Reduced level of N-acetylglucosaminyltransferase II


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

neurodevelopmental disorder with speech impairment and dysmorphic facies


Hypoplastic iris stroma

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


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


congenital pulmonary airway malformation


Finnish upper limb-onset distal myopathy


peripheral motor neuropathy, childhood-onset, biotin-responsive


Developmental and epileptic encephalopathy 118


Aplasia cutis congenita over the scalp vertex


autosomal dominant nonsyndromic hearing loss 9


Abnormal vestibulocochlear nerve morphology


Postlingual sensorineural hearing impairment


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4


ERYTHROLEUKEMIA, FAMILIAL, SUSCEPTIBILITY TO


myelodysplastic syndrome with ring sideroblasts


microcephaly-cardiac defect-lung malsegmentation syndrome


DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2


congenital heart defects, multiple types, 2


Triangular shaped middle phalanx of the 5th finger


Triangular shaped middle phalanx of the 2nd finger


spondyloepimetaphyseal dysplasia, Krakow type


anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis


macular dystrophy, fenestrated sheen type


ocular pterygium-digital keloid dysplasia syndrome


atrophia maculosa varioliformis cutis, familial


neurodevelopmental disorder with midbrain and hindbrain malformations


myopathy, congenital proximal, with minicore lesions


berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification


fibular aplasia, tibial campomelia, and oligosyndactyly syndrome


neuronopathy, distal hereditary motor, autosomal recessive 9


spastic paraplegia 90A, autosomal dominant


metaphyseal dysplasia without hypotrichosis


mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A


severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome


bronchiectasis with or without elevated sweat chloride 1


early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome


combined oxidative phosphorylation defect type 23


deafness-intellectual disability, Martin-Probst type syndrome


rhizomelic chondrodysplasia punctata type 1


Calcific stippling of infantile cartilaginous skeleton


familial Mediterranean fever, autosomal dominant


succinyl-CoA:3-ketoacid CoA transferase deficiency


Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts


alveolar capillary dysplasia with misalignment of pulmonary veins


Widely-spaced maxillary central incisors


Muscle fiber polyglucosan inclusion bodies


seizures-intellectual disability due to hydroxylysinuria syndrome


phosphoenolpyruvate carboxykinase deficiency, cytosolic


Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts


autosomal recessive limb-girdle muscular dystrophy type 2W


pancreatic beta cell agenesis with neonatal diabetes mellitus


mitochondrial complex V (ATP synthase) deficiency, nuclear type 7


46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome


spastic paraplegia 90B, autosomal recessive


neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity


Partial absence of the septum pellucidum


Multifocal cerebral white matter abnormalities


myopathy, congenital, with respiratory insufficiency and bone fractures


pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7


mitochondrial complex III deficiency nuclear type 6


odontochondrodysplasia 2 with hearing loss and diabetes


Charcot-Marie-Tooth disease axonal type 2H


Dyskeratosis Congenita, Autosomal Recessive 3


Parathormone-independent increased renal tubular calcium reabsorption


congenital myopathy 7A, myosin storage, autosomal dominant


Spinal cord posterior columns myelin loss


autosomal recessive nonsyndromic hearing loss 67


obesity due to pro-opiomelanocortin deficiency


congenital isolated adrenocorticotropic hormone deficiency


Thyroid defect in oxidation and organification of iodide


generalized epilepsy with febrile seizures plus, type 9


keratosis follicularis spinulosa decalvans, autosomal dominant


Absent central microtubular pair morphology of respiratory motile cilia


optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy


combined oxidative phosphorylation deficiency 57


neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities


autosomal recessive spinocerebellar ataxia 11


Carabelli anomaly of maxillary molar teeth


familial partial lipodystrophy, Kobberling type


Increased subcutaneous truncal adipose tissue


leukoencephalopathy with mild cerebellar ataxia and white matter edema


leukoencephalopathy, progressive, with ovarian failure


Decreased circulating vitamin E concentration


intellectual disability and myopathy syndrome


X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome


Abnormal circulating free T3 concentration


Elevated circulating reverse T3 concentration


Decreased circulating selenium concentration


microcephaly 14, primary, autosomal recessive


epilepsy, idiopathic generalized, susceptibility to, 17


Increased level of L-pyroglutamic acid in urine


combined oxidative phosphorylation deficiency 51


intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome


Focal sensory seizure with vestibular features


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


Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole


Focal sensory seizure with auditory features


Focal sensory seizure with cephalic sensation


Focal sensory seizure with olfactory features


Focal sensory seizure with visual features


multiple mitochondrial dysfunctions syndrome 4


osteopenia-intellectual disability-sparse hair syndrome


neurodevelopmental disorder with or without variable movement or behavioral abnormalities


