
|
Duplicated lacrimal punctum |
|
Abnormality of the corneal limbus |
|
Abnormal axial skeleton morphology |
|
Large cafe-au-lait macules with irregular margins |
|
Horizontal inferior border of scapula |
|
Broad carpal bones |
|
Abnormal podocyte morphology |
|
Minimal change glomerulonephritis |
|
Abnormal urine output |
|
Foamy urine |
|
Diffuse mesangial sclerosis |
|
Flared femoral metaphysis |
|
Degenerative vitreoretinopathy |
|
Narrow small joints of the hand |
|
Hyperconvex vertebral body endplates |
|
Abnormality of hand joint mobility |
|
Enlargement of the proximal femoral epiphysis |
|
Irregular acetabular roof |
|
Abnormal erythrocyte sedimentation rate |
|
Abnormal C-reactive protein level |
|
Facet joint arthrosis |
|
Abnormality of the os naviculare pedis |
|
Fragmented, irregular epiphyses |
|
Tibiofibular diastasis |
|
Glomerular C3 deposition |
|
Granulocytic hyperplasia |
|
Increased basophil count |
|
Increased proportion of CD25+ mast cells |
|
Increased antimullerian hormone level |
|
Abnormal circulating estrogen level |
|
Insulin insensitivity |
|
Flattened metatarsal heads |
|
Abnormality of metatarsal epiphysis |
|
Abnormality of the second metatarsal bone |
|
Thickened cortex of bones |
|
Abnormality of the third metatarsal bone |
|
Abnormality of the fifth metatarsal bone |
|
Abnormality of the fourth metatarsal bone |
|
Renal artery atherosclerosis |
|
Decreased thyroid-stimulating hormone level |
|
Reduced radioactive iodine uptake |
|
Abnormal circulating thyroglobulin level |
|
Darier's sign |
|
Abnormal tricuspid valve annulus morphology |
|
Abnormal tricuspid valve leaflet morphology |
|
Neutrophilic infiltration of the skin |
|
Linear IgA deposits along the epidermal basement membrane zone |
|
Monoclonal elevation of circulating IgA |
|
Interface hepatitis |
|
Anti-glycoprotein-210 antibody positivity |
|
Anti-p53 antibody positivity |
|
Anti-Y-box protein-1 antibody positivity |
|
Anti-Gerbich phenotype 1 antibody positivity |
|
Anti-MIT3 antibody positivity |
|
Anti-hexokinase-1 antibody positivity |
|
Anti-Kelch like protein 12 antibody positivity |
|
Anti-sp100 antibody positivity |
|
Interlobular bile duct destruction |
|
Granulomatous cholangitis |
|
Granuloma |
|
Tarsal stippling |
|
Abnormal tarsal ossification |
|
Ankle pain |
|
Juvenile aseptic necrosis |
|
Increased pituitary glycoprotein hormone alpha subunit level |
|
Decreased circulating free T3 |
|
Hyperpigmented streaks |
|
Abnormal capillary morphology |
|
Abnormality of fibrinolysis |
|
Decreased urine output |
|
Abnormality of chemokine secretion |
|
Abnormality of interferon secretion |
|
Increased radioactive iodine uptake |
|
Positive perchlorate discharge test |
|
Impaired sensitivity to thyroid stimulating hormone |
|
Abnormal cry |
|
Indurated nodule |
|
Abnormality of interleukin secretion |
|
Nonepidermolytic palmoplantar keratoderma |
|
Abnormal umbilicus morphology |
|
Gallbladder perforation |
|
White papule |
|
Opportunistic infection |
|
Extrapulmonary tuberculosis |
|
Abnormal meiosis |
|
Oocyte arrest at metaphase I |
|
Abnormal oocyte morphology |
|
Trimethylaminuria |
|
Negative affectivity |
|
Peripheral thrombosis |
|
Anticardiolipin IgG antibody positivity |
|
Anti-beta 2 glycoprotein I antibody positivity |
|
Anticardiolipin IgM antibody positivity |
|
Anti-phosphatidyl ethanolamine antibody positivity |
|
Anti-phosphatidyl choline antibody positivity |
|
Anti-phosphatidyl glycerol antibody positivity |
|
Anti-phosphatidyl inositol antibody positivity |
|
Anti-phosphatidyl serine antibody positivity |
|
Anti-annexin-V antibody positivity |
|
Testicular mass |
|
Abnormality of the epididymis |
|
Ectopia of the spleen |
|
Abnormal peripheral nervous system morphology |
|
Thalamic hemorrhage |
|
Abnormality of infra-orbital nerve |
|
Abnormal ocular adnexa morphology |
|
Abnormality of bony orbit of skull |
