biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

developmental and epileptic encephalopathy 96


Light for dates

biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing


adult acute respiratory distress syndrome


recurrent infections associated with rare immunoglobulin isotypes deficiency


Absent circulating immunoglobulin kappa chain


attention deficit hyperactivity disorder, inattentive type


hereditary sensory neuropathy-deafness-dementia syndrome


Decreased number of peripheral myelinated nerve fibers


Reduced left ventricular ejection fraction


Elevated left ventricular end-diastolic diameter


deafness, cataract, impaired intellectual development, and polyneuropathy


Rhomboid or triangular shaped 5th finger middle phalanx


hypogonadotropic hypogonadism 15 with or without anosmia


Melanin pigment aggregation in hair shafts


Accumulation of melanosomes in melanocytes


Bowing of limbs due to multiple fractures


severe congenital hypochromic anemia with ringed sideroblasts


ectopia lentis 2, isolated, autosomal recessive


autosomal recessive nonsyndromic hearing loss 39


Prelingual sensorineural hearing impairment


neurodevelopmental disorder with spasticity and poor growth


deafness-small bowel diverticulosis-neuropathy syndrome


familial episodic pain syndrome with predominantly lower limb involvement


leukemia, acute myelocytic, with polyposis coli and colon cancer


Increased circulating renin concentration


Large clumps of pigment irregularly distributed along hair shaft


neurodevelopmental disorder with language delay and variable cognitive abnormalities


neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities


Extra-axial cerebrospinal fluid accumulation


neurodevelopmental disorder with absent speech and movement and behavioral abnormalities


Abnormal nonverbal communicative behavior


intellectual developmental disorder with dysmorphic facies and behavioral abnormalities


ectodermal dysplasia 13, hair/tooth type


myopathy, distal, 7, adult-onset, X-linked


Centrally nucleated skeletal muscle fibers


Muscle fiber cytoplasmatic inclusion bodies


Respiratory insufficiency due to muscle weakness


Increased variability in muscle fiber diameter


Disproportionate short-trunk short stature


Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis


maturity-onset diabetes of the young type 8


intellectual disability, autosomal recessive 5


Increased circulating lactate dehydrogenase concentration


intellectual disability, X-linked, with or without seizures, ARX-related


spondylocostal dysostosis 4, autosomal recessive


Reduced forced expiratory volume in one second


Aplasia of posterior communicating artery


Progressive sensorineural hearing impairment


methylmalonic acidemia with homocystinuria, type cblJ


Elevated circulating propionylcarnitine concentration


Decreased circulating adenosylcobalamin concentration


Decreased circulating methylcobalamin concentration


Decreased proportion of central memory CD4-positive T cells


arthrogryposis-like hand anomaly-sensorineural deafness syndrome


Elevated circulating S-adenosyl-L-methionine concentration


Elevated circulating S-adenosyl-L-homocysteine concentration


Elevated circulating alanine aminotransferase concentration


atrial septal defect, ostium secundum type


hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain


familial isolated hypoparathyroidism due to agenesis of parathyroid gland


Right aortic arch with mirror image branching


intervertebral disk degenerative disorder


Decreased circulating parathyroid hormone level


corticosterone methyloxidase type 2 deficiency


Increased circulating corticosterone level


Increased circulating 18-hydroxycortisone level


Increased circulating lactate concentration


mitochondrial complex 1 deficiency, nuclear type 27


Decreased activity of mitochondrial complex I


multiple exostoses with spastic tetraparesis


lethal congenital contracture syndrome 9


Absence of stomach bubble on fetal sonography


Decreased motor nerve conduction velocity


autosomal recessive nonsyndromic hearing loss 91


autosomal recessive congenital ichthyosis 7


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3


Decreased light- and dark-adapted electroretinogram amplitude


Aplasia/Hypoplasia of the corpus callosum


Decreased level of coenzyme Q10 in skeletal muscle


intellectual disability, autosomal dominant 47


developmental and epileptic encephalopathy, 45


developmental and epileptic encephalopathy, 19


vitamin K-dependent clotting factors, combined deficiency of, type 1


hereditary thrombophilia due to congenital protein C deficiency


Elevated circulating hepatic transaminase concentration


Moyamoya disease with early-onset achalasia


Metacarpal diaphyseal endosteal sclerosis


Metatarsal diaphyseal endosteal sclerosis


hypogonadotropic hypogonadism 4 with or without anosmia


inflammatory skin and bowel disease, neonatal, 1


Disproportionate short-limb short stature


Precocious puberty with Sertoli cell tumor


neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment


intellectual developmental disorder, autosomal recessive 81


neonatal diabetes mellitus with congenital hypothyroidism


Increased circulating thyroglobulin concentration


Anti-thyroid peroxidase antibody positivity


Elevated circulating thyroid-stimulating hormone concentration


ventricular fibrillation, paroxysmal familial, 2


Reduced circulating alpha-1-antitrypsin concentration


intellectual disability, autosomal recessive 34


ophthalmoplegic neuromuscular disorder with abnormal mitochondria


deafness, autosomal dominant 39, with dentinogenesis imperfecta 1


Bilateral sensorineural hearing impairment


Charcot-Marie-Tooth disease X-linked recessive 5


Decreased phosphoribosylpyrophosphate synthetase level


mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant


Decreased activity of mitochondrial complex III


Depletion of mitochondrial DNA in muscle tissue


Decreased activity of mitochondrial complex IV


Ullrich congenital muscular dystrophy 1C


Impaired collagen-induced platelet aggregation


Impaired epinephrine-induced platelet aggregation


celiac disease-epilepsy-cerebral calcification syndrome


epidermolysis bullosa, junctional 6, with pyloric atresia


Aplasia cutis congenita on trunk or limbs


intellectual developmental disorder, autosomal recessive 77


hereditary cryohydrocytosis with reduced stomatin


immunodeficiency 94 with autoinflammation and dysmorphic facies


Elevated circulating amyloid A concentration


Elevated circulating C-reactive protein concentration


Elevated red cell adenosine deaminase activity


myopathy, epilepsy, and progressive cerebral atrophy


EMG: decremental response of compound muscle action potential to repetitive nerve stimulation


developmental and epileptic encephalopathy, 6A


hearing loss, mixed conductive-sensorineural


developmental and epileptic encephalopathy, 71


intellectual disability, autosomal dominant 33


thyroid hormone plasma membrane transport defect


mitochondrial DNA deletion syndrome with progressive myopathy


Increased circulating gonadotropin level


developmental and epileptic encephalopathy, 29


surfactant metabolism dysfunction, pulmonary, 1


Absent bronchoalveolar dimeric surfactant-protein B


hypomagnesemia, seizures, and intellectual disability 2


short-rib thoracic dysplasia 10 with or without polydactyly


Cone-shaped epiphyses of the phalanges of the hand


Hyperdynamic left ventricular ejection fraction


Left ventricular outflow tract obstruction


Undetectable light- and dark-adapted electroretinogram


Glomerular basement membrane lamellation


Decreased circulating complement factor H concentration


Decreased circulating complement factor I concentration


Recurrent streptococcus pneumoniae infections


Decreased circulating complement C3 concentration


Recurrent Haemophilus influenzae infections


Decreased circulating complement factor B concentration


Reduced acetylglucosamine-6-sulfatase activity in cultured fibroblasts


Recurrent upper respiratory tract infections


Reduced respiratory ciliary beating frequency


Unbalanced atrioventricular canal defect


congenitally corrected transposition of the great arteries


Interrupted inferior vena cava with azygous continuation


muscular dystrophy, Hemizygous lethal type


neurodevelopmental disorder with dysmorphic facies and distal limb anomalies


autosomal recessive nonsyndromic hearing loss 16


neuronopathy, distal hereditary motor, type 7A


Abnormal motor nerve conduction velocity


neutropenia, severe congenital, 11, autosomal dominant


intellectual disability, autosomal recessive 43


familial adrenal hypoplasia with absent pituitary luteinizing hormone


Decreased circulating luteinizing hormone level


epidermolysis bullosa, junctional 4, intermediate


spastic paraplegia 88, autosomal dominant


X-linked congenital generalized hypertrichosis


Erlenmeyer flask deformity of the femurs


Congenital hypertrophy of left ventricle


coronary artery disease, autosomal dominant 2


Premature coronary artery atherosclerosis


chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11


congenital insensitivity to pain-hypohidrosis syndrome


intellectual disability, autosomal dominant 52


X-linked hydrocephalus with stenosis of the aqueduct of Sylvius


autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius


chromosome 19q13.11 deletion syndrome, proximal


Central retinal vessel vascular tortuosity


short stature, oligodontia, dysmorphic facies, and motor delay


Elevated urinary formiminoglutamic acid level


Prolonged bleeding after dental extraction


fetal akinesia-cerebral and retinal hemorrhage syndrome


hereditary glaucoma, primary closed-angle


Anterior synechiae of the anterior chamber


Single interphalangeal crease of fifth finger


Enlargement of the distal femoral epiphysis


Cone-shaped epiphysis of the 1st metacarpal


Aplasia of the distal phalanx of the 5th toe


Impaired lymphocyte transformation with phytohemagglutinin


short stature due to partial GHR deficiency


Decreased serum insulin-like growth factor 1


Reduced renal corticomedullary differentiation


migraine with or without aura, susceptibility to, 1


posterior column ataxia-retinitis pigmentosa syndrome


Impaired vibration sensation in the lower limbs


Decreased sensory nerve conduction velocity


Hyperintensity of MRI T2 signal of the spinal cord


immunodeficiency 78 with autoimmunity and developmental delay


Recurrent lower respiratory tract infections


Abnormal thyroid-stimulating hormone level


Hyperintensity of cerebral white matter on MRI


autosomal recessive spastic paraplegia type 78


Abnormal periventricular white matter morphology


cleft lip/palate-ectodermal dysplasia syndrome


Centrilobular ground-glass opacification on pulmonary HRCT


Abnormally loud pulmonic component of the second heart sound


Elevated circulating alkaline phosphatase concentration


Aplasia/Hypoplasia of the phalanges of the hand


Extension of hair growth on temples to lateral eyebrow


muscular dystrophy, congenital, with rapid progression


Delayed early-childhood social milestone development


metaphyseal chondrodysplasia, Spahr type


autosomal recessive nonsyndromic hearing loss 89


Cleavage at junction of stratum corneum and stratum granulosum


chromosome 22q11.2 deletion syndrome, distal


Abnormal cardiovascular system morphology


Severely reduced left ventricular ejection fraction


Abnormal posterior cranial fossa morphology


Abnormal male external genitalia morphology


Absent sperm axoneme central pair complex


Abnormal female external genitalia morphology


Abnormal circulating luteinizing hormone concentration


Elevated circulating follicle stimulating hormone level


Abnormality of circulating cortisol level


ceroid lipofuscinosis, neuronal, 4 (Kufs type)