Decreased circulating complement C5 concentration


spinocerebellar ataxia, autosomal recessive 32


DPM3-congenital disorder of glycosylation


hypophosphatemic rickets and hyperparathyroidism


Abnormal respiratory motile cilium morphology


ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive


thanatophoric dysplasia, Glasgow variant


epilepsy, idiopathic generalized, susceptibility to, 7


atypical hemolytic-uremic syndrome with I factor anomaly


methylmalonic aciduria and homocystinuria type cblF


neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures


combined oxidative phosphorylation deficiency 35


spastic paraplegia 85, autosomal recessive


spastic tetraplegia and axial hypotonia, progressive


intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects


Partial duplication of the phalanges of the hallux


neuromuscular disorder, congenital, with dysmorphic facies


Thickening of the lateral border of the scapula


Disproportionate prominence of the femoral medial condyle


developmental and epileptic encephalopathy, 44


developmental and epileptic encephalopathy, 68


ALG6-congenital disorder of glycosylation 1C


Elevated serum transaminases during infections


Reduced hepatic alanine-glyoxylate aminotransferase activity


hypothyroidism, congenital, nongoitrous, 7


autosomal dominant nonsyndromic hearing loss 44


syndromic X-linked intellectual disability Chudley-Schwartz type


Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes


encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities


Diminished alpha-ketoglutarate dehydrogenase activity in cultured fibroblasts


IMMUNODEFICIENCY, COMMON VARIABLE, 12, WITH AUTOIMMUNITY


microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome


Reduced phytanic acid oxidase activity in cultured fibroblasts


Increased circulating dehydroepiandrosterone-sulfate concentration


hereditary progressive chorea without dementia


autosomal recessive spinocerebellar ataxia 18


multiple epiphyseal dysplasia, with severe proximal femoral dysplasia


mitochondrial complex 1 deficiency, nuclear type 7


neurodevelopmental disorder with hyperkinetic movements and dyskinesia


Duplication of the proximal phalanx of the hallux


Complete duplication of proximal phalanx of the thumb


complex cortical dysplasia with other brain malformations 2


neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies


Reduced lymphocyte surface expression of CD43


Absent microvilli on the surface of peripheral blood lymphocytes


Decreased specific anti-polysaccharide antibody level


Abnormal delayed hypersensitivity skin test


Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness


cholestasis, progressive familial intrahepatic, 6


hyperinsulinemic hypoglycemia, familial, 8


muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2


hypotonia, ataxia, and delayed development syndrome


hemolytic uremic syndrome, atypical, susceptibility to, 1


facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome


hereditary progressive mucinous histiocytosis


growth hormone secreting pituitary adenoma 1


Increased circulating insulin-like growth factor 1 concentration


growth hormone-producing pituitary gland neoplasm


Sclerotic foci of metaphyses of the elbow


growth restriction, hypoplastic kidneys, alopecia, and distinctive facies


delayed sleep phase syndrome, susceptibility to


short stature and Facioauriculothoracic malformations


spinocerebellar ataxia with rigidity and peripheral neuropathy


autosomal recessive juvenile Parkinson disease 2


microcephaly 28, primary, autosomal recessive


familial clubfoot due to 17q23.1q23.2 microduplication


epilepsy, familial focal, with variable foci 1


hypogonadotropic hypogonadism 19 with or without anosmia


pyogenic bacterial infections due to MyD88 deficiency


Hennekam lymphangiectasia-lymphedema syndrome 2


renal tubular dysgenesis of genetic origin


ichthyosis, congenital, autosomal recessive 12


mitochondrial complex 3 deficiency, nuclear type 10


spondylocostal dysostosis-anal and genitourinary malformations syndrome


neuronopathy, distal hereditary motor, type 7B


dwarfism, low-birth-weight type, with unresponsiveness to growth hormone


craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2


choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome


myopathy, granulovacuolar lobular, with electrical myotonia


intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies


muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4


Anomalous origin of the right subclavian artery from the descending aorta


Left aortic arch with cervical origin of the right subclavian artery


familial partial lipodystrophy, Dunnigan type


Abnormal circulating creatinine concentration


Loss of truncal subcutaneous adipose tissue


Abnormal circulating lipoprotein lipase concentration


VACTERL association, X-linked, with or without hydrocephalus


microtia with meatal atresia and conductive deafness


growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant


amelogenesis imperfecta hypomaturation type 2A4


spondyloepiphyseal dysplasia tarda, X-linked


Hump-shaped mound of bone in central and posterior portions of vertebral endplate


epilepsy, idiopathic generalized, susceptibility to, 9


nystagmus 7, congenital, autosomal dominant


combined oxidative phosphorylation defect type 2


predisposition to invasive fungal disease due to CARD9 deficiency


Decreased circulating iron concentration


combined oxidative phosphorylation deficiency 46


Abnormal axonemal organization of respiratory motile cilia


neurodevelopmental disorder with dysmorphic facies and thin corpus callosum


congenital disorder of glycosylation, type IIz


neurodevelopmental disorder with structural brain anomalies and dysmorphic facies


Reduced quantity of Von Willebrand factor


Impaired thrombin-induced platelet aggregation


ankyloblepharon-ectodermal defects-cleft lip/palate syndrome


palmoplantar keratoderma, nonepidermolytic, focal or diffuse


autosomal recessive limb-girdle muscular dystrophy type 2K


COG1-congenital disorder of glycosylation


generalized epilepsy-paroxysmal dyskinesia syndrome


spondylocostal dysostosis 6, autosomal recessive


Systolic anterior motion of the mitral valve


sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome


Elevated CSF guanidinoacetic acid concentration


Elevated urine trihydroxycholestanoic acid level


myopathy, lactic acidosis, and sideroblastic anemia 1


Progeroid features, hepatocellular carcinoma predisposition syndrome


amyotrophic lateral sclerosis 26 with or without frontotemporal dementia


mitochondrial complex 1 deficiency, nuclear type 17


mandibuloacral dysplasia progeroid syndrome


Elevated circulating 7-dehydrocholesterol concentration


X-linked scapuloperoneal muscular dystrophy


immunodeficiency 101 (varicella zoster virus-specific)


CNS vasculitis with reactivation of varicella-zoster virus


Reduced muscle 6-phosphofructokinase activity


Reduced erythrocyte 2,3-diphosphoglycerate concentration


asthma, nasal polyps, and aspirin intolerance


hypokalemic alkalosis, familial, with specific renal tubulopathy


fatty liver disease, nonalcoholic, susceptibility to, 2


renal tubular acidosis, distal, 4, with hemolytic anemia


hereditary myopathy with lactic acidosis due to ISCU deficiency


Abnormal iron deposition in mitochondria


body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency


Abnormal morphology of the vestibule of the inner ear


glycogen storage disease due to lactate dehydrogenase M-subunit deficiency


intellectual developmental disorder, autosomal dominant 69


dementia/parkinsonism with non-Alzheimer amyloid plaques


short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1


susceptibility to respiratory infections associated with CD8alpha chain mutation


Partial absence of specific antibody response to unconjugated pneumococcus vaccine


neuropathy, hereditary motor and sensory, type 6A


short-rib thoracic dysplasia 6 with or without polydactyly


Disproportionate shortening of the tibia


hyperuricemic nephropathy, familial juvenile type 4


Thickening of the tubular basement membrane


Progressive conductive hearing impairment


Symphalangism affecting the phalanges of the hand


Proximal/middle symphalangism of 5th toe


Proximal/middle symphalangism of 4th toe


Proximal/middle symphalangism of 4th finger


spondyloarthropathy, susceptibility to, 1


Charcot-Marie-Tooth disease X-linked dominant 6


Bryant-Li-Bhoj neurodevelopmental syndrome 2


intellectual disability, autosomal dominant 13


mitochondrial complex 4 deficiency, nuclear type 10


Midline skin dimples over anterior/posterior fontanelles


chronic recurrent multifocal osteomyelitis 3


Elevated circulating butyrylcarnitine concentration


Elevated circulating thiosulfate concentration


autosomal dominant nonsyndromic hearing loss 33


platelet abnormalities with eosinophilia and immune-mediated inflammatory disease


spastic paraplegia 86, autosomal recessive


lethal congenital contracture syndrome 3


amyotrophic lateral sclerosis type 2, juvenile


macrocephaly/megalencephaly syndrome, autosomal recessive


hepatic fibrosis-renal cysts-intellectual disability syndrome


thickened earlobes-conductive deafness syndrome


Congenital conductive hearing impairment


Aplasia/Hypoplasia of the eccrine sweat glands


spondyloepimetaphyseal dysplasia, PAPSS2 type


Carney complex - trismus - pseudocamptodactyly syndrome


neurodegeneration with brain iron accumulation 8


Insulin-dependent but ketosis-resistant diabetes


intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2


developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy


neurodevelopmental disorder with poor language and loss of hand skills


osteochondrodysplasia, brachydactyly, and overlapping malformed digits


Absent dorsal skin creases over affected joints


intellectual developmental disorder with neuropsychiatric features


Noonan syndrome-like disorder with loose anagen hair 1


familial hemophagocytic lymphohistiocytosis 2


Neonatal wrinkled skin of hands and feet


macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome


neuronopathy, distal hereditary motor, autosomal dominant 15


Abnormal sensory nerve conduction velocity


Osteoarthritis of the small joints of the hand


Narrow anterio-posterior vertebral body diameter


Absent spinous processes of lower thoracic and lumbar vertebrae


erythrokeratodermia variabilis et progressiva 4


Facial telangiectasia in butterfly midface distribution


BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18


hyperphosphatasia with intellectual disability syndrome 2


chromosome 19q13.11 deletion syndrome, distal


neurodevelopmental disorder with hypotonia, seizures, and absent language


ectodermal dysplasia and immunodeficiency 1


Developmental stagnation at onset of seizures


pyridoxine-dependent epilepsy caused by ALDH7A1 mutant


Elevated circulating pipecolic acid concentration


Elevated circulating alpha-aminoadipic semialdehyde concentration


Mediosternal, longitudinal streak of hypopigmentation


thrombophilia due to protein C deficiency, autosomal recessive


autosomal recessive nonsyndromic hearing loss 31


combined oxidative phosphorylation defect type 14


mitochondrial myopathy with reversible cytochrome C oxidase deficiency


neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia


Lower thoracic interpediculate narrowness


myasthenic syndrome, congenital, 24, presynaptic


syndromic X-linked intellectual disability Claes-Jensen type


otospondylomegaepiphyseal dysplasia, autosomal dominant


ALG2-congenital disorder of glycosylation


Focal substantia nigra T2 hyperintensity


muscular dystrophy, limb-girdle, autosomal recessive 28


Increased circulating troponin T concentration


epilepsy, early-onset, with or without developmental delay


cardiomyopathy associated with myopathy and sudden death


Accessory navicular bone of foot (disorder)