|
Trigeminal anesthesia |
|
Abnormality of the fascia |
|
Limited mobility of proximal interphalangeal joint |
|
IgA deposition in the glomerulus |
|
Decreased hepcidin level |
|
Exacerbated by tobacco use |
|
Hepatic lobular inflammation |
|
Portal inflammation |
|
Increased fecal porphyrin |
|
Intracellular accumulation of autofluorescent lipopigment storage material |
|
Granular osmiophilic deposits (GROD) in cells |
|
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material |
|
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material |
|
EEG with abnormally slow frequencies |
|
Motor regression |
|
Purple urine |
|
Increased fecal coproporphyrin 3 |
|
Red urine |
|
Red-brown urine |
|
Erythrodontia |
|
Seborrhoeic blepharitis |
|
Increased fecal coproporphyrin 1 |
|
Reduced haptoglobin level |
|
Increased stool urobilinogen concentration |
|
Dissociated sensory loss |
|
Anti-sphingolipid antibody positivity |
|
Penetrating foot ulcers |
|
Paralytic lagophthalmos |
|
Abnormality of renin-angiotensin system |
|
Abnormal growth hormone level |
|
Increased circulating creatine kinase MB isoform |
|
Mixed respiratory and metabolic acidosis |
|
Bloody mucoid diarrhea |
|
Constrictive pericarditis |
|
Hepatic granulomatosis |
|
Abnormality of the vestibular nerve |
|
Achlorhydria |
|
Lymphangiectasis |
|
Opportunistic bacterial infection |
|
Positive blood 1,3 beta glucan test |
|
Hypersensitivity pneumonitis |
|
Invasive pulmonary aspergillosis |
|
Increased red blood cell count |
|
Myocardial necrosis |
|
Intrarenal abscess |
|
Pulmonary situs ambiguus |
|
Ectopic pregnancy |
|
Lithoptysis |
|
Abnormal atrial arrangement |
|
Abnormal inferior vena cava morphology |
|
Abnormality of hepatobiliary system physiology |
|
Pulmonary granulomatosis |
|
Gastrointestinal eosinophilia |
|
Increased circulating specific IgE antibody |
|
Increased pulmonary capillary wedge pressure |
|
Vascular calcification |
|
Abnormal number of teeth |
|
Retinal arteriolar constriction |
|
Dense calcifications in the cerebellar dentate nucleus |
|
Patchy demyelination of subcortical white matter |
|
Lower limb dysmetria |
|
Ossifying fibroma |
|
Opportunistic fungal infection |
|
Abnormality of the jejunum |
|
Fungal meningitis |
|
Apical pulmonary opacity |
|
Pneumocystis jirovecii pneumonia |
|
Combined cystic and ground-glass pattern on pulmonary HRCT |
|
Multiple pulmonary cysts |
|
Bloodstream infectious agent |
|
Thin glomerular basement membrane |
|
Diffuse glomerular basement membrane lamellation |
|
Thickening of glomerular capillary wall |
|
Renal glomerular foam cells |
|
Eyelid retraction |
|
Unusual infection |
|
Splenic cyst |
|
Abnormal subpleural morphology |
|
Invasive parasitic infection |
|
Bilirubinuria |
|
Storage in hepatocytes |
|
Bilateral camptodactyly |
|
Cholesteatoma |
|
Pulmonary bleb |
|
Molluscoid pseudotumors |
|
Incisional hernia |
|
Dermatochalasis |
|
Subcutaneous spheroids |
|
Cervical insufficiency |
|
Increased circulating myelocyte count |
|
Increased circulating metamyelocyte count |
|
Acute cutaneous wound |
|
Increased serum leptin |
|
Non-medullary thyroid carcinoma |
|
Widened cerebral subarachnoid space |
|
Basal ganglia necrosis |
|
Permanent atrial fibrillation |
|
Inflammatory arteriopathy |
|
Homocystinuria |
|
Vivid hallucinations |
|
Euphoria |
|
Imbalanced hemoglobin synthesis |
|
Decreased circulating osteocalcin level |
|
Diminished motivation |
|
Ankle joint effusion |
|
Neuritis |
|
Reduced renal corticomedullary differentiation |
|
Transient hearing impairment |
|
Congenital intracerebral calcification |
|
Addictive behavior |
|
Abnormal gallbladder morphology |
|
Hemobilia |
|
Endolymphatic sac tumor |
|
Unroofed coronary sinus |
|
Anomalous origin of the left common carotid artery from the main pulmonary artery |
|
Abnormally loud pulmonic component of the second heart sound |