Increased neuronal autofluorescent lipopigment


Abnormality of extrapyramidal motor function


Fingerprint intracellular accumulation of autofluorescent lipopigment storage material


Vascular granular osmiophilic material deposition


Rectilinear intracellular accumulation of autofluorescent lipopigment storage material


Curvilinear intracellular accumulation of autofluorescent lipopigment storage material


progressive scapulohumeroperoneal distal myopathy


Decreased mucosal sucrase-isomaltase activity


Elevated circulating luteinizing hormone level


Absence of secondary sex characteristics


Gonadal dysgenesis with female appearance, male


medium chain 3-ketoacyl-Coa thiolase deficiency


branched-chain keto acid dehydrogenase kinase deficiency


Decreased circulating alkaline phosphatase activity


Decreased serum testosterone concentration


psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome


Increased circulating creatine kinase MB isoform


Elevated circulating apolipoprotein A-II concentration


Decreased circulating apolipoprotein A-I concentration


Spinocerebellar tract disease in lower limbs


Decreased circulating alpha-mannosidase activity


Reduced leukocyte alpha-mannosidase activity


combined oxidative phosphorylation defect type 11


Elevated circulating alpha-fetoprotein concentration


Elevated circulating creatinine concentration


palmoplantar keratoderma, punctate type ib


hereditary hypophosphatemic rickets with hypercalciuria


Abnormal circulating calcium concentration


Enlargement of the costochondral junction


Increased left ventricular end-diastolic volume


Curved linear dimple below the lower lip


autosomal recessive Kenny-Caffey syndrome


Delayed closure of the anterior fontanelle


Tetralogy of Fallot with pulmonary stenosis


Decreased circulating ACTH concentration


systemic primary carnitine deficiency disease


Decreased circulating carnitine concentration


Elevated circulating aspartate aminotransferase concentration


Mixed demyelinating and axonal polyneuropathy


High nonceruloplasmin-bound serum copper


Decreased circulating ceruloplasmin concentration


Increased circulating copper concentration


Parkinsonism with favorable response to dopaminergic medication


Bilateral tonic-clonic seizure with focal onset


intellectual developmental disorder, autosomal recessive 72


split-foot malformation-mesoaxial polydactyly syndrome


Abnormality of pattern visual evoked potentials


Prolonged somatosensory evoked potentials


porencephaly-microcephaly-bilateral congenital cataract syndrome


proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome


Mottled pigmentation of photoexposed areas


3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome


Aplasia/Hypoplasia involving the central nervous system


thrombophilia, familial, due to decreased release of tissue plasminogen activator


autosomal dominant nonsyndromic hearing loss 5


hemosiderosis, pulmonary, with deficiency of gamma-a globulin


intellectual disability, autosomal recessive 64


erythrokeratodermia variabilis et progressiva 7


2nd-5th toe middle phalangeal hypoplasia


Contracture of the proximal interphalangeal joint of the 5th finger


Elevated circulating pristanic acid concentration


restless legs syndrome, susceptibility to, 1


gaze palsy, familial horizontal, with progressive scoliosis, 2


Reduced brain N-acetyl aspartate level by MRS


neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies


Alagille syndrome due to a NOTCH2 point mutation


sulfide quinone oxidoreductase deficiency


lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis


Increased circulating immunoglobulin concentration


Reduced erythrocyte gamma-glutamyl cysteine synthetase activity


Elevated urinary gamma-glutamylcysteine level


hearing loss, autosomal recessive 118, with cochlear aplasia


Congenital sensorineural hearing impairment


developmental and epileptic encephalopathy 94


Status epilepticus without prominent motor symptoms


autosomal recessive nonsyndromic hearing loss 74


Excessive bleeding from superficial cuts


familial idiopathic inflammatory myopathy


Cardioneuromyopathy with hyaline masses and nemaline rods


Cervical vertebral bodies with decreased anteroposterior diameter


ectodermal dysplasia-sensorineural deafness syndrome


short chain acyl-CoA dehydrogenase deficiency


Aplasia/Hypoplasia of the phalanges of the toes


Aplasia/Hypoplasia involving the carpal bones


Aplasia/Hypoplasia involving the metacarpal bones


Anterior concavity of thoracic vertebrae


intellectual disability, autosomal recessive 42


Severely increased total eosinophil count


Increased erythrocyte protoporphyrin concentration


epidermolysis bullosa, junctional 3B, severe


neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities


hydrocephalus, congenital, 3, with brain anomalies


Recurrent Staphylococcus aureus infections


Atrophy/Degeneration affecting the brainstem


Absence of renal corticomedullary differentiation


symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch


Cone-shaped epiphyses of the middle phalanges of the hand


Aplasia/Hypoplasia of the middle phalanges of the hand


intellectual disability, autosomal recessive 18


optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant


mitochondrial complex III deficiency nuclear type 2


congenital dyserythropoietic anemia type type 1B


Recurrent upper and lower respiratory tract infections


neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities


foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome


Chaotic rapid conjugate ocular movements


persistent hyperplastic primary vitreous


DDOST-congenital disorder of glycosylation


Kleefstra syndrome 2

Autosomal dominant germline de novo mutation


Anomalous origin of right coronary artery from the pulmonary artery


Interphalangeal joint contracture of finger


neurodevelopmental disorder with speech delay and variable ocular anomalies


combined oxidative phosphorylation deficiency 37


Renal juxtaglomerular cell hypertrophy/hyperplasia


melanoma, malignant familial intraocular


Abnormal circulating ferritin concentration


Elevated circulating hepcidin concentration


Chromosomal breakage induced by crosslinking agents


epidermolysis bullosa, junctional 5A, intermediate


Perifoveal ring of hyperautofluorescence


corneal dystrophy-perceptive deafness syndrome


immunodeficiency 97 with autoinflammation


Elevated double-negative T cell proportion


neonatal-onset encephalopathy with rigidity and seizures


Cytochrome C oxidase-negative muscle fibers


hypohidrosis with abnormal palmar dermal Ridges


autosomal recessive limb-girdle muscular dystrophy type 2D


neurofacioskeletal syndrome with or without renal agenesis


Hypoplasia of the capital femoral epiphysis


neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter


colobomatous optic disc-macular atrophy-chorioretinopathy syndrome


neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities


Narrow vertebral interpedicular distance


sulfite oxidase deficiency due to molybdenum cofactor deficiency type B


sulfite oxidase deficiency due to molybdenum cofactor deficiency


autosomal recessive nonsyndromic hearing loss 1A


familial congenital nasolacrimal duct obstruction


Increased circulating androstenedione concentration


microcephaly 27, primary, autosomal dominant


lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome


arthrogryposis, distal, with impaired proprioception and touch


autosomal recessive spondylometaphyseal dysplasia, Megarbane type


spondyloepimetaphyseal dysplasia, Strudwick type


hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency


Abnormal urine sebacic acid concentration


canine teeth, absence of upper permanent


triphalangeal thumb with double phalanges


Complete duplication of distal phalanx of the thumb


intellectual disability, autosomal recessive 31


chromosome Xp11.23-p11.22 duplication syndrome


developmental delay with variable intellectual disability and dysmorphic facies


autosomal recessive congenital ichthyosis 9


Reduced tissue 3-methylglutaconyl-CoA hydratase activity


isolated focal cortical dysplasia type II


Decreased small intestinal mucosa lactase level


Partial absence of specific antibody response to tetanus vaccine


arterial calcification, generalized, of infancy, 2


neurodevelopmental disorder with or without early-onset generalized epilepsy


mitochondrial complex 1 deficiency, nuclear type 28


recessive aplasia cutis congenita of limbs


spondyloepimetaphyseal dysplasia, matrilin-3 type


autosomal dominant nonsyndromic hearing loss 36


Emery-Dreifuss muscular dystrophy 3, autosomal recessive


Left superior vena cava draining to coronary sinus


autosomal recessive ataxia due to ubiquinone deficiency


Increased intramyocellular lipid droplets


congenital heart defects, multiple types, 4


encephalopathy due to hydroxykynureninuria


Elevated urinary 3-hydroxykynurenine level


intellectual disability, autosomal recessive 12


azoospermia, obstructive, with nephrolithiasis


wooly hair-palmoplantar keratoderma syndrome


Shortening of all distal phalanges of the fingers


Calcification of the auricular cartilage


Premature fusion of phalangeal epiphyses


hypogonadotropic hypogonadism 13 with or without anosmia


Decreased circulating follicle stimulating hormone concentration


autoinflammatory syndrome, familial, X-linked, Behcet-like 2


Increased circulating interleukin 6 concentration


neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination


Aplasia of the distal phalanx of the 3rd finger


Aplasia of the distal phalanx of the 2nd finger


spondylocostal dysostosis 3, autosomal recessive


Supernumerary vertebral ossification centers


Contracture of the proximal interphalangeal joint of the 2nd finger


tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities


scoliosis, isolated, susceptibility to, 1


generalized epilepsy with febrile seizures plus, type 7


encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10


neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures


Leber-like hereditary optic neuropathy, autosomal recessive 1


hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase


PLIN1-related familial partial lipodystrophy


congenital myopathy 2b, severe infantile, autosomal recessive


Respiratory failure requiring assisted ventilation


neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities


epilepsy, juvenile absence, susceptibility to, 1


Bilateral tonic-clonic seizure on awakening


arhinia, choanal atresia, and microphthalmia


congenital hypothalamic hamartoma syndrome


autism spectrum disorder - epilepsy - arthrogryposis syndrome


Decreased number of large peripheral myelinated nerve fibers


fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement


congenital fibrosis of extraocular muscles


Nonprogressive restrictive external ophthalmoplegia


autosomal recessive nonsyndromic hearing loss 40


developmental and epileptic encephalopathy, 52


ALG12-congenital disorder of glycosylation


neuronopathy, distal hereditary motor, autosomal recessive 5


palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome


mitochondrial complex IV deficiency, nuclear type 22


Elevated circulating dodecanoylcarnitine concentration


Elevated circulating tetradecanoylcarnitine concentration


Increased urine alpha-ketoglutarate concentration


Increased circulating pyruvate concentration


Peripheral tractional retinal detachment


Dextrotransposition of the great arteries


congenital partial pulmonary venous return anomaly


congenital total pulmonary venous return anomaly


intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency


familial hyperthyroidism due to mutations in TSH receptor


Decreased thyroid-stimulating hormone level


Thinning of outer muscular layer of small bowel


microcephaly 8, primary, autosomal recessive


brain dopamine-serotonin vesicular transport disease


Elevated urinary 5-hydroxyindoleacetic acid level


Mildly reduced left ventricular ejection fraction


megacystis-microcolon-intestinal hypoperistalsis syndrome 5


Focal impaired awareness automatism seizure


rhizomelic chondrodysplasia punctata type 5


Swan neck-like deformities of the fingers


mitochondrial dna depletion syndrome 16B (neuroophthalmic type)