generalized dominant dystrophic epidermolysis bullosa


nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis


blepharophimosis-impaired intellectual development syndrome


autosomal recessive nonsyndromic hearing loss 12


telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature


alar cartilages hypoplasia-coloboma-telecanthus syndrome


B4GALT1-congenital disorder of glycosylation


arthrogryposis multiplex congenita-whistling face syndrome


combined oxidative phosphorylation defect type 15


spastic paraplegia, intellectual disability, nystagmus, and obesity


electroencephalographic peculiarity: fronto-precentral beta wave groups


red cell phospholipid defect with hemolysis


SLC35A1-congenital disorder of glycosylation


Impaired renal tubular reabsorption of phosphate


Bernard-Soulier syndrome, type A2, autosomal dominant


Impaired collagen-related peptide-induced platelet aggregation


keratosis follicularis spinulosa decalvans, X-linked


pterin-4 alpha-carbinolamine dehydratase 1 deficiency


epidermolysis bullosa simplex 7, with nephropathy and deafness


pretibial dystrophic epidermolysis bullosa


neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism


infantile-onset X-linked spinal muscular atrophy


neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities


Decreased lecithin cholesterol acyl transferase level


Pelger-Huet-like anomaly and episodic fever with abdominal pain


autosomal recessive nonsyndromic hearing loss 65


neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies


ectodermal dysplasia with natal teeth, Turnpenny type


Charcot-Marie-tooth disease, axonal, type 2JJ


multiple mitochondrial dysfunctions syndrome 3


beta-aminoisobutyric acid, urinary excretion of


familial hemophagocytic lymphohistiocytosis 4


epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome


lung disease, immunodeficiency, and chromosome breakage syndrome;


Increased sensitivity to ionizing radiation


spondyloepiphyseal dysplasia, Kimberley type


microcephaly, epilepsy, and diabetes syndrome 2


spondyloepiphyseal dysplasia tarda, autosomal dominant


Birth length greater than 97th percentile


Two carpal ossification centers present at birth


spondyloepimetaphyseal dysplasia with multiple dislocations


Delayed phalangeal epiphyseal ossification


Posterior scalloping of vertebral bodies


neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities


oocyte/zygote/embryo maturation arrest 21


ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder


metachromatic leukodystrophy, juvenile form


Reduced leukocyte arylsulfatase A activity


neurodegeneration with brain iron accumulation 7


carnitine palmitoyl transferase II deficiency, neonatal form


Decreased serum bicarbonate concentration


acroosteolysis-keloid-like lesions-premature aging syndrome


radial ray hypoplasia-choanal atresia syndrome


developmental and epileptic encephalopathy 103


Continuous spike and waves during slow sleep


Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy


Post-vaccination varicella zoster virus infection


Increased proportion of effector memory CD4-positive T cells


Abnormal central memory CD8+ T cell proportion


Decreased PHA-induced T-cell proliferation


Recurrent viral upper respiratory tract infections


Deep dermal perivascular inflammatory infiltrate


sterile multifocal osteomyelitis with periostitis and pustulosis


Abnormality of urine calcium concentration


Reduced hepatic glyoxylate reductase activity


COG6-congenital disorder of glycosylation


mitochondrial complex 4 deficiency, nuclear type 8


alpha-N-acetylgalactosaminidase deficiency type 1


Increased urinary O-linked sialopeptides


Reduced tissue alpha-N-acetylgalactosaminidase activity


autosomal recessive nonsyndromic hearing loss 23


Bryant-Li-Bhoj neurodevelopmental syndrome 1


basal ganglia calcification, idiopathic, 6


High-frequency sensorineural hearing impairment


mitochondrial complex 4 deficiency, nuclear type 3


spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1


autosomal dominant nonsyndromic hearing loss 58


gastrointestinal defects and immunodeficiency syndrome 2


MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION


metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression


intellectual developmental disorder, autosomal recessive 70


Elevated circulating ribitol concentration


macular coloboma-cleft palate-hallux valgus syndrome


Contracture of the distal interphalangeal joint of the 5th finger


Abnormal central microtubular pair morphology of respiratory motile cilia


ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant


pulmonary atresia-intact ventricular septum syndrome


Neutropenia, Severe Congenital, Autosomal Recessive 3


Retinal Dystrophy, Reticular Pigmentary, of Posterior Pole


hallux varus-preaxial polysyndactyly syndrome


Abnormal preimplantation embryonic development


neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy


rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked


migraine, familial typical, susceptibility to, 2


autosomal recessive nonsyndromic hearing loss 85


glycogen storage disease due to muscle beta-enolase deficiency


atypical hemolytic-uremic syndrome with thrombomodulin anomaly


Abnormal circulating tryptophan concentration


ophthalmoplegia totalis with ptosis and miosis


mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria


Loss of ability to walk in early childhood


mitochondrial complex 1 deficiency, nuclear type 16


Decreased circulating complement C7 concentration


cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1


surfactant metabolism dysfunction, pulmonary, 5


Anti-granulocyte-macrophage colony stimulating factor antibody positivity


syndromic X-linked intellectual disability 17


autosomal dominant nonsyndromic hearing loss 18


frontotemporal dementia and/or amyotrophic lateral sclerosis 8


chronic atrial and intestinal dysrhythmia


lethal occipital encephalocele-skeletal dysplasia syndrome


Abnormal renal collecting system morphology


Chronic disseminated intravascular coagulation


steatocystoma multiplex-natal teeth syndrome


Increased ratio of deoxypyridinoline to pyridinoline cross-links in urine


Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio


Reduced procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 activity in cultured fibroblasts


modifier, X-linked, for Neurofunctional defects


Elevated circulating lathosterol concentration


Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts


Foam cells with lamellar inclusion bodies


congenital disorder of glycosylation, type IIy


Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness


Decreased circulating chenodeoxycholic acid concentration


intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type


autosomal recessive congenital ichthyosis 2


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13


LAMB2-related infantile-onset nephrotic syndrome


osteosclerosis with ichthyosis and fractures


Cortical thickening of long bone diaphyses


Abnormal diffusion weighted cerebral MRI morphology


short-rib thoracic dysplasia 9 with or without polydactyly


microcephalic primordial dwarfism due to RTTN deficiency


Cafe-au-lait macules with pulmonary stenosis


Skin-Hair-Eye Pigmentation, Variation In, 11


malignant hyperthermia, susceptibility to, 1


Mixed respiratory and metabolic acidosis


autosomal dominant nonsyndromic hearing loss 4B


intellectual developmental disorder with hypotonia and behavioral abnormalities


monocytopenia with susceptibility to infections


autosomal recessive nonsyndromic hearing loss 24


neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements


metachromatic leukodystrophy due to saposin B deficiency


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5


carnitine palmitoyl transferase II deficiency, severe infantile form


Amobarbital, deficient N-hydroxylation of


developmental and epileptic encephalopathy 93


autosomal dominant nonsyndromic hearing loss 12


Elevated circulating apolipoprotein B concentration


diabetes insipidus, nephrogenic, X-linked


developmental and epileptic encephalopathy, 37


nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome


developmental and epileptic encephalopathy, 64


ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type


mitochondrial DNA depletion syndrome 7 (hepatocerebral type)


muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3


Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology


amelogenesis imperfecta hypomaturation type 2A2


granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2


autosomal recessive nonsyndromic hearing loss 35


mitochondrial complex 1 deficiency, nuclear type 34


Hirschsprung disease, susceptibility to, 1


conductive deafness-malformed external ear syndrome


dominant pericentral pigmentary retinopathy


Elevated circulating saccharopine concentration


glycosylphosphatidylinositol biosynthesis defect 17


intellectual disability, autosomal recessive 59


Decreased circulating free T4 concentration


cornea guttata with anterior polar cataracts


immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia


Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine


cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1


autosomal recessive nonsyndromic hearing loss 46


muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15


breasts and/or nipples, aplasia or hypoplasia of, 2


ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1


cardiac septal defects with coarctation of the aorta


purine nucleoside phosphorylase deficiency


Increased circulating inosine concentration


Increased circulating guanosine concentration


severe dermatitis-multiple allergies-metabolic wasting syndrome


intellectual disability, autosomal recessive 13


craniometadiaphyseal osteosclerosis with hip dysplasia


Abnormality of superior crus of antihelix


TELO2-related intellectual disability-neurodevelopmental disorder


Reduced tissue argininosuccinate synthetase activity


autosomal recessive spinocerebellar ataxia 13


ciliary dyskinesia with defective radial spokes


Absent respiratory ciliary axoneme radial spokes


central hypoventilation syndrome, congenital, 3


autosomal dominant nonsyndromic hearing loss 70


combined oxidative phosphorylation deficiency 45


hypercarotenemia and vitamin A deficiency, autosomal recessive


Bosch-Boonstra-Schaaf optic atrophy syndrome


susceptibility to mononeuropathy of the median nerve, mild


globulin anomaly involving beta (2A)-globulin


Abnormality of the pancreatic islet cells


X-linked myopathy with postural muscle atrophy


infantile-onset autosomal recessive nonprogressive cerebellar ataxia


developmental and epileptic encephalopathy 89


autosomal recessive nonsyndromic hearing loss 96


Elevated urinary delta-aminolevulinic acid


Diminished tissue fumarylacetoacetate hydrolase activity


developmental and epileptic encephalopathy, 77


Dandy-Walker malformation-postaxial polydactyly syndrome


Thinning and bulging of the posterior fossa bones


Posterior fossa cyst at the fourth ventricle


Elevated imprint of the transverse sinuses


microcephaly 7, primary, autosomal recessive


colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome


Ehlers-Danlos syndrome, arthrochalasia type


Abnormal nervous system electrophysiology


developmental and epileptic encephalopathy 106


corneal dystrophy, punctiform and polychromatic pre-descemet


Posterior corneal stroma punctiform multicolored opacities


ventricular fibrillation, paroxysmal familial, type 1


atypical hemolytic-uremic syndrome with B factor anomaly


polycystic liver disease 3 with or without kidney cysts


dystonia, early-onset, and/or spastic paraplegia


developmental and epileptic encephalopathy, 25


Apneic episodes precipitated by illness, fatigue, stress


Generalized hypotonia due to defect at the neuromuscular junction


developmental and epileptic encephalopathy 113


frontotemporal dementia and/or amyotrophic lateral sclerosis 2


spondylometaphyseal dysplasia-cone-rod dystrophy syndrome


congenital myopathy with reduced type 2 muscle fibers


frontotemporal dementia and/or amyotrophic lateral sclerosis 4


cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3


Duane retraction syndrome 3 with or without deafness


cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder


Abnormal circulating eicosanoid concentration


autoimmune thyroid disease, susceptibility to, 3


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


X-linked intellectual disability, Cantagrel type


encephalopathy, acute, infection-induced, susceptibility to, 4


migraine with or without aura, susceptibility to, 5


benign recurrent intrahepatic cholestasis type 2


scalp defects-postaxial polydactyly syndrome


homocystinuria due to methylene tetrahydrofolate reductase deficiency


Diamond-Blackfan anemia 15 with mandibulofacial dysostosis


46,XX disorder of sex development-skeletal anomalies syndrome


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3


paternal uniparental disomy of chromosome 14


deafness with labyrinthine aplasia, microtia, and microdontia


autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis


intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism


Thinning of the substantia nigra pars compacta


congenital disorder of glycosylation, type IAA


developmental and epileptic encephalopathy, 23


interstitial lung disease due to ABCA3 deficiency


Absent bronchoalveolar surfactant-protein C


syndromic X-linked intellectual disability Shrimpton type


factor 5 excess with spontaneous thrombosis


orthostatic hypotensive disorder, Streeten type


encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8


developmental and epileptic encephalopathy, 24


spastic paraplegia 72b, autosomal recessive


microcephaly 20, primary, autosomal recessive


chromosome 22q11.2 microduplication syndrome


neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures


progressive familial heart block type IB


Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency


Increased proportion of CD4-positive T cells


erythrokeratodermia variabilis et progressiva 3


nemaline myopathy 5C, autosomal dominant


phosphoenolpyruvate carboxykinase deficiency, mitochondrial


combined oxidative phosphorylation defect type 17


cardiac, facial, and digital anomalies with developmental delay


permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome


nephropathy, progressive tubulointerstitial, with cholestatic liver disease


Pallidal Degeneration, Progressive, with Retinitis Pigmentosa


Progressive extrapyramidal muscular rigidity


combined immunodeficiency due to MALT1 deficiency


Reduced hepatic glucose-6-phosphate translocase activity


Decreased circulating calcifediol concentration


biliary, renal, neurologic, and skeletal syndrome


neurodevelopmental disorder with hypotonia, neuropathy, and deafness


Reduced hepatic fructose-1,6-phosphate aldolase activity


pigmented paravenous retinochoroidal atrophy


keratosis palmaris et plantaris-clinodactyly syndrome


preterm premature rupture of the membranes


intellectual developmental disorder with macrocephaly, seizures, and speech delay