|
Presyncope |
|
Paradoxical splitting of the second heart sound |
|
Automatic atrial tachycardia |
|
Third heart sound |
|
Fixed splitting of the second heart sound |
|
Mild malformation of cortical development |
|
Increased DLCO |
|
Irregular septal thickening on pulmonary HRCT |
|
Hepatocellular necrosis |
|
Alkalosis |
|
Abnormal capillary physiology |
|
Abnormality of venous physiology |
|
Absent ankle pulse |
|
Hyperglycorrhachia |
|
Hostility |
|
Bradyphrenia |
|
Bilateral vestibular schwannoma |
|
Cortical cataract |
|
Intraretinal hemorrhage |
|
Retinal neovascularization |
|
Maintenance insomnia |
|
Adipose tissue loss |
|
Cyclic neutropenia |
|
Normal interictal EEG |
|
Neonatal seizure |
|
Eyelid myoclonia seizure |
|
Neonatal electro-clinical seizure with behavior arrest |
|
Focal head nodding automatism seizure |
|
Hand apraxia |
|
Pill-rolling tremor |
|
Reticular hyperpigmentation |
|
Broad ulna |
|
Metaphyseal striations |
|
Shortening of all metacarpals |
|
Wind-swept deformity of the knees |
|
Limited hip extension |
|
Irregular carpal bones |
|
Prominent umbilicus |
|
Pubertal developmental failure in females |
|
Abnormality of the nasal tip |
|
Carotid artery occlusion |
|
Aplasia of the falx cerebri |
|
Abnormal morphology of the olfactory bulb |
|
Proboscis |
|
Vascular ring |
|
Prominent nasal septum |
|
Widened distal phalanges |
|
Abnormal subclavian artery morphology |
|
Hypoamylasemia |
|
Monochromacy |
|
Undetectable light-adapted electroretinogram |
|
Inner retinal layer loss on macular OCT |
|
Long hairs growing from helix of pinna |
|
Intrusion symptom |
|
Generalized tonic-clonic seizures on awakening |
|
Brown anomaly |
|
Anomalous origin of left subclavian artery |
|
Focal impaired awareness autonomic seizure |
|
Experiential auras |
|
Focal hypointensity of cerebral white matter on MRI |
|
Hypoplastic anterior commissure |
|
Right unicoronal synostosis |
|
Ethmoidal encephalocele |
|
Rhombencephalosynapsis |
|
Combined immunodeficiency |
|
Broad middle phalanx of finger |
|
Abnormal T cell subset distribution |
|
Decreased lymphocyte proliferation in response to anti-CD3 |
|
Decreased circulating total IgG |
|
Clinodactyly of the 3rd finger |
|
Decreased lipoprotein lipase activity |
|
Semilobar holoprosencephaly |
|
Aplasia/Hypoplasia of the phalanges of the thumb |
|
Pyoderma |
|
Hyperechogenic pancreas |
|
Ulnar deviation of the 3rd finger |
|
Abnormal endocrine physiology |
|
Monostotic fibrous dysplasia |
|
Polyostotic fibrous dysplasia |
|
Aneurysmal bone cyst |
|
Elevated red cell adenosine deaminase activity |
|
Macrocytic dyserythropoietic anemia |
|
Radial artery aplasia |
|
Elevated circulating long chain fatty acid concentration |
|
Reduced carnitine O-palmitoyltransferase activity |
|
Large clumps of pigment irregularly distributed along hair shaft |
|
Abnormal natural killer cell morphology |
|
Recurrent streptococcal infections |
|
Decreased plasma free carnitine |
|
Air crescent sign |
|
Cutaneous wound |
|
Colon perforation |
|
Shivering |
|
Pulmonary pneumatocele |
|
Paucity of anterior horn motor neurons |
|
Focal T2 hyperintense thalamic lesion |
|
Irregular respiration |
|
Abnormality of the internal capsule |
|
Congenital stationary night blindness with normal fundus |
|
Congenital stationary night blindness with abnormal fundus |
|
Reduced amplitude of dark-adapted bright flash electroretinogram a-wave |
|
Thyroid C cell hyperplasia |
|
Cervical neoplasm |
|
Prominent corneal nerve fibers |
|
Ganglioneuromatosis |
|
Multiple mucosal neuromas |
|
Cutaneous lichen amyloidosis |
|
Malabsorption of Vitamin B12 |
|
Hypoplastic spleen |
|
Macronodular cirrhosis |
|
Central primitive neuroectodermal tumor |
|
Choroid plexus carcinoma |
|
Lacunar stroke |
|
Migraine with aura |
|
Stress urinary incontinence |
|
Focal manual automatism seizure |
|
Focal pedal automatism seizure |