chromosome 1p36 deletion syndrome, proximal


autosomal recessive limb-girdle muscular dystrophy type 2I


Ventricular preexcitation with multiple accessory pathways


hypogonadotropic hypogonadism 16 with or without anosmia


congenital short bowel syndrome, autosomal recessive


noduli Cutanei, multiple, with urinary tract abnormalities


methylmalonic acidemia due to transcobalamin receptor defect


neurodevelopmental disorder with absent language and variable seizures


arthrogryposis, renal dysfunction, and cholestasis 1


Hepatic melanin-like lysosomal pigmentation


scapuloperoneal spinal muscular atrophy, autosomal recessive


peroxisome biogenesis disorder 11A (Zellweger)


polycystic kidney disease 6 with or without polycystic liver disease


maternal uniparental disomy of chromosome 20


neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction


combined immunodeficiency due to STK4 deficiency


vitamin K deficiency hemorrhagic disease


arrhythmogenic right ventricular dysplasia, familial, 14


Small epiphyses of the phalanges of the hand


Childhood onset short-limb short stature


X-linked intellectual disability, Cabezas type


congenital lipoid adrenal hyperplasia due to STAR deficency


severe combined immunodeficiency due to IKK2 deficiency


Decreased mitogen-induced T-cell proliferation


intellectual disability, autosomal recessive 6


autosomal recessive nonsyndromic hearing loss 83


catecholaminergic polymorphic ventricular tachycardia 2


developmental and epileptic encephalopathy, 54


intellectual developmental disorder, X-linked, syndromic, Pilorge type


hypogonadotropic hypogonadism 11 with or without anosmia


cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3


pituitary dwarfism with large sella turcica


congenital contractures of the limbs and face, hypotonia, and developmental delay


epidermolysis bullosa simplex 2E, with migratory circinate erythema


duodenal ulcer due to antral G-cell hyperfunction


frontotemporal dementia and/or amyotrophic lateral sclerosis 5


EEG with irregular generalized spike and wave complexes


telangiectasia, hereditary hemorrhagic, type 2


arteriovenous malformations of the brain


retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations


neuropathy, hereditary motor and sensory, type VIc, with optic atrophy


Deficient excision of UV-induced pyrimidine dimers in DNA


Defective DNA repair after ultraviolet radiation damage


microcephaly 5, primary, autosomal recessive


neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities


neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss


autosomal recessive nonsyndromic hearing loss 102


isolated growth hormone deficiency type II


deafness, congenital, and adult-onset progressive leukoencephalopathy


Profound sensorineural hearing impairment


Hypointensity of cerebral white matter on MRI


gastric adenocarcinoma and proximal polyposis of the stomach


polyposis of gastric fundus without polyposis coli


ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome


developmental delay, behavioral abnormalities, and neuropsychiatric disorders


developmental and epileptic encephalopathy 101


autosomal dominant nonsyndromic hearing loss 25


early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome


Antibody Deficiency due to Defect in CD19


Decreased class-switched memory B cell proportion


Complete or near-complete absence of specific antibody response to tetanus vaccine


Increased transitional B cell proportion


Increased circulating brain natriuretic peptide concentration


intellectual disability, autosomal recessive 50


erythrokeratodermia variabilis et progressiva 5


intellectual disability-balding-patella luxation-acromicria syndrome


Impaired ristocetin-induced platelet aggregation


autosomal dominant limb-girdle muscular dystrophy type 1H


non-spherocytic hemolytic anemia due to hexokinase deficiency


diffuse idiopathic skeletal hyperostosis


ALG8-congenital disorder of glycosylation


Perimembranous ventricular septal defect


congenital stationary night blindness 1H


intellectual developmental disorder, autosomal dominant 74


basal ganglia calcification, idiopathic, 7, autosomal recessive


Cerebellar dentate nucleus calcification


factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor


short-rib thoracic dysplasia 11 with or without polydactyly


1-5 finger complete cutaneous syndactyly


Increased urinary disaccharide excretion


Childhood-onset short-trunk short stature


acromegaloid changes, cutis verticis gyrata, and corneal leukoma


combined immunodeficiency due to moesin deficiency


epidermolysis bullosa, junctional 2B, severe


spondyloepimetaphyseal dysplasia, Guo-Campeau type


Elevated bronchoalveolar lavage fluid lymphocyte proportion


Elevated bronchoalveolar lavage fluid neutrophil proportion


Charcot-Marie-Tooth disease, demyelinating, type 1J


Elevated CSF D-2-hydroxyglutaric acid concentration


Elevated CSF L-2-hydroxyglutaric acid concentration


neuropathy, hereditary sensory and autonomic, type 2A


combined oxidative phosphorylation deficiency 56


Elevated circulating desmosterol concentration


Abnormal circulating cholesterol concentration


ulnar agenesis and endocardial fibroelastosis


intellectual disability, autosomal dominant 24


epidermolysis bullosa with congenital localized absence of skin and deformity of nails


hypotonia, infantile, with psychomotor retardation and characteristic facies 1


Abnormal granulocytopoietic cell morphology


neurodegenerative syndrome due to cerebral folate transport deficiency


Nontuberculous mycobacterial pulmonary infection


hypoparathyroidism, familial isolated, 2


Impaired arachidonic acid-induced platelet aggregation


Impaired ADP-induced platelet aggregation


muscular dystrophy, limb-girdle, autosomal dominant 4


autosomal recessive limb-girdle muscular dystrophy type 2R1


Elevated circulating dihydroxyphenylacetic acid concentration


Lack of pupillary response to hydroxyamphetamine


Reduced circulating dopamine beta-hydroxylase activity


epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency


Abnormal dermoepidermal hemidesmosome morphology


hydrocephalus, congenital communicating, 1


porencephaly-cerebellar hypoplasia-internal malformations syndrome


ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12


blepharophimosis - intellectual disability syndrome, Ohdo type


Abnormality of urine catecholamine level


Severe demyelination of the white matter


alopecia-intellectual disability syndrome 4


leukoencephalopathy with vanishing white matter 3


Anti-platelet antigen antibody positivity


obesity due to prohormone convertase I deficiency


Elevated circulating proinsulin concentration


intellectual developmental disorder, X-linked 113


Increased mean corpuscular hemoglobin concentration


autosomal dominant nonsyndromic hearing loss 53


neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline


Substantia nigra hypointensity on susceptibility-weighted imaging


Globus pallidus hypointensity on susceptibility-weighted imaging


autosomal recessive nonsyndromic hearing loss 70


autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant


Increased circulating interleukin 1beta concentration


Charcot-Marie-Tooth disease dominant intermediate D


Generalized non-convulsive status epilepticus without coma


infantile hypertrophic cardiomyopathy due to MRPL44 deficiency


Respiratory insufficiency due to defective ciliary clearance


megalencephalic leukoencephalopathy with subcortical cysts 4, remitting


Diminished circulating hyaluronidase activity


PGM1-congenital disorder of glycosylation


Abnormal isoelectric focusing of serum transferrin


Loss of subcutaneous adipose tissue in limbs


autosomal dominant nonsyndromic hearing loss 23


Charcot-Marie-Tooth disease axonal type 2Z


Decreased amplitude of sensory action potentials


isolated growth hormone deficiency type III


familial isolated clinodactyly of fingers


Aplasia of the distal phalanx of the 4th toe


Duplication of the distal phalanx of the 3rd toe


atrial septal defect, sinus venosus type


Left ventricular noncompaction cardiomyopathy


combined oxidative phosphorylation deficiency 44


Abnormal basal ganglia MRI signal intensity


leukoencephalopathy with vanishing white matter 2


recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome


Elevated circulating tetradecenoylcarnitine concentration


Elevated circulating aldolase concentration


Elevated circulating acylcarnitine concentration


hypogonadotropic hypogonadism 25 with anosmia


Hypothalamic gonadotropin-releasing hormone deficiency


basal ganglia calcification, idiopathic, 10, autosomal recessive


Elevated circulating parathyroid hormone level


neurodegeneration and seizures due to copper transport defect


Abnormal circulating copper concentration


Abnormal circulating ceruloplasmin concentration


autosomal recessive limb-girdle muscular dystrophy type R18


granulocytopenia with immunoglobulin abnormality


Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine


intellectual developmental disorder with speech delay, autism, and dysmorphic facies