lymphoblastic leukemia, acute, with lymphomatous features


internal carotid artery, spontaneous dissection of


Extracranial internal carotid artery dissection


facioscapulohumeral muscular dystrophy 1


microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma


microcephaly-congenital cataract-psoriasiform dermatitis syndrome


Elevated circulating methysterol concentration


Elevated circulating monomethyl sterol concentration


Elevated circulating dimethyl sterol concentration


epidermolysis bullosa simplex 6, generalized, with scarring and hair loss


autosomal recessive nonsyndromic hearing loss 18B


basal ganglia calcification, idiopathic, 5


autoinflammatory disease, systemic, with vasculitis


neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia


Reduced neutrophil myeloperoxidase activity


Diminished neutrophil myeloperoxidase activity


intellectual developmental disorder, autosomal dominant 63, with macrocephaly


intellectual disability, autosomal dominant 6


retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome


basal ganglia calcification, idiopathic, 8, autosomal recessive


hyperphosphatasia with intellectual disability syndrome 6


Aplasia/Hypoplasia of the distal phalanges of the hand


encephalopathy due to beta-mercaptolactate-cysteine disulfiduria


palmoplantar keratoderma, epidermolytic, 2


terminal osseous dysplasia-pigmentary defects syndrome


monosomy 7 myelodysplasia and leukemia syndrome 1


COG8-congenital disorder of glycosylation


severe early-childhood-onset retinal dystrophy


autosomal recessive nonsyndromic hearing loss 84B


intellectual developmental disorder, autosomal dominant 72


developmental and epileptic encephalopathy, 49


Increased circulating hypoxanthine concentration


facioscapulohumeral muscular dystrophy 2


epilepsy, idiopathic generalized, susceptibility to, 18


Elevated urinary succinylaminoimidazole carboxamide riboside level


aortic arch interruption, facial palsy, and retinal coloboma


Pulmonary interstitial lymphocyte infiltration


fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3


arrhythmogenic right ventricular dysplasia 9


Fibrofatty replacement of right ventricular myocardium


BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14


Reduced circulating xanthine oxidase activity


complex cortical dysplasia with other brain malformations 1


neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities


epidermolysis bullosa simplex 2F, with mottled pigmentation


Discrete 2 to 5-mm hyper- and hypopigmented macules


Mottled pigmentation of the trunk and proximal extremities


MYDRIATIC RESPONSE TO PHARMACOLOGIC AGENTS


Gaucher disease due to saposin C deficiency


catecholaminergic polymorphic ventricular tachycardia 5


FOLLICULAR LYMPHOMA, SUSCEPTIBILITY TO, 1


Osteolytic defects of the phalanges of the toes


porokeratosis plantaris palmaris et disseminata


Enlarged sagittal diameter of the cervical canal


hereditary angioedema with C1Inh deficiency


Decreased circulating C1-esterase inhibitor concentration


erythrokeratodermia variabilis et progressiva 2


Decreased specific antibody response to protein vaccine


Anti-tissue transglutaminase antibody positivity


subcutaneous panniculitis-like T-cell lymphoma


hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome


nephrosis-deafness-urinary tract-digital malformations syndrome


neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities


congenital stationary night blindness 1G


chromosome 16p12.1 deletion syndrome, 520kb


Complete heart block with broad QRS complexes


developmental and epileptic encephalopathy, 60


developmental and epileptic encephalopathy 110


Focal impaired awareness hemiclonic seizure


intellectual developmental disorder, autosomal dominant 66


skeletal dysplasia-epilepsy-short stature syndrome


Decreased anterioposterior diameter of lumbar vertebral bodies


pituitary hormone deficiency, combined, 2


Abnormal circulating adrenocorticotropin concentration


leukoencephalopathy with calcifications and cysts


catecholaminergic polymorphic ventricular tachycardia 1


Effort-induced polymorphic ventricular tachycardia


UV-induced skin damage, susceptibility to


hyperphosphatasia with intellectual disability syndrome 3


cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2


combined oxidative phosphorylation deficiency 54


Klippel-Feil syndrome 1, autosomal dominant


short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome


junctional epidermolysis bullosa with pyloric atresia


adult-onset proximal spinal muscular atrophy, autosomal dominant


leukocyte nuclear appendages, hereditary prevalence of


mitochondrial complex 4 deficiency, nuclear type 7


White mater abnormalities in the posterior periventricular region


neurodegeneration with brain iron accumulation 6


neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination


Decreased circulating ferritin concentration


El Hayek-Chahrour neurodevelopmental disorder


facial palsy, congenital, with ptosis and velopharyngeal dysfunction


mandibuloacral dysplasia with type B lipodystrophy


spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures


Delayed proximal femoral epiphyseal ossification


autosomal dominant nonsyndromic hearing loss 15


Supraventricular tachycardia with an accessory connection mediated pathway


visceral neuropathy, familial, 1, autosomal recessive


pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome


epidermolysis bullosa simplex 5C, with pyloric atresia


Ivory epiphyses of the phalanges of the hand


Patchy demyelination of subcortical white matter


Increased cellular sensitivity to UV light


syndromic X-linked intellectual disability 5


developmental delay with variable neurologic and brain abnormalities


congenital disorder of glycosylation type 1E


advance sleep phase syndrome, familial, 4


polycystic liver disease 4 with or without kidney cysts


autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency


neurodevelopmental disorder with spasticity, seizures, and brain abnormalities


parietal foramina with cleidocranial dysplasia


Distal/middle symphalangism of 5th finger


mitochondrial complex III deficiency nuclear type 1


syndromic multisystem autoimmune disease due to ITCH deficiency


atypical hemolytic-uremic syndrome with C3 anomaly


immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein


neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures


basal ganglia calcification, idiopathic, 1


Calcification of the small brain vessels


central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease


autosomal recessive nonsyndromic hearing loss 84A


hypogonadotropic hypogonadism 6 with or without anosmia


junctional epidermolysis bullosa, non-Herlitz type


Charcot-Marie-Tooth disease X-linked recessive 4


hepatitis, fulminant viral, susceptibility to


congenital heart defects, multiple types, 8, with or without heterotaxy


Left superior vena cava draining directly to the left atrium


dopa-responsive dystonia due to sepiapterin reductase deficiency


Abnormal circulating biopterin concentration


Reduced sepiapterin reductase activity in cultured fibroblasts


Abnormal circulating neopterin concentration


precursor B-cell acute lymphoblastic leukemia


SESSILE SERRATED POLYPOSIS CANCER SYNDROME


tremor of intention, ataxia, and lipofuscinosis


inflammatory bowel disease, immunodeficiency, and encephalopathy


optic atrophy 13 with retinal and foveal abnormalities


hypogonadotropic hypogonadism 3 with or without anosmia


immunodeficiency 113 with autoimmunity and autoinflammation


autosomal dominant nonsyndromic hearing loss 66


hyper-IgE recurrent infection syndrome 5, autosomal recessive


Reduced circulating C-reactive protein concecntration


central hypoventilation syndrome, congenital, 2, and autonomic dysfunction


leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism


agammaglobulinemia 8, autosomal dominant


constitutional megaloblastic anemia with severe neurologic disease


autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8


Kallmann syndrome with spastic paraplegia


Leydig cell insensitivity to gonadotropin


Reduced malonyl-CoA decarboxylase activity in cultured fibroblasts


neurodevelopmental disorder with involuntary movements


autosomal recessive nonsyndromic hearing loss 42


structural heart defects and renal anomalies syndrome


autosomal recessive nonsyndromic hearing loss 86


neurodevelopmental disorder with cerebellar atrophy and motor dysfunction


Elevated circulating transferrin concentration


thyroid hormone resistance, generalized, autosomal recessive


neonatal severe primary hyperparathyroidism


spastic diplegia and intellectual disability


immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia


encephalitis, acute, infection (viral)-induced, susceptibility to, 11


multiple epiphyseal dysplasia, Al-Gazali type


hereditary hyperferritinemia with congenital cataracts


autosomal recessive distal spinal muscular atrophy 2


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2


congenital disorder of glycosylation with defective fucosylation 1


cutis marmorata telangiectatica congenita


epidermolysis bullosa simplex 1C, localized


holoprosencephaly-radial heart renal anomalies syndrome


intellectual developmental disorder with gastrointestinal difficulties and high pain threshold