|
Alien limb phenomenon |
|
Chronic bronchitis |
|
Abnormal liver physiology |
|
Testicular fibrosis |
|
Abnormal coronary artery physiology |
|
Otitis externa |
|
Exudative pleural effusion |
|
Folliculitis |
|
Coccidioidal meningitis |
|
Mycobacterium abscessus abscessus infection |
|
Circumoral cyanosis |
|
Linear arrays of macular hyperkeratoses in flexural areas |
|
Eruptive vellus hair cyst |
|
Abnormal cartilage collagen |
|
Keratan sulfate excretion in urine |
|
Aplasia/hypoplasia of the extremities |
|
Anterior vertebral fusion |
|
Motor tics |
|
Phonic tics |
|
Self-mutilation of tongue and lips due to involuntary movements |
|
Temporomandibular joint crepitus |
|
Socially inappropriate behavior |
|
Eyelid myoclonus |
|
Myoclonic status epilepticus |
|
Distal femoral metaphyseal abnormality |
|
Widened proximal tibial metaphyses |
|
Abnormalities of the metaphyses of the hand |
|
Metaphyseal cupping of proximal phalanges |
|
Osteosclerosis of ribs |
|
Distal femoral metaphyseal irregularity |
|
Radial metaphyseal irregularity |
|
Ulnar metaphyseal irregularity |
|
Short diaphyses |
|
Hypotrophy of the small hand muscles |
|
Progressive bowing of long bones |
|
Agyria |
|
Widely spaced primary teeth |
|
Hypoplasia of the primary teeth |
|
Multiple muscular ventricular septal defects |
|
Abnormal circulating selenium concentration |
|
Decreased serum zinc |
|
Chronic cutaneous wound |
|
Anal fissure |
|
Abnormality of upper limb epiphysis morphology |
|
Abnormality of the epiphyses of the feet |
|
Multiple small vertebral fractures |
|
2-4 toe cutaneous syndactyly |
|
Elevated leukocyte cystine |
|
EEG with central focal spikes |
|
EEG with occipital focal spikes |
|
EEG with parietal focal spikes |
|
Focal atonic seizure |
|
Recurrent loss of toenails and fingernails |
|
Arm dystonia |
|
Subcortical dementia |
|
Nasofrontal encephalocele |
|
EEG with temporal focal spike waves |
|
Subcortical heterotopia |
|
Abnormality of the foramen magnum |
|
Increased blood pressure |
|
Mood changes |
|
Bilateral perisylvian polymicrogyria |
|
Perisylvian predominant thick cortex pachygyria |
|
Anterior predominant thick cortex pachygyria |
|
EEG with changes in voltage |
|
Posterior predominant thick cortex pachygyria |
|
Abnormal cutaneous elastic fiber morphology |
|
Chronic monilial nail infection |
|
Perianal rash |
|
Slow-growing scalp hair |
|
Drumstick terminal phalanges |
|
Eating-induced seizure |
|
Abnormal tongue physiology |
|
Motor seizure |
|
Maternal fever in pregnancy |
|
Posterior pituitary agenesis |
|
Tapered toe |
|
Deep white matter hypodensities |
|
Renal magnesium wasting |
|
Pear-shaped nose |
|
Anomaly of lower limb diaphyses |
|
Cessation of head growth |
|
Shortened sleep cycle |
|
Abnormality of the radial head |
|
Synostosis involving bones of the upper limbs |
|
Elevated propionylcarnitine level |
|
Impaired executive functioning |
|
Acromicria |
|
Multiple joint dislocation |
|
Anterior atlanto-occipital dislocation |
|
Repeated pneumothoraces |
|
Peripapillary atrophy |
|
Lambdoidal craniosynostosis |
|
Birth length greater than 97th percentile |
|
Periventricular nodular heterotopia |
|
Decreased adenosylcobalamin |
|
Decreased methylcobalamin |
|
Metaphyseal spurs |
|
Absent glenoid fossa |
|
Peripheral retinal avascularization |
|
Chin with H-shaped crease |
|
Small proximal tibial epiphyses |
|
Restricted neck movement due to contractures |
|
Migraine without aura |
|
Retinal cotton wool spot |
|
Focal hyperintensity of cerebral white matter on MRI |
|
Punctate vasculitis skin lesions |
|
Dermatan sulfate excretion in urine |
|
Decreased light- and dark-adapted electroretinogram amplitude |
|
Congenital lactic acidosis |
|
Abnormality of radial epiphyses |
|
Radially deviated wrists |
|
Fragmentation of the metacarpal epiphyses |
|
Microlissencephaly |
|
Confluent hyperintensity of cerebral white matter on MRI |