intellectual disability, autosomal recessive 52


developmental and epileptic encephalopathy, 27


Decreased circulating renin concentration


carbamoyl phosphate synthetase I deficiency disease


Anti-citrullinated protein antibody positivity


inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3


Elevated circulating sitosterol concentration


pancreatic hypoplasia-diabetes-congenital heart disease syndrome


autosomal recessive nonsyndromic hearing loss 66


Absent pigmentation of the ventral chest


upper limb defect-eye and ear abnormalities syndrome


mitochondrial complex III deficiency nuclear type 9


Reduced circulating progranulin concentration


exostoses-anetodermia-brachydactyly type E syndrome


mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive


mitochondrial complex V (ATP synthase) deficiency, nuclear type 1


Decreased activity of mitochondrial ATP synthase complex


AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome


Abnormal curvature of the vertebral column


cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome


Juvenile type ovarian granulosa cell tumor


combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia


myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis


microcephaly-cervical spine fusion anomalies syndrome


chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase


Anti-neuromuscular Junction acetylcholine receptor antibody positivity


congenital stationary night blindness autosomal dominant 2


Elevated erythrocyte AICA-ribotide concentration


Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level


epidermolysis bullosa, junctional 3A, intermediate


Contracture of the proximal interphalangeal joint of the 4th finger


autosomal dominant polycystic liver disease


intellectual developmental disorder with cardiac defects and dysmorphic facies


rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome


Reduced circulating growth hormone concentration


Restricted or repetitive behaviors or interests


Eversion of lateral third of lower eyelids


Aplasia/Hypoplasia of the cerebral white matter


Flattened, squared-off epiphyses of tubular bones


intellectual developmental disorder with severe speech and ambulation defects


blepharophimosis - intellectual disability syndrome, SBBYS type


congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome


Elevated circulating catecholamine level


intellectual developmental disorder, autosomal recessive 68


Glomerular subepithelial immune-complex deposits


Focal aware cognitive seizure with forced thinking


Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena


Focal aware sensory seizure with auditory features


hyper-IgE recurrent infection syndrome 4A, autosomal dominant


arthrogryposis, Perthes disease, and upward gaze palsy


autosomal recessive congenital ichthyosis 11


autosomal dominant nonsyndromic hearing loss 20


benign concentric annular macular dystrophy


familial apolipoprotein gene cluster deletion syndrome


cataract, ataxia, short stature, and intellectual disability


factor VIII and Factor IX, combined deficiency of


encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1


Abnormal activity of mitochondrial respiratory chain


short stature due to primary acid-labile subunit deficiency


proteasome-associated autoinflammatory syndrome 4


glycosylphosphatidylinositol biosynthesis defect 15


myasthenic syndrome, congenital, 1B, fast-channel


myeloproliferative disorder, chronic, with eosinophilia


neurodevelopmental disorder with severe motor impairment and absent language


neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties


Multiple muscular ventricular septal defects


DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1


fibrosis of extraocular muscles, congenital, 3c


Restrictive partial external ophthalmoplegia


childhood encephalopathy due to thiamine pyrophosphokinase deficiency


Aplasia/Hypoplasia of the middle phalanges of the toes


Thin proximal phalanges with broad epiphyses of the hand


intellectual developmental disorder, autosomal recessive 71


Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities


severe X-linked mitochondrial encephalomyopathy


frontonasal dysplasia with alopecia and genital anomaly


myoglobinuria, acute recurrent, autosomal recessive


neurodegeneration, childhood-onset, with cerebellar atrophy


neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset


polymicrogyria, bilateral perisylvian, autosomal recessive


RFT1-congenital disorder of glycosylation


Emery-Dreifuss muscular dystrophy 7, autosomal dominant


autosomal recessive nonsyndromic hearing loss 104


Degeneration of the lateral corticospinal tracts


cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4


Reduced circulating interleukin 10 concentration


Reduced circulating interleukin 27 concentration


Reduced circulating interleukin 17A concentration


Reduced circulating interleukin 21 concentration


Reduced circulating interleukin 22 concentration


Reduced circulating interleukin 23 concentration


autoimmune lymphoproliferative syndrome type 4


chromosome 15q13.3 microdeletion syndrome


polyhydramnios, megalencephaly, and symptomatic epilepsy


Chronic partially decreased circulating IgG1


Decreased specific pneumococcal antibody level


Decreased circulating total IgG concentration


hypogonadotropic hypogonadism 12 with or without anosmia


Decreased circulating gonadotropin concentration


hyperphenylalaninemia due to DNAJC12 deficiency


neuronopathy, distal hereditary motor, autosomal dominant 11


Decreased compound muscle action potential amplitude


Macrodontia of permanent maxillary central incisor


combined immunodeficiency due to OX40 deficiency


Rubinstein-Taybi syndrome due to EP300 haploinsufficiency


Charcot-Marie-Tooth disease axonal type 2CC


neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language


intellectual disability, autosomal recessive 7


Eosinophilic infiltration of the esophagus


immunodeficiency 82 with systemic inflammation


trigonocephaly-short stature-developmental delay syndrome


immune dysregulation, autoimmunity, and autoinflammation


Decreased circulating complement C4 concentration


Abnormal circulating C-reactive protein concentration


Increased circulating interleukin 8 concentration


granulomatous disease, chronic, autosomal recessive, 5


immunodeficiency due to ficolin3 deficiency


neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2


neonatal ichthyosis-sclerosing cholangitis syndrome


intellectual developmental disorder with or without epilepsy or cerebellar ataxia


Krabbe disease due to saposin A deficiency


peroxisome biogenesis disorder 10A (Zellweger)


classic dopamine transporter deficiency syndrome


Increased CSF homovanillic acid concentration


sinoatrial node dysfunction and deafness


lethal congenital glycogen storage disease of heart


glycogen storage disease due to lactate dehydrogenase H-subunit deficiency


Periventricular white matter hyperintensities


myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy


Type 1 fibers relatively smaller than type 2 fibers


Persistent asymmetrical tonic neck reflex


neuronopathy, distal hereditary motor, autosomal dominant 8


Abnormality of chorioretinal pigmentation


growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome


oculoauriculovertebral spectrum with radial defects


proteasome-associated autoinflammatory syndrome 2


Anti-beta-2-Glycoprotein I IgG antibody positivity


onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome


Abnormality of alkaline phosphatase level


diabetes insipidus, nephrogenic, autosomal


Parkinson disease 5, autosomal dominant, susceptibility to


immunoskeletal dysplasia with neurodevelopmental abnormalities


Abnormally low T cell receptor excision circle level


Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency


Recurrent mycobacterium avium complex infections


autosomal recessive nonsyndromic hearing loss 76


peroxisome biogenesis disorder 12A (Zellweger)


Elevated circulating long chain fatty acid concentration


short stature and microcephaly with genital anomalies


Abnormal light- and dark-adapted electroretinogram


Reduced hepatic phosphorylase kinase activity


autosomal dominant nonsyndromic hearing loss 68


Reduced tissue fructose-1,6-bisphosphatase activity


posterior polymorphous corneal dystrophy 3


ataxia, intention tremor, and hypotonia syndrome, childhood-onset


Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio


Reduced urine tetrahydrocortisol plus 5-alpha-THF to tetrahydrocortisone ratio


DYRK1A-related intellectual disability syndrome


microcephaly 2, primary, autosomal recessive, with or without cortical malformations


DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1


Decreased circulating IgG2 concentration


generalized epilepsy with febrile seizures plus, type 4


THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome


TNF receptor 1-associated periodic fever syndrome


nonarteritic anterior ischemic optic neuropathy, susceptibility to


non-arteritic anterior ischemic optic neuropathy


STT3B-congenital disorder of glycosylation


camptodactyly syndrome, Guadalajara type 3


isolated neonatal sclerosing cholangitis


spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia


congenital disorder of glycosylation type 1EE with or without immunodeficiency


Abnormal class-switched memory B cell proportion


Reduced antigen-specific T cell proliferation


Abnormal total natural killer cell count


Depletion of components of the alternative complement pathway


myeloproliferative disease, autosomal recessive


syndromic X-linked intellectual disability Hedera type


xerosis and growth failure with immune and pulmonary dysfunction syndrome


Elevated circulating phytanic acid concentration


developmental and epileptic encephalopathy 111


Hirschsprung disease, cardiac defects, and autonomic dysfunction


congenital generalized lipodystrophy type 4


global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome


combined oxidative phosphorylation defect type 26


Right ventricular outlet tract obstruction


Duplication of the distal phalanx of hand


dystrophic epidermolysis bullosa pruriginosa


autosomal recessive congenital ichthyosis 10


amelia and terminal transverse hemimelia


Ehlers-Danlos syndrome, fibronectinemic type


spinocerebellar ataxia, autosomal recessive 26


holoprosencephaly 12 with or without pancreatic agenesis


Muscle fiber granulofilamentous inclusion bodies


Aplasia of the abdominal wall musculature


intellectual developmental disorder with paroxysmal dyskinesia or seizures


neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1


Emery-Dreifuss muscular dystrophy 2, autosomal dominant


Decreased cervical spine flexion due to contractures of posterior cervical muscles


neuropathy, hereditary motor and sensory, type 6B


mitochondrial DNA depletion syndrome 16 (hepatic type)