renal tubular acidosis, distal, 3, with or without sensorineural hearing loss


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1


hyperphosphatasia with intellectual disability syndrome 5


developmental and epileptic encephalopathy, 65


rhizomelic chondrodysplasia punctata type 3


Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts


neurodevelopmental disorder with motor and speech delay and behavioral abnormalities


maturity-onset diabetes of the young type 1


fibrosis of extraocular muscles, congenital, 2


familial cold autoinflammatory syndrome 2


hypogonadotropic hypogonadism 23 with or without anosmia


Decreased circulating dihydrotestosterone concentration


Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentration


Elevated CSF N-carbamyl-beta-alanine concentration


Elevated urinary ureidopropionic acid level


Reduced hepatic beta-ureidopropionase activity


Elevated urinary N-carbamyl-beta-aminoisobutyric acid level


Elevated urinary ureidoisobutyric acid level


Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration


Elevated circulating N-carbamoyl-beta-alanine concentration


alacrima, achalasia, and intellectual disability syndrome


neutropenia, severe congenital, 8, autosomal dominant


Bone marrow arrest at the promyelocytic stage


spondylometaphyseal dysplasia with corneal dystrophy


combined oxidative phosphorylation deficiency 28


autosomal dominant nonsyndromic hearing loss 48


multisystemic smooth muscle dysfunction syndrome


arrhythmogenic right ventricular dysplasia 4


T-wave inversion in the right precordial leads


Focal necrosis of right ventricular muscle cells


developmental delay with or without epilepsy


myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies


congenital merosin-deficient muscular dystrophy 1A


joint contractures, osteochondromas, and B-cell lymphoma


hereditary neuropathy with liability to pressure palsies


Hirschsprung disease-type D brachydactyly syndrome


myopathy, congenital, progressive, with scoliosis


intellectual disability, autosomal recessive 30


lower motor neuron syndrome with late-adult onset


short stature, microcephaly, and endocrine dysfunction


Failure to elevate ammonia on ischemic exercise


Reduced muscle glycogen phosphorylase activity


Failure to elevate lactate upon ischemic exercise test


autoinflammation with episodic fever and immune dysregulation


mitochondrial complex 1 deficiency, nuclear type 2


epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive


Duplication of the distal phalanx of the hallux


Unilateral absence of pectoralis major muscle


Unilateral hypoplasia of pectoralis major muscle


renal hypomagnesemia 5 with ocular involvement


developmental and epileptic encephalopathy, 41


mitochondrial complex 1 deficiency, nuclear type 14


autosomal recessive limb-girdle muscular dystrophy type 2G


Chronic rhinitis due to narrow nasal airway


Abnormality of the first metatarsal bone


Progressive cervical vertebral spine fusion


cerebral sclerosis, diffuse, scholz type


hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism


neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities


Reduced tissue UDP-glucuronyl-transferase activity


neutropenia, severe congenital, 1, autosomal dominant


intellectual developmental disorder 60 with seizures


blepharophimosis - intellectual disability syndrome, MKB type


Abnormal electrophysiology of sinoatrial node origin


cerebral palsy, spastic quadriplegic, 2

Autosomal dominant inheritance with maternal imprinting


IFAP syndrome 1, with or without BRESHECK syndrome


autosomal dominant Ehlers-Danlos syndrome, vascular type


Premature delivery because of cervical insufficiency or membrane fragility


Combined cystic and ground-glass pattern on pulmonary HRCT


Hypermobility of distal interphalangeal joints


Gonadal tissue inappropriate for external genitalia or chromosomal sex


microcephaly 3, primary, autosomal recessive


cleft palate, proliferative retinopathy, and developmental delay


Abnormal morphology of female internal genitalia


combined oxidative phosphorylation defect type 7


chromosome 8Q12.1-q21.2 deletion syndrome


spastic paraplegia 80, autosomal dominant


mitochondrial complex 4 deficiency, nuclear type 16


DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6


mitochondrial complex 4 deficiency, nuclear type 4


developmental and epileptic encephalopathy, 40


neurodevelopmental disorder with central and peripheral motor dysfunction


autosomal recessive nonsyndromic hearing loss 17


hypercholesterolemia, autosomal dominant, 3


developmental delay with variable intellectual impairment and behavioral abnormalities


metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome


auditory neuropathy-optic atrophy syndrome


developmental and epileptic encephalopathy, 33


congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency


spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome


Abnormal calcification of the carpal bones


Triangular shaped distal phalanges of the hand


Progressive calcification of costochondral cartilage


Trichorhinophalangeal Syndrome, Type III


congenital diarrhea 5 with tufting enteropathy


Ultra-low vision with retained light perception


progressive familial heart block type II


Complete heart block with narrow QRS complexes


developmental and epileptic encephalopathy, 9


intellectual developmental disorder with abnormal behavior, microcephaly, and short stature


hyperinsulinemic hypoglycemia, familial, 2


neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline


polyposis, intestinal, with multiple exostoses


epilepsy, juvenile myoclonic, susceptibility to, 10


epidermolytic hyperkeratosis 2A, autosomal dominant


Cleft at the superior portion of the pinna


spondyloepimetaphyseal dysplasia with joint laxity, type 3


immunodeficiency 106, susceptibility to viral infections


factor VII and Factor VIII, combined deficiency of


tubulointerstitial kidney disease, autosomal dominant, 2


facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome


split hand-foot malformation 1 with sensorineural hearing loss


cutaneous photosensitivity-lethal colitis syndrome


intellectual disability, autosomal dominant 22


Decreased Arden ratio of electrooculogram


rhizomelic chondrodysplasia punctata type 2


Decreased circulating plasmalogen concentration


Stippled calcification proximal humeral epiphyses


Reduced Acyl-CoA:dihydroxyacetone phosphate acyltransferase activity in cultured fibroblasts