|
Abnormal concentration of acylcarnitine in the urine |
|
Absent vertebral body mineralization |
|
Delayed vertebral ossification |
|
Abnormal isohemagglutinin level |
|
Nevus anemicus |
|
Cerebellar glioma |
|
Brainstem glioma |
|
Cerebral artery stenosis |
|
Narrowing of medullary canal |
|
Glomus jugular tumor |
|
Bounding pulse |
|
Hypertrophy of the upper limb |
|
Conus terminalis arteriovenous malformation |
|
Contractures of the joints of the upper limbs |
|
Retrocollis |
|
Abnormality of the brainstem white matter |
|
Increased phosphoribosylpyrophosphate synthetase activity |
|
Corticospinal tract hypoplasia |
|
Stage 4 chronic kidney disease |
|
Abnormal circulating pyruvate family amino acid concentration |
|
Esophageal obstruction |
|
Abnormal gonadotropin-releasing hormone concentration |
|
Clostridium difficile colitis |
|
Lumbosacral hemangioma |
|
Primum atrial septal defect |
|
Sinus venosus atrial septal defect |
|
Right axis deviation |
|
Ureterovesical junction obstruction |
|
Tube feeding |
|
Mulberry molar |
|
Notched primary central incisor |
|
Semilunar tooth |
|
Urachal cyst |
|
Recurrent gram-negative bacterial infections |
|
Conjunctival amyloidosis |
|
Corneal foreign body sensation |
|
Anterior chamber cells |
|
Levator palpebrae superioris atrophy |
|
Limited vertical extraocular movement |
|
Compensatory chin elevation |
|
Nonprogressive restrictive external ophthalmoplegia |
|
Abnormal pupil shape |
|
Aplasia of the olfactory bulb |
|
Anti-GQ1b antibody positivity |
|
Episodic hypersomnia |
|
Parosmia |
|
Sweet craving |
|
Hot flashes |
|
Derealization |
|
Absent peripheral lymph nodes in presence of infection |
|
Genital edema |
|
Vaginal birth after Caesarian |
|
Gallop rhythm |
|
Hydroa vacciniforme |
|
Papulovesicular eruption |
|
Linear C3 deposits along the epidermal basement membrane zone |
|
Eosinophilic dermal infiltration |
|
Geographic tongue |
|
Linear IgG deposits along the epidermal basement membrane zone |
|
Anti-histone antibody positivity |
|
Abnormal PR interval |
|
Atrioventricular valve regurgitation |
|
Fetal tachycardia |
|
Effort-induced polymorphic ventricular tachycardia |
|
Atrioventricular reentrant tachycardia |
|
Left ventricular dilatation |
|
Anterior chamber inflammatory cells |
|
Retinal perforation |
|
Best corrected visual acuity 0.1 LogMAR |
|
Pulmonary amyloidosis |
|
Cerebral cortical microinfarct |
|
Lumbar spinal canal stenosis |
|
Anti-Hu antibody positivity |
|
Pulmonary nodule |
|
Depersonalization |
|
Orthostatic tachycardia |
|
Splenic hemophagocytosis |
|
Decreased circulating C1-esterase inhibitor concentration |
|
Episodic upper airway obstruction |
|
Vitamin B3 deficiency |
|
Jaw ankylosis |
|
Anti-beta-2-Glycoprotein I IgG antibody positivity |
|
Anti-beta-2-Glycoprotein I IgM antibody positivity |
|
Glomerular crescent formation |
|
Polyclonal elevation of circulating IgG |
|
Testicular lipomatosis |
|
Anti-Sm antibody positivity |
|
Anti-phospholipase A2 receptor antibody positivity |
|
Intestinal ischemia |
|
Macrodactyly of finger |
|
Exostoses of hand bones |
|
Long metacarpals |
|
Entrapment neuropathy of the ulnar nerve at elbow |
|
Macrodactyly of toe |
|
Enlarged epiphyses of the toes |
|
Medial deviation of the foot |
|
Abnormal metatarsal ossification |
|
Increased placental thickness |
|
Severe T-cell immunodeficiency |
|
Wide capital femoral epiphyses |
|
Abnormal proportion of naive CD4 T cells |
|
Reduced proportion of naive CD8 T cells |
|
Arteriosclerosis of small cerebral arteries |
|
Spurred metaphyses of the upper limbs |
|
Abnormality of the tibial plateaux |
|
Osteoarthritis of the distal interphalangeal joint |
|
Enlarged epiphyses of the phalanges of the hand |
|
Stiff knee |
|
Osteoarthritis of the elbow |
|
Stiff shoulders |
|
Abnormality of cytokine secretion |
|
Abnormal metabolism |
|