maturity-onset diabetes of the young type 14


Abnormal circulating amino acid concentration


cognitive impairment with or without cerebellar ataxia


Impaired ability to form peer relationships


intellectual developmental disorder, autosomal recessive 74


mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency


Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level


Decreased activity of the pyruvate dehydrogenase complex


language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia


radius, aplasia of, with cleft lip/palate


Abnormal circulating creatine kinase concentration


Premature birth following premature rupture of fetal membranes


microcephaly 19, primary, autosomal recessive


X-linked lymphoproliferative disease due to XIAP deficiency


Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita


polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1


Charcot-Marie-Tooth disease axonal type 2L


Patent ductus arteriosus after premature birth


Bilateral superior vena cava with no bridging vein


progeria-short stature-pigmented nevi syndrome


growth hormone insensitivity with immune dysregulation 1, autosomal recessive


intellectual disability, X-linked, syndromic 33


familial scaphocephaly syndrome, McGillivray type


hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome


primary hypergonadotropic hypogonadism-partial alopecia syndrome


combined oxidative phosphorylation deficiency 49


mitochondrial complex II deficiency, nuclear type 1


Charcot-Marie-Tooth disease, demyelinating, IIA 1I


Impairment of activities of daily living


thrombophilia due to protein C deficiency, autosomal dominant


thrombophilia due to protein S deficiency, autosomal recessive


spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type


Decreased naive CD4-positive T cell proportion


Decreased unswitched memory B cell proportion


spondyloepiphyseal dysplasia, Reardon type


multiple mitochondrial dysfunctions syndrome 2


Decreased activity of mitochondrial respiratory chain


Reduced tissue glycine cleavage enzyme activity


neurodevelopmental disorder with epilepsy and brain atrophy


transient hypogammaglobulinemia of infancy


Ulnar deviation of the hand or of fingers of the hand


polyposis, intestinal, scattered and discrete


spondyloepimetaphyseal dysplasia, di rocco type


Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine


muscular dystrophy-dystroglycanopathy type B6


neurodevelopmental disorder with speech impairment and with or without seizures


Accumulation of lipid droplets in small-bowel enterocytes


Diminished tissue dihydropteridine reductase activity


hyperphenylalaninemia due to tetrahydrobiopterin deficiency


precocious puberty, central, 2

Autosomal dominant inheritance with maternal imprinting


Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material


hyperammonemia due to N-acetylglutamate synthase deficiency


Reduced hepatic N-acetylglutamate synthase activity


solitary median maxillary central incisor syndrome


retinitis pigmentosa with or without situs inversus


cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies


autosomal recessive limb-girdle muscular dystrophy type 2Q


autosomal recessive limb-girdle muscular dystrophy type 2T


high myopia-sensorineural deafness syndrome


Elevated circulating D-dimer concentration


absent radius-anogenital anomalies syndrome


mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency


muscular dystrophy, limb-girdle, autosomal recessive 23


Elevated muscle fiber laminin alpha 5 expression


Internally nucleated skeletal muscle fibers


familial cold autoinflammatory syndrome 4


blistering, acantholytic, of oral and laryngeal mucosa


Absence of bactericidal oxidative respiratory burst in phagocytes


autosomal recessive nonsyndromic hearing loss 77


myopathy, congenital, with fiber-type disproportion, X-linked


neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures


Decreased expression of GPI-anchored proteins on the cell surface


posterior polymorphous corneal dystrophy 1


Malformation of the hepatic ductal plate


familial juvenile hyperuricemic nephropathy type 2


Abnormality of the fifth metatarsal bone


intellectual developmental disorder, X-linked 111


pyloric stenosis, infantile hypertrophic, 1


Increased level of propylene glycol in blood


X-linked myotubular myopathy-abnormal genitalia syndrome


autosomal recessive early-onset Parkinson disease 23


intrinsic factor and r binder, combined congenital deficiency of


vertebral, cardiac, renal, and limb defects syndrome 3


anomalous left coronary artery from the pulmonary artery


neonatal intrahepatic cholestasis due to citrin deficiency


telangiectasia macularis eruptiva perstans


Recurrent infections in infancy and early childhood


congenital smooth muscle hamartoma, with or without hemihypertrophy


cortical dysplasia, complex, with other brain malformations 12


combined oxidative phosphorylation deficiency 43


amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis


leukodystrophy, hypomyelinating, 19, transient infantile


neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities


pituitary hormone deficiency, combined or isolated, 8


glycogen storage disorder due to hepatic glycogen synthase deficiency


epilepsy, early-onset, 3, with or without developmental delay


Bilateral single transverse palmar creases


adrenocortical unresponsiveness to ACTH with postreceptor defect


malposition of teeth with or without hypodontia/oligodontia


syndromic X-linked intellectual disability 7


Acrodysostosis 1 with or without hormone resistance


Decreased growth hormone responses to growth hormone-releasing hormone challenge


Elevated circulating calcitonin concentration


leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome


hyperinsulinemic hypoglycemia, familial, 4


leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome


Nijmegen breakage syndrome-like disorder


Chromosomal breakage induced by ionizing radiation


autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency


Lymphocytic infiltration of the colorectal mucosa


epidermolysis bullosa simplex 2A, generalized severe


distal myopathy with posterior leg and anterior hand involvement


combined oxidative phosphorylation defect type 27


vertebral, cardiac, tracheoesophageal, renal, and limb defects


unilateral aplasia of the mullerian ducts


hyperphosphatasia with intellectual disability syndrome 1


developmental and epileptic encephalopathy, 12


cortical dysplasia, complex, with other brain malformations 10


mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)


developmental and epileptic encephalopathy, 81


epidermolysis bullosa simplex 1B, generalized intermediate


Pierre Robin syndrome-faciodigital anomaly syndrome


Easily subluxated first metacarpophalangeal joints


developmental and epileptic encephalopathy 108


Bilateral tonic-clonic seizure with generalized onset


intellectual disability, X-linked, syndromic, 35


lymphedema-cerebral arteriovenous anomaly syndrome


mitochondrial DNA depletion syndrome 20 (mngie type)


developmental and epileptic encephalopathy 104


spongiform encephalopathy with neuropsychiatric features


coloboma of macula-brachydactyly type B syndrome


Decreased circulating antimullerian hormone circulation


autoimmune lymphoproliferative syndrome type 1


Increased HLA DR+ CD4+ T cell proportion


autosomal recessive nonsyndromic hearing loss 25


convulsive disorder, familial, with prenatal or early onset


mitochondrial complex III deficiency nuclear type 8


Absent fourth finger distal interphalangeal crease


X-linked sideroblastic anemia with ataxia


primary immunodeficiency syndrome due to p14 deficiency


Delayed somatosensory central conduction time


Elevated circulating bile alcohol concentration


developmental delay, impaired speech, and behavioral abnormalities, with or without seizures


neurodegeneration with brain iron accumulation 4


Eye of the tiger anomaly of globus pallidus


autosomal recessive nonsyndromic hearing loss 20


congenital brain dysgenesis due to glutamine synthetase deficiency


intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies


dandy-walker malformation with occipital cephalocele, autosomal dominant


developmental and epileptic encephalopathy, 4


nephrogenic diabetes insipidus-intracranial calcification syndrome


psychomotor retardation, epilepsy, and craniofacial dysmorphism


combined oxidative phosphorylation deficiency 50


combined oxidative phosphorylation deficiency 55


thumb stiffness-brachydactyly-intellectual disability syndrome


syndromic X-linked intellectual disability 34


Synostosis of the proximal phalanx of the thumb with the 1st metacarpal


primary intraosseous venous malformation


Periosteal thickening of long tubular bones


developmental and epileptic encephalopathy, 38


autosomal recessive nonsyndromic hearing loss 63


neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity


Weakness of long finger extensor muscles


epidermodysplasia verruciformis, susceptibility to, 4


Increased proportion of exhausted T cells


Subsarcolemmal accumulations of abnormally shaped mitochondria


Elevated circulating thymidine concentration


Elevated circulating deoxyuridine concentration


Reduced tissue thymidine phosphorylase activity


factor V and factor VIII, combined deficiency of, type 1


Charcot-Marie-Tooth disease X-linked recessive 3


microphthalmia, isolated, with coloboma 9


congenital nephrotic syndrome, Finnish type


epidermolytic hyperkeratosis 2B, autosomal recessive


developmental and epileptic encephalopathy, 70


Soft tissue swelling of interphalangeal joints


ALPHA-FETOPROTEIN, HEREDITARY PERSISTENCE OF


early-onset generalized limb-onset dystonia


neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly


cystic leukoencephalopathy without megalencephaly


autosomal recessive nonsyndromic hearing loss 71


developmental and epileptic encephalopathy 92


autosomal dominant centronuclear myopathy


metabolic myopathy due to lactate transporter defect


X-linked lymphoproliferative disease due to SH2D1A deficiency


Reduced alpha-methylacyl-CoA racemase activity in cultured fibroblasts


Increased circulating very long-chain fatty acid concentration


Increased phytanic acid:pristanic acid ratio


dyskinesia with orofacial involvement, autosomal dominant


neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome


Fusiform ascending tubular aorta aneurysm


short stature-pituitary and cerebellar defects-small sella turcica syndrome


Impaired growth-hormone response to insulin stimulation test


alacrima, congenital, autosomal dominant


Charcot-Marie-Tooth disease axonal type 2C


Decreased distal sensory nerve action potential


macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss


cerebellar atrophy with seizures and variable developmental delay


Charcot-Marie-Tooth disease axonal type 2Q


microcephaly 26, primary, autosomal dominant


epidermodysplasia verruciformis, susceptibility to, 3


mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9


inosine phosphorylase deficiency, immune defect due to


thrombophilia, X-linked, due to factor 9 defect


Abnormal circulating renin concentration


autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation


autosomal recessive nonsyndromic hearing loss 61


Increased circulating iron concentration


Decreased circulating hepcidin concentration


congenital disorder of glycosylation, type IIq


juvenile amyotrophic lateral sclerosis with dementia


Unesterified cholesterol accumulation in cultured fibroblasts


Congenital symmetrical palmoplantar keratosis


infantile-onset generalized dyskinesia with orofacial involvement


intellectual disability, autosomal recessive 10


intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies


herpes simplex encephalitis, susceptibility to, 4


STT3A-congenital disorder of glycosylation


methylmalonate semialdehyde dehydrogenase deficiency


Reduced methylmalonate semialdehyde dehydrogenase activity in cultured fibroblasts


Elevated urinary 3-hydroxyisobutyric acid level


pyruvate dehydrogenase E1-beta deficiency


ovalocytosis, hereditary hemolytic, with defective erythropoiesis


posterior polymorphous corneal dystrophy 2


peroxisome biogenesis disorder 13A (Zellweger)