Reduced dihydropyrimidine dehydrogenase activity |
|
Uraciluria |
|
Palpebral thickening |
|
Episodic hemiplegia |
|
Ocular flutter |
|
Displacement of the papillary muscles |
|
Reduced factor XII activity |
|
Retinal arteriolar occlusion |
|
Pear-shaped vertebrae |
|
Central vertebral hypoplasia |
|
Fibular overgrowth |
|
Squared-off platyspondyly |
|
Narrow vertebral interpedicular distance |
|
Flattened humeral epiphyses |
|
Ivory epiphyses of the phalanges of the hand |
|
Aplasia of the nasal bone |
|
Microcoria |
|
Hypoplasia of the dental root |
|
Twin-to-twin transfusion |
|
Anomalous origin of one pulmonary artery from ascending aorta |
|
Abnormal superior vena cava morphology |
|
Anomalous origin of the left common carotid artery from the brachiocephalic artery |
|
Atrial standstill |
|
Left ventricular noncompaction |
|
Slender metacarpals |
|
Citrullinuria |
|
Hypercystinemia |
|
Increased CSF glycine concentration |
|
Axial myopia |
|
Impairment of fructose metabolism |
|
Neck hypertonia |
|
Decreased urine alpha-ketoglutarate concentration |
|
Hypoornithinemia |
|
Decreased CSF arginine concentration |
|
Increased CSF lysine concentration |
|
Abnormal CSF ornithine concentration |
|
Abnormal anterior horn cell morphology |
|
Cupped ribs |
|
Flattened radial epiphyses |
|
Abnormality of the ulnar epiphyses |
|
Dislocation of the femoral head |
|
Delayed femoral head ossification |
|
Stiff ankle |
|
Flattened femoral epiphysis |
|
Double-layered patella |
|
Abnormality of the humeral metaphyses |
|
Cervical platyspondyly |
|
Absent epiphyses of the phalanges of the hand |
|
Ivory epiphyses |
|
Femoral spur |
|
Diastolic heart murmur |
|
Blood pressure substantially higher in arms than legs |
|
Abnormal ascending aorta morphology |
|
Bidirectional shunt |
|
Continuous heart murmur |
|
Abnormal coronary artery origin |
|
Drug-sensitive hemolytic anemia |
|
Increased red cell osmotic resistance |
|
Proximal spinal muscular atrophy |
|
Abnormal muscle fiber dysferlin |
|
Abnormality of blood circulation |
|
Abnormal ventriculoarterial connection |
|
Dextrotransposition of the great arteries |
|
Levotransposition of the great arteries |
|
Aplasia/Hypoplasia of the vertebrae |
|
Peripheral retinal degeneration |
|
Irregular iliac crest |
|
Corner fracture of metaphysis |
|
Abnormal circulating osteocalcin level |
|
Increased urinary type 1 collagen N-terminal telopeptide level |
|
Hyperamylasemia |
|
Neutrophilia in presence of infection |
|
Falciform retinal fold |
|
Macular exudate |
|
Acute tubulointerstitial nephritis |
|
Decreased forced expiratory flow 25-75% |
|
Sputum eosinophilia |
|
Leptomeningeal enhancement |
|
Abnormal spinal meningeal morphology |
|
Interhemispheric cyst |
|
Enlarged fossa interpeduncularis |
|
Peripheral retinal neovascularization |
|
Subhyaloid hemorrhage |
|
Decreased prothrombin time |
|
Impaired ability to dress oneself |
|
Bidirectional ventricular ectopy |
|
Polymorphic and polytopic ventricular extrasystoles |
|
Abnormal blood 5-methyltetrahydrofolate level |
|
Hypersegmentation of neutrophil nuclei |
|
Abnormal hemoglobin concentration |
|
Oval macrocytosis |
|
Complete heart block with narrow QRS complexes |
|
Midsystolic murmur |
|
Holosystolic murmur |
|
Pyuria |
|
Urachus fistula |
|
Pancreatic hyperplasia |
|
Crystalline corneal dystrophy |
|
Abnormality of folate metabolism |
|
Increased blood folate concentration |
|
Persistent human papillomavirus infection |
|
Elevated haptoglobin level |
|
Palpable purpura |
|
Severe cytomegalovirus infection |
|
Abnormal A-type atrial natriuretic peptide level |
|
Increased circulating galectin-3 level |
|
Fourth heart sound |
|
Abnormality of mentalis muscle |
|
Abnormal migration of corneal endothelium |
|
Polycoria |
|
Subpleural interstitial thickening |
|
Stippled calcification in carpal bones |
|
Testicular microlithiasis |
|
Abnormal blood phosphate concentration |
|
Prolonged whole-blood clotting time |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine |
|
Abnormality of the ocular adnexa |
|
Gastric varix |
|
Intrahepatic portal vein sclerosis |
|
Vaginal hematocele |
|
Transverse vaginal septum |
|
Multifocal subretinal deposits |
|
Abnormal suspensory ligament of lens morphology |
|
Abnormal perifollicular morphology |
|
Umbilicated nodule |
|
Focal epithelial hyperplasia of oral mucosa |
|
Abnormality of the alveolar ridges |
|
Positive direct antiglobulin test |
|
Abnormal renal artery morphology |
|
Ureteral hypoplasia |
|
Reduced activity of N-acetylglucosaminyltransferase II |
|
Reflex asystolic syncope |
|
Hypoautofluorescent macular lesion |
|
Peripapillary chorioretinal atrophy |
|
Macular hemorrhage |
|
Abnormal morphology of the chordae tendinae of the mitral valve |
|
Abnormal tricuspid chordae tendinae morphology |
|
Diffuse optic disc pallor |
|
Ocular melanocytosis |
|
Colonic inertia |
|
Cervical myelopathy |
|
Decreased CSF 5-methyltetrahydrofolate concentration |
|
Clonic seizure |
|
Hemosiderinuria |
|
Esophageal spasms |
|
Deformed forearm bones |
|
Deformed radius |
|
Femoroacetabular impingement |
|
Tendon pain |
|
Scapular exostoses |
|
Pseudoaneurysm |
|
Inspiratory crackles |
|
Reduced circulating vitamin B6 level |
|
Hypoplastic pilosebaceous units |
|
Skin pit |
|
Prominent frontal sinuses |
|
Absence of acoustic reflex |
|
Progressive reticulate hyperpigmentation |
|
Scrotal hyperpigmentation |
|
Hyperpigmented papule |
|
Penile freckling |
|
Anal margin squamous cell carcinoma |
|
Keratoacanthoma |
|
Oligoclonal T cell expansion |
|
Atypical or prolonged hepatitis |
|
Renal corticomedullary cysts |
|
Malformation of the hepatic ductal plate |
|
Thickening of the tubular basement membrane |
|
Abnormal renal insterstitial morphology |
|
Tubular luminal dilatation |
|
Renal atrophy |
|
Abnormal response to glucagon stimulation test |
|
Multiple pancreatic beta-cell adenomas |
|
Periapical bone loss |
|
Multiple impacted teeth |
|
Jaw swelling |
|
Abnormality of enteric nervous system morphology |
|
Prominent floating ribs |
|
Exostoses of the ulna |
|
Exostoses of the radius |
|
Bipartite patella |
|
Sclerosis of middle finger phalanx |
|
Sclerosis of proximal finger phalanx |
|
Elevated plasma cell count |
|
Generalized hypotrichosis |
|
Abnormality of the axillary hair |
|
Delayed pneumatization of the mastoid process |
|
Acromelia |
|
Reduced beta/alpha synthesis ratio |
|
Reduced alpha/beta synthesis ratio |
|
Sickled erythrocytes |
|
HbS hemoglobin |
|
Anomalous tracheal cartilage |
|
Decreased peak expiratory flow |
|
Central nervous system cyst |
|
Carotid cavernous fistula |
|
Abnormal facial vein morphology |
|
Clusters of axonal regeneration |
|
Neonatal epiphyseal stippling |
|
Type 1 fibers relatively smaller than type 2 fibers |
|
Necklace skeletal muscle fibers |
|
Contact dermatitis |
|
Blue urine |
|
Increased proinsulin:insulin ratio |
|
Glial remnants anterior to the optic disc |
|
Hyaloid vascular remnant and retrolental mass |
|
Abnormal renal calyx morphology |
|
Moderate proteinuria |
|
Vesicovaginal fistula |
|
Abnormality of limb bone |
|
Sclerotic foci in hand bones |
|
Sclerotic scapulae |
|
Sclerotic foci within carpal bones |
|
Abnormal lymphocyte proliferation |
|
Cold urticaria |
|
Monoclonal elevation of IgG |
|
Hypotropia |
|
Double elevator palsy |
|
Superior rectus muscle underaction |
|
Intestinal lymphangiectasia |
|
Reduced proportion of CD4+ effector memory T cells |
|
Increased stool alpha1-antitrypsin concentration |
|
Cryptococcal meningitis |
|
Disseminated cutaneous warts |
|
Swollen lip |
|
Cow milk allergy |
|
Myelin outfoldings |
|
Limited interphalangeal movement |
|
Denervation of the diaphragm |
|
Aortic valve prolapse |
|
Subarterial ventricular septal defect |
|