Reduced number of intrahepatic bile ducts


severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome


migraine, with or without aura, susceptibility to, 13


wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome


Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency


hydrops fetalis, nonimmune, with gracile bones and dysmorphic features


intellectual disability, autosomal recessive 60


corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome


internal carotid arteries, hypoplasia of


helicoid peripapillary chorioretinal degeneration


developmental and epileptic encephalopathy, 66


Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency


respiratory distress syndrome in premature infants


neuropathy, hereditary sensory and autonomic, type 1C


Distal sensory impairment of all modalities


radioulnar synostosis with amegakaryocytic thrombocytopenia 2


chromosome 17P13.3, telomeric, duplication syndrome


Contracture of the proximal interphalangeal joint of the 3rd finger


hydrocephalus, nonsyndromic, autosomal recessive 2


blepharophimosis - intellectual disability syndrome, Verloes type


infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly


combined oxidative phosphorylation deficiency 53


Parkinson disease 22, autosomal dominant


hypotonia with lactic acidemia and hyperammonemia


autosomal dominant aplasia and myelodysplasia


megacystis-microcolon-intestinal hypoperistalsis syndrome 2


hyperparathyroidism, primary, caused by water clear cell hyperplasia


Elevated urinary pyrroline hydroxycarboxylic acid level


Elevated circulating 1-pyrroline-5-carboxylic acid concentration


Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity


congenital multicore myopathy with external ophthalmoplegia


Type 1 and type 2 muscle fiber minicore regions


intellectual disability, autosomal dominant 2


Abnormal renal corticomedullary differentiation


deafness, congenital, with total albinism


microcephaly 9, primary, autosomal recessive


avascular necrosis of femoral head, primary, 2


Partial-complete absence of 5th phalanges


mental and growth retardation with amblyopia


autosomal recessive limb-girdle muscular dystrophy type 2F


X-linked intellectual disability, Stocco dos Santos type


Tubular basement membrane disintegration


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5


Elevated urinary creatine/creatinine ratio


Elevated circulating creatine concentration


combined oxidative phosphorylation deficiency 52


necrotizing encephalomyelopathy, subacute, of Leigh, adult


Proximal phalangeal periosteal thickening


developmental and epileptic encephalopathy, 90


mitochondrial complex IV deficiency, nuclear type 23


arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development


mitochondrial DNA depletion syndrome 15 (hepatocerebral type)


lethal congenital contracture syndrome 6


Abnormal circulating free T4 concentration


Increased circulating free T4 concentration


frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome


Hemosiderin-laden macrophages in bronchoalveolar fluid


Perinuclear antineutrophil antibody positivity


Cytoplasmic antineutrophil antibody positivity


Abnormal circulating vitamin B12 concentration


severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency


Reduced red cell adenosine deaminase level


superior transverse scapular ligament, calcification of, familial


Entrapment neuropathy of suprascapular nerve


leukoencephalopathy, progressive, infantile-onset, with or without deafness


mesoaxial synostotic syndactyly with phalangeal reduction


Aplasia/Hypoplasia of the middle phalanx of the 5th finger


Proximal/middle symphalangism of 5th finger


Symphalangism affecting the phalanges of the hallux


Aplasia/Hypoplasia of the middle phalanx of the 2nd finger


spastic paraplegia 84, autosomal recessive


hypouricemia, familial renal, due to tubular hypersecretion


autosomal recessive Parkinson disease 14


Increased bone density with cystic changes


Aplasia/Hypoplasia of the cerebellar vermis


Elevated circulating globotriaosylceramide concentration


Decreased alpha-galactosidase A activity


short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2


severe combined immunodeficiency due to DNA-PKcs deficiency


Disseminated nontuberculous mycobacterial infection


Self-mutilation of tongue and lips due to involuntary movements


leukoencephalopathy, diffuse hereditary, with spheroids 1


diencephalic-mesencephalic junction dysplasia syndrome 1


COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8


Hereditary nonpolyposis colorectal carcinoma


immunodeficiency, developmental delay, and hypohomocysteinemia


macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin


intellectual disability-brachydactyly-Pierre Robin syndrome


Aplasia of the distal phalanx of the 5th finger


ichthyosis, lamellar, autosomal dominant


progressive retinal dystrophy due to retinol transport defect


Charcot-Marie-Tooth disease X-linked dominant 1


radioulnar synostosis with amegakaryocytic thrombocytopenia 1


infantile-onset ascending hereditary spastic paralysis


short-rib thoracic dysplasia 13 with or without polydactyly


hypogonadotropic hypogonadism 27 without anosmia


Reduced response to gonadotropin-releasing hormone stimulation test


combined malonic and methylmalonic acidemia


neuronal ceroid lipofuscinosis 8 northern epilepsy variant


Prolonged bleeding following circumcision


spastic paraplegia 83, autosomal recessive


Optic atrophy from cranial nerve compression


Elevated circulating type I procollagen aminoterminal propeptide concentration


cerebroretinal microangiopathy with calcifications and cysts 1


Charcot-Marie-Tooth disease axonal type 2N


neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy


intellectual disability, autosomal dominant 50


hyperimmunoglobulinemia D with periodic fever


DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5


Moderately reduced left ventricular ejection fraction


spastic paraplegia 87, autosomal recessive


hereditary sclerosing poikiloderma, Weary type


Elevated amniotic fluid alpha-fetoprotein


Reduced Inositol polyphosphate 5-phosphatase OCRL-1 activity in cultured fibroblasts


mitochondrial complex I deficiency, nuclear type 1


Focal T2 hyperintense basal ganglia lesion


Focal T2 hypointense basal ganglia lesion


neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures


Abnormal circulating testosterone concentration


Decreased mean corpuscular hemoglobin concentration


developmental and epileptic encephalopathy, 7


muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14


encephalitis/encephalopathy, mild, with reversible myelin vacuolization


Hennekam lymphangiectasia-lymphedema syndrome 1


OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 16


isolated thyrotropin-releasing hormone deficiency


mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy


microcephaly, developmental delay, and brittle hair syndrome


short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies


hypogonadotropic hypogonadism 5 with or without anosmia


intellectual disability, autosomal recessive 46


congenital disorder of glycosylation, type iit


Elevated alkaline phosphatase of bone origin


Pseudoepiphyses of the middle phalanges of the hand


Pseudoepiphyses of the proximal phalanges of the hand


short stature-craniofacial anomalies-genital hypoplasia syndrome


Decreased circulating beta-mannosidase activity


Reduced tissue beta-mannosidase activity


combined oxidative phosphorylation defect type 13


Decreased mitochondrial complex III activity in liver tissue


hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature


autosomal recessive agammaglobulinemia 1


proteasome-associated autoinflammatory syndrome 3


autosomal recessive spinocerebellar ataxia 14


hypophosphatemic rickets, autosomal recessive, 1


leukoencephalopathy with vanishing white matter 5


Decreased CSF asialotransferrin to transferrin ratio


epidermolysis bullosa simplex 2C, localized


spondyloepimetaphyseal dysplasia, Bieganski type


Peg-like central prominence of distal tibial metaphyses


lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis


Loss of subcutaneous adipose tissue from upper limbs


Progressive loss of facial adipose tissue


X-linked lethal multiple pterygium syndrome


hypophosphatemic rickets, X-linked recessive


neurodevelopmental disorder with impaired language and ataxia and with or without seizures


microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome


autosomal recessive limb-girdle muscular dystrophy type 2H


mitochondrial trifunctional protein deficiency 2


Increased circulating NT-proBNP concentration


metaphyseal chondrodysplasia-retinitis pigmentosa syndrome


recurrent Neisseria infections due to factor D deficiency


Partial functional complement factor D deficiency


developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities


leukoencephalopathy with vanishing white matter 4


Reduced tissue gamma-glutamyltransferase activity


intellectual developmental disorder, X-linked 112


Hypokalemic hypochloremic metabolic alkalosis


spinocerebellar ataxia, autosomal recessive 25


mitochondrial complex 2 deficiency, nuclear type 4


IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY


Persistently decreased total neutrophil count


Decreased specific antibody response to vaccination


Increased megakaryocyte colony forming unit count


immunodeficiency 65, susceptibility to viral infections


intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies


neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity


Elevated circulating D-glyceric acid concentration


Elevated CSF D-glyceric acid concentration


Reduced hepatic D-glycerate kinase activity


inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2


severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive


Failure to thrive secondary to recurrent infections


intellectual disability, autosomal dominant 58


hemolytic anemia due to glutathione reductase deficiency


Reduced erythrocyte glutathione reductase activity


renal dysplasia, cystic, susceptibility to


Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome


Pulmonary arterial hypertension with lack of acute response to NO challenge


brain malformations with or without urinary tract defects


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14


developmental and epileptic encephalopathy, 11


Delayed brainstem auditory evoked response conduction time


pulmonary fibrosis and/or bone marrow failure, telomere-related, 5


retinal dystrophy with or without macular staphyloma


idiopathic spontaneous coronary artery dissection


neuronopathy, distal hereditary motor, type 2A


Paresis of extensor muscles of the big toe


developmental and epileptic encephalopathy, 63


EEG with generalized epileptiform discharges


epidermolysis bullosa, junctional 2A, intermediate


retinal telangiectasia and hypogammaglobulinemia


Low urinary cyclic AMP response to PTH administration


Decreased specific antibody response to protein-conjugated polysaccharide vaccine


Decreased specific antibody response to polysaccharide vaccine


neurodevelopmental disorder with central hypotonia and dysmorphic facies


Charcot-Marie-Tooth disease dominant intermediate F


cervical hypertrichosis-peripheral neuropathy syndrome


isolated anterior cervical hypertrichosis


optic atrophy--spastic paraplegia syndrome


autoinflammation with arthritis and vasculitis


diastasis recti and weakness of the linea alba


very long chain acyl-CoA dehydrogenase deficiency


Diminished tissue very long-chain acyl-CoA dehydrogenase activity


neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities


thyroid hormone resistance, generalized, autosomal dominant


intellectual disability, autosomal dominant 48


maturity-onset diabetes of the young type 13


Anti-glutamic acid decarboxylase antibody positivity


synovial chondromatosis, familial, with dwarfism


Charcot-Marie-Tooth disease X-linked recessive 2


Cone-shaped epiphyses of phalanges 2 to 5


fallot complex-intellectual disability-growth delay syndrome


brain abnormalities, neurodegeneration, and dysosteosclerosis


neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy


fragile X-associated tremor/ataxia syndrome


Reduced erythrocyte porphobilinogen deaminase activity


hereditary sensory and autonomic neuropathy type 1B


glycosylphosphatidylinositol biosynthesis defect 16


developmental delay with short stature, dysmorphic facial features, and sparse hair 2


neutropenia, severe congenital, 9, autosomal dominant


microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type


lethal congenital contracture syndrome 11


Increased circulating interferon-gamma concentration


Partial duplication of the distal phalanx of the hallux


autosomal recessive spinocerebellar ataxia 16


Abnormal circulating immunoglobulin concentration


Percussion-induced rapid rolling muscle contractions


Decreased circulating inhibin B concentration


ventriculomegaly with defects of the radius and kidney


autosomal recessive nonsyndromic hearing loss 14


intellectual developmental disorder with autism and macrocephaly


intellectual disability, autosomal dominant 20


neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction


heterotaxy, visceral, 11, autosomal, with male infertility


atrial septal defect, ostium primum type


congenital anomalies of kidney and urinary tract 3


Rhabdoid Tumor Predisposition Syndrome 2


short stature-brachydactyly-obesity-global developmental delay syndrome


pancreatic triacylglycerol lipase deficiency


MPDU1-congenital disorder of glycosylation


spastic paraplegia 18a, autosomal dominant


methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency


Elevated circulating palmitoleylcarnitine concentration


congenital amegakaryocytic thrombocytopenia 1


combined oxidative phosphorylation deficiency 19


striatal degeneration, autosomal dominant 2


intellectual disability, autosomal recessive 9


early-onset parkinsonism-intellectual disability syndrome


epilepsy, idiopathic generalized, susceptibility to, 12


thrombophilia, X-linked, due to factor 8 defect


electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon


porokeratosis 8, disseminated superficial actinic type


menstrual cycle-dependent periodic fever


amyloidosis, primary localized cutaneous, 1


autosomal recessive nonsyndromic hearing loss 97


spondyloepimetaphyseal dysplasia, Isidor-Toutain type


diabetes mellitus, transient neonatal, 2


spinocerebellar ataxia, autosomal recessive 31


hypogonadotropic hypogonadism 24 without anosmia


Shortening of all distal phalanges of the toes


atresia of external auditory canal and conductive deafness


Delayed pneumatization of the mastoid process


Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency


cerebroretinal microangiopathy with calcifications and cysts 2


intellectual disability, autosomal recessive 51


Charcot-Marie-Tooth disease recessive intermediate B


Aplasia cutis congenita over posterior parietal area


hereditary sensory and autonomic neuropathy with spastic paraplegia


Decreased circulating apolipoprotein B concentration


testicular anomalies with or without congenital heart disease


epilepsy, X-linked 1, with variable learning disabilities and behavior disorders


arthrogryposis multiplex congenita 1, neurogenic, with myelin defect


Microvillar PAS-positive secretory granules


intellectual disability, autosomal dominant 14


neurodevelopmental disorder with seizures and gingival overgrowth


EEG with occipital epileptiform discharges


atrioventricular septal defect, susceptibility to, 2


pigmented nodular adrenocortical disease, primary, 2


Paradoxical increased cortisol secretion on dexamethasone suppression test


Pigmented micronodular adrenocortical disease


polycystic kidney disease 3 with or without polycystic liver disease


acrodysostosis 2 with or without hormone resistance


arrhythmogenic right ventricular dysplasia 5


progressive familial heart block, type 1A


cutis laxa, autosomal recessive, type 2E


short-rib thoracic dysplasia 21 without polydactyly


periodic fever, immunodeficiency, and thrombocytopenia syndrome


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6


Aplasia of the inferior half of the cerebellar vermis


Posterior synechiae of the anterior chamber


Elevated circulating glutaric acid concentration


Symmetrical progressive peripheral demyelination


Reduced peroxisomal glutaryl-CoA oxidase activity


Elevated circulating glutarylcarnitine concentration


autosomal dominant nonsyndromic hearing loss 3A


hemolytic anemia with thermal sensitivity of red cells


neurodegeneration with brain iron accumulation 2A


Increased circulating free fatty acid level


Abnormal amplitude of pattern reversal visual evoked potentials


cardiac anomalies - developmental delay - facial dysmorphism syndrome


Hypoplasia of the abdominal wall musculature


congenital bilateral aplasia of vas deferens from CFTR mutation


mandibuloacral dysplasia with type A lipodystrophy


Acroosteolysis of distal phalanges (feet)


Osteolytic defects of the distal phalanges of the hand


Increased adipose tissue around the neck


neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities


pancreatic intraductal papillary-mucinous neoplasm


Abnormal circulating aldosterone concentration


Large cafe-au-lait macules with irregular margins


dyskinesia with orofacial involvement, autosomal recessive


developmental and epileptic encephalopathy, 79


autosomal recessive nonsyndromic hearing loss 3


neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus


Multilamellation of medullary peritubular capillary basement membranes


epilepsy, familial focal, with variable foci 3


Palpebral fissure narrowing on adduction


Slit-like opening of the exterior auditory meatus


ALG9-congenital disorder of glycosylation


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10


Enlarged proximal interphalangeal joints


X-linked dominant chondrodysplasia, Chassaing-Lacombe type


Metaphyseal cupping of proximal phalanges


epilepsy, idiopathic generalized, susceptibility to, 3


neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies


renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies


Recurrent gram-negative bacterial infections


ocular albinism with late-onset sensorineural deafness


Adult onset sensorineural hearing impairment


X-linked central congenital hypothyroidism with late-onset testicular enlargement


Inappropriately normal thyroid-stimulating hormone level


Reduced TSH response to thyrotrophin-releasing hormone stimulation test


dentin dysplasia-sclerotic bones syndrome


spinal muscular atrophy, distal, autosomal recessive, 6


Recurrent acute respiratory tract infection


neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features


Increased level of hippuric acid in urine


Positive 2,4-dinitrophenylhydrazine urine test


Elevated circulating L-alloisoleucine concentration


Elevated circulating branched chain amino acid concentration


Reduced branched-chain alpha-keto acid dehydrogenase activity in cultured fibroblasts


blepharospasm, benign essential, susceptibility to


Reduced tissue beta-glucuronidase activity


Anterior beaking of lower thoracic vertebrae


cholestasis, progressive familial intrahepatic, 11


Abnormal circulating bilirubin concentration


encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1


Elevated circulating hexacosanoic acid concentration


progressive pseudorheumatoid arthropathy of childhood


Enlargement of the proximal femoral epiphysis


mitochondrial complex 4 deficiency, nuclear type 12


developmental and epileptic encephalopathy, 32


EEG with spike-wave complexes (2.5-3.5 Hz)


ossification of the posterior longitudinal ligament of the spine


megalencephalic leukoencephalopathy with subcortical cysts 1


Diffuse swelling of cerebral white matter


Shovel-shaped maxillary central incisors


inclusion body myopathy and brain white matter abnormalities


isolated focal non-epidermolytic palmoplantar keratoderma


autoimmune interstitial lung disease-arthritis syndrome


congenital stationary night blindness 1E


Reduced tissue fatty aldehyde dehydrogenase activity


monosomy 7 myelodysplasia and leukemia syndrome 2


spondyloepimetaphyseal dysplasia, Irapa type


rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction


Aplasia/Hypoplasia of the distal phalanges of the toes


Stickler syndrome, type I, nonsyndromic ocular


microphthalmia, isolated, with coloboma 10


Hirschsprung disease-nail hypoplasia-dysmorphism syndrome


short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis


congenital unilateral hypoplasia of depressor anguli oris


autosomal dominant nonsyndromic hearing loss 16


Abnormal vertebral segmentation and fusion


craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1


Reduced 3-phosphoglycerate dehydrogenase activity


microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1


autoimmune polyendocrine syndrome type 1


Anti-thyroid-stimulating hormone receptor antibody positivity


Anti-side-chain cleavage enzyme antibody positivity


Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;


MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10


myopathy, reducing body, X-linked, childhood-onset


Muscle fiber intracytoplasmic reducing inclusion bodies


developmental and epileptic encephalopathy, 1


hyperparathyroidism, neonatal self-limited primary, with hypercalciuria


growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy


autosomal recessive nonsyndromic hearing loss 2


spondyloepimetaphyseal dysplasia, Missouri type


proximal myopathy with focal depletion of mitochondria


macular dystrophy with central cone involvement


global developmental delay with speech and behavioral abnormalities


cholesterol-ester transfer protein deficiency


congenital disorder of glycosylation, type IIw


microcephaly 18, primary, autosomal dominant


PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation


spastic ataxia-corneal dystrophy syndrome


autosomal dominant nonsyndromic hearing loss 49


Charcot-Marie-Tooth disease, axonal, type 2FF


lethal short-limb skeletal dysplasia, Al Gazali type


omphalocele syndrome, Shprintzen-Goldberg type


hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase


Decreased tissue S-adenosylhomocysteine hydrolase activity


Increased circulating creatine kinase MM isoform


Contracture of the distal interphalangeal joint of the fingers


severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome


systemic lupus erythematosus, susceptibility to, 6


deafness with anhidrotic ectodermal dysplasia


pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8


nodular regenerative hyperplasia of the liver


microphthalmia, isolated, with corectopia


genitourinary and/or brain malformation syndrome


leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical


Decreased sweating due to autonomic dysfunction


Orthostatic hypotension due to autonomic dysfunction


intellectual developmental disorder with poor growth and with or without seizures or ataxia