Right ventricular outlet tract obstruction |
|
D-2-hydroxyglutaric aciduria |
|
Metaphyseal chondromatosis of tibia |
|
Metaphyseal chondromatosis of femur |
|
Metaphyseal chondromatosis of radius |
|
Metaphyseal chondromatosis of ulna |
|
Cavernous hemangioma of the face |
|
Elevated right atrial pressure |
|
Granular corneal dystrophy |
|
Macronodular adrenal hyperplasia |
|
Abnormal response to corticotropin releasing hormone stimulation test |
|
Prominent median palatal raphe |
|
Anomalous branches of internal carotid artery |
|
Persistent fetal circulation |
|
Lower eyelid edema |
|
Abnormal cytokine signaling |
|
Chronic active Epstein-Barr virus infection |
|
Peau d'orange |
|
Abnormality of the maxillary sinus |
|
Orbital cyst |
|
Abnormal lacrimal sac morphology |
|
Dacryocystocele |
|
Telangiectasia macularis eruptiva perstans |
|
Focal dermal aplasia/hypoplasia |
|
EEG with photoparoxysmal response |
|
EEG with hyperventilation-induced epileptiform discharges |
|
Visually-induced seizure |
|
Intestinal lymphedema |
|
Secondary hyperaldosteronism |
|
Chylous ascites |
|
Decreased circulating IgG1 level |
|
Reduced transferrin level |
|
Non-small cell lung carcinoma |
|
Anti-GFAP antibody |
|
Chronic calcifying pancreatitis |
|
Insulin-dependent but ketosis-resistant diabetes |
|
Decreased small intestinal mucosa lactase level |
|
Chronic gastritis |
|
Specific pneumococcal antibody deficiency |
|
Multicentric femoral head ossification |
|
CSF polymorphonuclear pleocytosis |
|
Autoamputation |
|
Giant cell hepatitis |
|
Abnormal serum bile acid concentration |
|
Persistent EBV viremia |
|
Diffuse peripheral demyelination |
|
Symmetric peripheral demyelination |
|
Increased urinary copper concentration |
|
Increased circulating copper concentration |
|
Pseudophakia |
|
Retinal arteritis |
|
Anterior chamber cells grade 1+ |
|
Abnormal amplitude of pattern electroretinogram |
|
Abnormal timing of pattern electroretinogram |
|
Anterior chamber flare grade 1+ |
|
Anti-NMDA receptor antibody positivity |
|
CSF anti-NMDA receptor antibody positivity |
|
EEG with temporal sharp slow waves |
|
Abnormal sudomotor regulation |
|
Abnormality of the anterior commissure |
|
Thin corpus callosum |
|
Absent muscle dystrophin expression |
|
Perifascicular muscle fiber atrophy |
|
Aplastic/hypoplastic lacrimal glands |
|
Posterior blepharitis |
|
Brittle scalp hair |
|
Digital constriction ring |
|
Unilateral deafness |
|
Decreased number of sweat glands |
|
Hyperpigmentation in sun-exposed areas |
|
Increased red cell sickling tendency |
|
Reduced beta-hexosaminidase activity |
|
Rosenthal fibers |
|
Startle-induced seizure |
|
Hypoplastic anterior limbs of the internal capsule |
|
Moderate myopia |
|
Inclusion body fibromatosis |
|
Lupus nephritis |
|
Anti-complement component C1q antibody positivity |
|
Anti-nucleoporin 62 antibody positivity |
|
Anti-phosphatidic acid antibody positivity |
|
Lymphocytic infiltration of the colorectal mucosa |
|
Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal |
|
1-2 toe complete cutaneous syndactyly |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe |
|
Aplasia/Hypoplasia of the phalanges of the 4th toe |
|
Aplasia/Hypoplasia of the phalanges of the 5th toe |
|
Aplasia/Hypoplasia of the distal phalanx of the 2nd toe |
|
1-2 toe syndactyly |
|
Linear nevus sebaceous |
|
Nevus spilus |
|
Renal transitional cell carcinoma |
|
Congenital knee dislocation |
|
Moderate hypermetropia |
|
Woolly scalp hair |
|
Congenital posterior occipital alopecia |
|
Widely-spaced incisors |
|
Aortopulmonary collateral arteries |
|
Abnormal right ventricular function |
|
Tonic seizure |
|
Increased circulating very long-chain fatty acid concentration |
|
EEG with occipital epileptiform discharges |
|
Hurthle cell thyroid adenoma |
|
Lymphoid nodular hyperplasia |
|
Intestinal lymphoid nodular hyperplasia |