congenital heart defects, multiple types, 3


familial cold autoinflammatory syndrome 1


autosomal recessive spinocerebellar ataxia 2


severe early-onset pulmonary alveolar proteinosis due to MARS deficiency


ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant


X-linked hypohidrotic ectodermal dysplasia


congenital hereditary endothelial dystrophy of cornea


immunodeficiency due to MASP-2 deficiency


chronic mucocutaneous candidiasis due to lymphokine deficiency


ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive


epilepsy, early-onset, vitamin B6-dependent


type I complement component 8 deficiency


Decreased circulating complement C8 concentration


neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities


intellectual disability-hypotonia-spasticity-sleep disorder syndrome


pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9


immunodeficiency 14b, autosomal recessive


Congenital hypertrophy of retinal pigment epithelium


rhizomelic limb shortening with dysmorphic features


myopathy, myofibrillar, 13, with rimmed vacuoles


combined oxidative phosphorylation deficiency 40


Decreased circulating sulfate concentration


granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3


microcephalic osteodysplastic primordial dwarfism type II


Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines


isolated growth hormone deficiency, type 5


Difficulty adjusting to changes in luminance


muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome


Skeletal muscle autophagosome accumulation


amelia cleft lip palate hydrocephalus iris coloboma


lower urinary tract obstruction, congenital


oocyte/zygote/embryo maturation arrest 22


Decreased CSF homovanillic acid concentration


Decreased CSF 5-hydroxyindolacetic acid concentration


bronchiectasis with or without elevated sweat chloride 2


Hyperpolarized transepithelial nasal potential difference


Abnormality of exocrine pancreas physiology


cortical dysplasia, complex, with other brain malformations 9


Abnormality of the proximal tibial epiphysis


hereditary attention deficit-hyperactivity disorder


extraoral halitosis due to methanethiol oxidase deficiency


arrhythmogenic right ventricular dysplasia 1


postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome


progressive familial intrahepatic cholestasis type 1


Intrahepatic cholestasis with episodic jaundice


encephalopathy due to defective mitochondrial and peroxisomal fission 2


deafness, cataract, retinitis pigmentosa, and sperm abnormalities


developmental and epileptic encephalopathy, 62


hyperlipidemia, familial combined, LPL related


congenital myopathy 4B, autosomal recessive


developmental and epileptic encephalopathy, 59


Intellectual developmental disorder, autosomal dominant 76


developmental and epileptic encephalopathy, 13


severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome


calcific aortic disease with immunologic abnormalities, familial


deafness, neural, with atypical atopic dermatitis


hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism


Premature separation of centromeric heterochromatin


MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9


natal teeth-intestinal pseudoobstruction-patent ductus syndrome


PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3


Increased circulating troponin I concentration


autosomal recessive congenital ichthyosis 5


CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL


mandibulofacial dysostosis with alopecia


mitochondrial complex 4 deficiency, nuclear type 11


muscular dystrophy-dystroglycanopathy type B5


Helicobacter pylori infection, susceptibility to


epidermolysis bullosa with diaphragmatic hernia


pregnancy loss, recurrent, susceptibility to, 1


Cardiac total anomalous pulmonary venous connection


X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2


Ehlers-Danlos syndrome, spondylodysplastic type, 1


neurodevelopmental disorder with microcephaly, hypotonia, and absent language


COLORECTAL CANCER, SUSCEPTIBILITY TO, 12


neurodevelopmental disorder with or without seizures and gait abnormalities


cholestasis, progressive familial intrahepatic, 12


X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency


cholestasis, progressive familial intrahepatic, 9


cutis verticis gyrata and intellectual disability


polyps, multiple and recurrent inflammatory fibroid, gastrointestinal


Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity


intellectual disability, X-linked, with panhypopituitarism


hypertrophic osteoarthropathy, primary, autosomal dominant


macular dystrophy with or without cone dysfunction


neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis


spinal muscular atrophy-progressive myoclonic epilepsy syndrome


cerebellar atrophy, developmental delay, and seizures


arrhythmogenic right ventricular dysplasia 8


pelvic organ prolapse, susceptibility to


muscular dystrophy, adult-onset, with leukoencephalopathy


intellectual disability, autosomal recessive 56


familial episodic pain syndrome with predominantly upper body involvement


autosomal dominant nonsyndromic hearing loss 17


microangiopathy and leukoencephalopathy, pontine, autosomal dominant


Impaired neutrophil bactericidal activity


Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome


Aplasia of the proximal phalanx of the 2nd finger


46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency


Female external genitalia in individual with 46,XY karyotype


combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2


Abnormal serum insulin-like growth factor 1 level


deafness, sensorineural, with peripheral neuropathy and arterial disease


antithrombin, familial hemorrhagic diathesis due to


intellectual disability, autosomal dominant 41


hypomyelination with brain stem and spinal cord involvement and leg spasticity


Abnormal circulating follicle-stimulating hormone concentration


hypogonadotropic hypogonadism 2 with or without anosmia


Underdeveloped superior crus of antihelix


congenital disorder of glycosylation, type 2v


Abnormal light-adapted flicker electroretinogram


aniridia-renal agenesis-psychomotor retardation syndrome


Charcot-Marie-Tooth disease recessive intermediate D


granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1


Recurrent Serratia marcescens infections


Recurrent Burkholderia cepacia infections


thrombocytopenia, anemia, and myelofibrosis


Medial calcification of medium-sized arteries


facioscapulohumeral muscular dystrophy 4, digenic


arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum


autosomal dominant palmoplantar keratoderma and congenital alopecia


muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1


intellectual developmental disorder with dysmorphic facies and ptosis


arrhythmogenic right ventricular dysplasia 6


leukodystrophy and acquired microcephaly with or without dystonia;


autosomal dominant nonsyndromic hearing loss 2A


PPARG-related familial partial lipodystrophy


Loss of gluteal subcutaneous adipose tissue


frontotemporal dementia and/or amyotrophic lateral sclerosis 1


immunodeficiency 72 with autoinflammation


Neonatal insulin-dependent diabetes mellitus


cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4


Cerebellar ataxia associated with quadrupedal gait


Proximal femoral metaphyseal irregularity


Irregular ossification at anterior rib ends


X-linked intellectual disability-cerebellar hypoplasia syndrome


Disorganization of the anterior cerebellar vermis


cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome


arrhythmogenic right ventricular dysplasia 11


generalized epilepsy with febrile seizures plus, type 2


infantile convulsions and choreoathetosis


intellectual developmental disorder, autosomal dominant 65


retinal dystrophy and microvillus inclusion disease


autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome


Decreased anti-CD3/28-induced T-cell proliferation


spastic paraplegia 82, autosomal recessive


autosomal recessive pericentral pigmentary retinopathy


factor 5 and Factor VIII, combined deficiency of, 2


Impaired pursuit initiation and maintenance


congenital hypotrichosis with juvenile macular dystrophy


autosomal recessive limb-girdle muscular dystrophy type 2O


right pulmonary artery, anomalous origin of, familial


Anomalous origin of right pulmonary artery from ascending aorta


Parkinson disease 24, autosomal dominant, susceptibility to


neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia


metaphyseal modeling abnormality, skin lesions, and spastic paraplegia


cutis laxa, autosomal recessive, type 1A


Abnormal cutaneous elastic fiber morphology


hypoxanthine guanine phosphoribosyltransferase partial deficiency


congenital muscular dystrophy-infantile cataract-hypogonadism syndrome


Macular hypopigmented whorls, streaks, and patches


Aplasia of the middle phalanx of the 4th toe


Aplasia of the distal phalanges of the toes


pigmented nodular adrenocortical disease, primary, 1


Decreased circulating dehydroepiandrosterone concentration


hypogonadotropic hypogonadism 8 with or without anosmia


Increased circulating hemoglobin concentration


Elevated circulating erythropoietin concentration


hemolytic anemia due to diphosphoglycerate mutase deficiency


Reduced erythrocyte bisphosphoglycerate mutase activity


MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2


mitochondrial complex 1 deficiency, nuclear type 6


malignant hyperthermia, susceptibility to, 4


microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome


immunodeficiency 91 and hyperinflammation


Reduced circulating acyl-CoA oxidase activity


early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome


spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2


developmental and epileptic encephalopathy, 28


vertebral hypersegmentation and orofacial anomalies


glycogen storage disease due to muscle and heart glycogen synthase deficiency


combined oxidative phosphorylation defect type 24


ophthalmoplegia, familial total, with iris transillumination


syndromic X-linked intellectual disability Nascimento type


neurodevelopmental disorder with cerebellar hypoplasia and spasticity


congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay


congenital muscular dystrophy with intellectual disability and severe epilepsy


Decreased O-mannosyl glycans on alpha-dystroglycan


Decreased circulating GABA concentration


chromosome 17q23.1-q23.2 deletion syndrome


spinocerebellar ataxia, autosomal recessive 24


Ehlers-Danlos syndrome, dermatosparaxis type


developmental and epileptic encephalopathy 114


Impaired histidine renal tubular absorption


combined oxidative phosphorylation defect type 20


developmental delay, hypotonia, and impaired language


agammaglobulinemia 9, autosomal recessive


short-rib thoracic dysplasia 18 with polydactyly


X-linked myopathy with excessive autophagy


glycogen storage disease due to phosphoglycerate kinase 1 deficiency


combined oxidative phosphorylation deficiency 34


Reduced aspartoacylase activity in cultured fibroblasts


Elevated brain N-acetyl aspartate level by MRS


Elevated urine N-acetylaspartic acid level


Increased circulating N-acetylaspartic acid concentration


Increased CSF N-acetylaspartic acid concentration


spastic paraplegia, optic atrophy, and dementia


carnitine palmitoyl transferase 1A deficiency


corticosterone methyloxidase type 1 deficiency


nephrolithiasis, X-linked recessive, with renal failure


microcephalic primordial dwarfism due to ZNF335 deficiency


atypical hemolytic-uremic syndrome with MCP/CD46 anomaly


GRN-related frontotemporal lobar degeneration with Tdp43 inclusions


radioulnar synostosis, nonsyndromic, susceptibility to


Femoral bowing present at birth, straightening with time


cleft palate with or without ankyloglossia, X-linked


familial recurrent peripheral facial palsy


pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4


spinal muscular atrophy, infantile, James type


autosomal dominant nocturnal frontal lobe epilepsy 1


neurodevelopmental disorder with microcephaly, ataxia, and seizures


hyperpigmentation of Fuldauer and Kuijpers


focal palmoplantar and gingival keratoderma


Focal friction-related palmoplantar hyperkeratosis


anemia, congenital dyserythropoietic, type 1a


Endopolyploidy on chromosome studies of bone marrow


Reduced level of N-acetylglucosaminyltransferase II


neurodevelopmental disorder with speech impairment and dysmorphic facies


Reduced tissue alpha-N-acetylglucosaminidase activity


short-limb skeletal dysplasia with severe combined immunodeficiency


obesity due to melanocortin 4 receptor deficiency


inflammatory poikiloderma with hair abnormalities and acral keratoses


stapes ankylosis with broad thumbs and toes


hypogonadotropic hypogonadism 26 with or without anosmia


global developmental delay, progressive ataxia, and elevated glutamine


neuronopathy, distal hereditary motor, type 9


Elevated urine hydroxyphenyllactic acid level


Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay


Charcot-Marie-Tooth disease axonal type 2O


Increased VLDL cholesterol concentration


Increased circulating chylomicron concentration


developmental and epileptic encephalopathy, 72


X-linked intellectual disability-psychosis-macroorchidism syndrome


congenital diarrhea 7 with exudative enteropathy


congenital heart defects, multiple types, 5


muscular dystrophy, congenital, with or without seizures


absence deformity of leg-cataract syndrome


colobomatous microphthalmia-rhizomelic dysplasia syndrome


autosomal recessive congenital ichthyosis 4B


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3


Elevated circulating glucosylsphingosine concentration


chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation


microcephaly 17, primary, autosomal recessive


gastrointestinal defects and immunodeficiency syndrome 1