intellectual disability, autosomal recessive 14


generalized epilepsy with febrile seizures plus, type 1


congenital myopathy 2a, typical, autosomal dominant


hennekam lymphangiectasia-lymphedema syndrome 3


maturity-onset diabetes of the young type 7


cerebral cavernous malformation 4

Autosomal dominant germline de novo mutation


Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive


developmental and epileptic encephalopathy, 31B


chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant


juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome


pheochromocytoma-islet cell tumor syndrome


Elevated circulating N,N-dimethylglycine concentration


Elevated urinary N,N-dimethylglycine level


frontotemporal dementia and/or amyotrophic lateral sclerosis 6


neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies


myasthenic syndrome, congenital, 23, presynaptic


calvarial doughnut lesions-bone fragility syndrome


diarrhea 10, protein-losing enteropathy type


Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1


combined oxidative phosphorylation deficiency 29


neurodevelopmental disorder with microcephaly and dysmorphic facies


punctate palmoplantar keratoderma type III


myelodysplastic syndrome with single lineage dysplasia


jaundice, familial obstructive, of infancy


capillary malformation-arteriovenous malformation 2


neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment


intellectual disability, autosomal recessive 47


spinocerebellar ataxia, autosomal recessive 28


cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction


amyloidosis, primary localized cutaneous, 2


syndromic X-linked intellectual disability Lubs type


punctate palmoplantar keratoderma type 2


heart defect - tongue hamartoma - polysyndactyly syndrome


arrhythmogenic cardiomyopathy with wooly hair and keratoderma


diabetes mellitus, transient neonatal, 1


developmental and epileptic encephalopathy, 67


severe combined immunodeficiency due to LAT deficiency


bleeding disorder, platelet-type, 13, susceptibility to


Impaired thromboxane A2 agonist-induced platelet aggregation


epidermolysis bullosa simplex 5A, Ogna type


Skin fragility with non-scarring blistering


multiple system atrophy 1, susceptibility to


ophthalmoplegia, external, with rib and vertebral anomalies


palmoplantar keratoderma, nonepidermolytic, focal 1


HEMOGLOBIN, HIGH ALTITUDE ADAPTATION PHENOTYPE


thrombophilia due to protein S deficiency, autosomal dominant


catecholaminergic polymorphic ventricular tachycardia 3


auditory neuropathy, autosomal dominant 2


primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection


autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency


Elevated circulating deoxypyridinoline concentration


autosomal recessive nonsyndromic hearing loss 29


ACTH-independent macronodular adrenal hyperplasia 1


rhizomelic dysplasia, Patterson-Lowry type


aplasia cutis congenita-intestinal lymphangiectasia syndrome


autoimmune pulmonary alveolar proteinosis


intellectual developmental disorder, autosomal dominant 68


bilateral parasagittal parieto-occipital polymicrogyria


developmental and epileptic encephalopathy 109


neurodevelopmental disorder with language delay and seizures


microphthalmia, isolated, with coloboma 3


avascular necrosis of femoral head, primary, 1


short-rib thoracic dysplasia 20 with polydactyly


microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability


papillomatosis, confluent and reticulated


neurodevelopmental disorder with impaired speech and hyperkinetic movements


polymicrogyria with or without vascular-type Ehlers-Danlos syndrome


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4


Hirschsprung disease-hearing loss-polydactyly syndrome


lung agenesis-heart defect-thumb anomalies syndrome


Ivory epiphyses of the distal phalanges of the hand


Cone-shaped epiphyses of the proximal phalanges of the hand


Swelling of proximal interphalangeal joints


proximal myopathy with extrapyramidal signs


Hypoplastic anterior limbs of the internal capsule


epilepsy, idiopathic generalized, susceptibility to, 15


agammaglobulinemia 10, autosomal dominant


Transiently decreased total neutrophil count


choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome


gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy


mitochondrial complex 4 deficiency, nuclear type 17


developmental and epileptic encephalopathy, 31A


neurodevelopmental disorder with alopecia and brain abnormalities


severe combined immunodeficiency due to CTPS1 deficiency


Reduced mucosal-associated invariant T cell proportion


autosomal dominant nonsyndromic hearing loss 51


myopathy, autophagic vacuolar, infantile-onset


muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome


Leber congenital amaurosis with early-onset deafness


neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities


Reduced circulating interferon gamma concentration


Generalized reticulate brown pigmentation


Reduced leukocyte arylsulfatase B activity


neurodegeneration with brain iron accumulation 5


macrothrombocytopenia, isolated, 2, autosomal dominant


Abnormal circulating enzyme concentration or activity


thiamine-responsive megaloblastic anemia syndrome


spondyloepiphyseal dysplasia, Stanescu type


cholestasis, progressive familial intrahepatic, 10


Abnormality of mucopolysaccharide metabolism


thrombocytopenia 12 with or without myopathy


STING-associated vasculopathy with onset in infancy


deafness, unilateral, with delayed endolymphatic hydrops


NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 2


diaphragmatic hernia 4, with cardiovascular defects


severe intellectual disability-progressive spastic diplegia syndrome


arthrogryposis, renal dysfunction, and cholestasis 2


X-linked cone dysfunction syndrome with myopia


autosomal recessive cerebellar ataxia-saccadic intrusion syndrome


mitochondrial complex 1 deficiency, nuclear type 15


Increased anterioposterior diameter of thorax


neuronopathy, distal hereditary motor, type 2C


autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity


hypogonadotropic hypogonadism 7 with or without anosmia


vertebral anomalies and variable endocrine and T-cell dysfunction


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4


Bullet-shaped middle phalanges of the hand


combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1


autosomal recessive nonsyndromic hearing loss 124


cutis laxa, autosomal recessive, type 1d


intellectual disability, autosomal recessive 19


sensory ataxic neuropathy, dysarthria, and ophthalmoparesis


Atrophy/Degeneration involving the spinal cord


amyotrophic lateral sclerosis, susceptibility to, 24


Apical muscular ventricular septal defect


Leber-like hereditary optic neuropathy, autosomal recessive 2


Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis


Decreased circulating androstenedione concentration


Elevated circulating 17-hydroxyprogesterone concentration


congenital stationary night blindness 1B


amyotrophic lateral sclerosis with polyglucosan bodies


heterotaxy, visceral, 9, autosomal, with male infertility


Recurrent loss of toenails and fingernails


multiple epiphyseal dysplasia, Beighton type


short stature-optic atrophy-Pelger-Huët anomaly syndrome


autosomal recessive nonsyndromic hearing loss 18A


autosomal recessive congenital ichthyosis 6


retinitis pigmentosa and erythrocytic microcytosis


respiratory infections, recurrent, and failure to thrive with or without diarrhea


corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome


Loss of Purkinje cells in the cerebellar vermis


proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis


arrhythmogenic right ventricular dysplasia 3


myopathy due to myoadenylate deaminase deficiency


Reduced muscle myoadenylate deaminase activity


coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness


ALG1-congenital disorder of glycosylation


COG5-congenital disorder of glycosylation


maturity-onset diabetes of the young type 2


vitiligo-associated multiple autoimmune disease susceptibility 1


angioma serpiginosum, autosomal dominant


autosomal recessive nonsyndromic hearing loss 30


chronic myelogenous leukemia, BCR-ABL1 positive


Ph-positive acute lymphoblastic leukemia


Dynein arm defect of respiratory motile cilia


porokeratosis 3, disseminated superficial actinic type


normophosphatemic familial tumoral calcinosis


developmental and epileptic encephalopathy 6B


visceral neuropathy, familial, 2, autosomal recessive


spastic paraplegia-severe developmental delay-epilepsy syndrome


autosomal recessive congenital ichthyosis 3


Reduced erythrocyte galactokinase activity


Ehlers-Danlos syndrome, musculocontractural type 2


autosomal dominant nonsyndromic hearing loss 4A


hypogonadotropic hypogonadism 22 with or without anosmia


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12


congenital generalized lipodystrophy type 3


Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young


Usmani-Riazuddin syndrome, autosomal dominant


spondyloepimetaphyseal dysplasia, sponastrime type


chromosome 16p12.2-p11.2 deletion syndrome


autosomal dominant nonsyndromic hearing loss 41


Abnormal facility in opposing the shoulders


cerebral amyloid angiopathy, APP-related


Abnormal morphology of right ventricular trabeculae


Dysfunctional alternative complement pathway


posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome


Posterior fusion of lumbosacral vertebrae


intellectual disability, X-linked, syndromic, Houge type


GTP cyclohydrolase I deficiency with hyperphenylalaninemia


Increased CSF phenylalanine concentration


developmental and epileptic encephalopathy, 84


mitochondrial complex 1 deficiency, nuclear type 12


Pointed proximal second through fifth metacarpals


intellectual disability, autosomal dominant 42


proteasome-associated autoinflammatory syndrome 6


Elevated circulating tumor necrosis factor alpha concentration


Increased circulating interleukin 10 concentration


Increased circulating interleukin 18 concentration


Elevated circulating soluble CD25 concentration


Elevated circulating myoglobin concentration


split-hand and split-foot with hypodontia


hereditary hemorrhagic telangiectasia type 4


Arteriovenous fistulas of celiac and mesenteric vessels


Venous varicosities of celiac and mesenteric vessels


developmental and epileptic encephalopathy, 3


autosomal recessive nonsyndromic hearing loss 21


Reduced circulating alpha-L-fucosidase activity


intellectual disability, autosomal recessive 33


neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder


Elevated urinary indoleacetic acid level


Hereditary Non-Polyposis Colon Cancer Type 2


neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities


mitochondrial complex 1 deficiency, nuclear type 13


developmental and epileptic encephalopathy, 42


spondylometaphyseal dysplasia, Schmidt type


Increased carotid artery intimal medial thickness


benign familial neonatal-infantile seizures 1


vitamin K-dependent clotting factors, combined deficiency of, type 2


syndromic X-linked intellectual disability 94


vertebral, cardiac, renal, and limb defects syndrome 1


peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome


Contracture of the distal interphalangeal joint of the 4th finger


Reduced tissue arginine:glycine amidinotransferase activity


flat face-microstomia-ear anomaly syndrome


developmental and epileptic encephalopathy 102


neurodevelopmental disorder with visual defects and brain anomalies


intellectual disability, autosomal recessive 66


autosomal recessive spinocerebellar ataxia 15


autosomal recessive limb-girdle muscular dystrophy type 2M


generalized epilepsy with febrile seizures plus, type 12


developmental and epileptic encephalopathy 107


erythrokeratodermia variabilis et progressiva 1


X-linked mixed hearing loss with perilymphatic gusher


facial paresis, hereditary congenital, 2


migraine with or without aura, susceptibility to, 3


developmental and epileptic encephalopathy, 2


neurodevelopmental disorder with microcephaly, short stature, and speech delay


intellectual disability, autosomal recessive 1


spondyloepiphyseal dysplasia with congenital joint dislocations


Diminished sulfotransferase activity in cultured fibroblasts


adducted thumbs-arthrogryposis syndrome, Christian type


glycosylphosphatidylinositol biosynthesis defect 21


pruritic urticarial papules and plaques of pregnancy


SLC35A2-congenital disorder of glycosylation


mitochondrial complex 4 deficiency, nuclear type 19


autosomal recessive spinocerebellar ataxia 7


susceptibility to angioedema induced by ACE inhibitors


immunodeficiency 93 and hypertrophic cardiomyopathy


autosomal dominant nonsyndromic hearing loss 2B


Elevated CSF argininosuccinic acid concentration


Increased circulating argininosuccinic acid


polyglucosan body myopathy 1 with or without immunodeficiency


spinocerebellar ataxia, autosomal recessive 27


developmental and epileptic encephalopathy 116


autosomal recessive limb-girdle muscular dystrophy type 2Y


trichomegaly-retina pigmentary degeneration-dwarfism syndrome


neuronopathy, distal hereditary motor, type 2B


Sonographic non-visualized fetal bladder


Dysfunction of lateral corticospinal tracts


congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome


basal cell carcinoma, susceptibility to, 1


mitochondrial trifunctional protein deficiency


intellectual disability, autosomal dominant 38


developmental and epileptic encephalopathy, 61


X-linked intellectual disability-craniofacioskeletal syndrome


autosomal recessive limb-girdle muscular dystrophy type 2J


autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive


hyperthermia, cutaneous, with headaches and nausea


intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked


hypogonadism with low-grade mental deficiency and microcephaly


peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain


Reduced tissue aspartylglucosaminidase activity


neurodevelopmental disorder with dystonia and seizures


developmental and epileptic encephalopathy, 74


nemaline myopathy 5B, autosomal recessive, childhood-onset


Fatty replacement of ventricular myocardial tissue


mitochondrial myopathy-lactic acidosis-deafness syndrome


epidermolysis bullosa dystrophica Neurotrophica


neuronopathy, distal hereditary motor, type 5B


hypotonia-failure to thrive-microcephaly syndrome


Reduced circulating leukotriene C4 concentration


glutathione synthetase deficiency with 5-oxoprolinuria


Decreased circulating complement C6 concentration


Reduced acetaldehyde dehydrogenase level


autosomal recessive frontotemporal pachygyria


intellectual disability, autosomal recessive 58


glycosylphosphatidylinositol biosynthesis defect 18


autosomal dominant nonsyndromic hearing loss 7


developmental and epileptic encephalopathy, 17


immunodeficiency 83, susceptibility to viral infections


isolated growth hormone deficiency, type 4


familial encephalopathy with neuroserpin inclusion bodies


cardioauditory syndrome of Sanchez Cascos


multiple mitochondrial dysfunctions syndrome 7


arthrogryposis-hyperkeratosis syndrome, lethal form


X-linked intellectual disability with marfanoid habitus


46,XX ovarian dysgenesis-short stature syndrome


syndromic X-linked intellectual disability Abidi type


neuronopathy, distal hereditary motor, autosomal recessive 3


vitamin D hydroxylation-deficient rickets, type 1B


autosomal recessive congenital ichthyosis 8


spastic paraplegia 89, autosomal recessive


neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies


obesity due to congenital leptin deficiency


ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis


microcephaly 6, primary, autosomal recessive


Aplasia of the middle phalanx of the hand


intellectual developmental disorder and retinitis pigmentosa; IDDRP


nephrogenic syndrome of inappropriate antidiuresis


Papillary dermis eosinophilic hyaline material


Reduced epidermal extracellular matrix protein 1 protein expression


Charcot-Marie-Tooth disease, dominant intermediate A


autosomal recessive limb-girdle muscular dystrophy type 2X


obesity due to leptin receptor gene deficiency


isolated thyroid-stimulating hormone deficiency


syndromic X-linked intellectual disability Siderius type


glycogen storage disease due to GLUT2 deficiency


familial chronic myelocytic leukemia-like syndrome


hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency


respiratory papillomatosis, juvenile recurrent, congenital


hypouricemia, hypercalcinuria, and decreased bone density


autosomal dominant pseudohypoaldosteronism type 1


epidermolysis bullosa simplex 1A, generalized severe


glutathione synthetase deficiency without 5-oxoprolinuria


vitreoretinopathy with phalangeal epiphyseal dysplasia


Abnormal epiphysis morphology of the phalanges of the hand


nystagmus 3, congenital, autosomal dominant


Elevated urinary mevalonate lactone level


Elevated circulating methylsuccinic acid concentration


Elevated methylhex-dienedioic level by MRS


Elevated urine 3-methyladipic acid level


Increased circulating farnesol concentration


attention deficit-hyperactivity disorder, susceptibility to, 7


Mayer-Rokitansky-Kuster-Hauser syndrome type 1


Iridescent posterior subcapsular cataract


autosomal dominant limb-girdle muscular dystrophy type 1F


hyperlipoproteinemia, type II, and deafness


autosomal dominant nocturnal frontal lobe epilepsy 2


microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome


intellectual developmental disorder, autosomal recessive 79


neurodevelopmental disorder with hypotonia and brain abnormalities


progressive supranuclear palsy-parkinsonism syndrome


hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome


mitochondrial myopathy with a defect in mitochondrial-protein transport


skeletal defects, genital hypoplasia, and intellectual disability


bladder exstrophy-epispadias-cloacal extrophy complex


spondyloepiphyseal dysplasia, nishimura type


Symphalangism affecting the proximal phalanges of the hand


spondyloepimetaphyseal dysplasia, Li-Shao-Li type


keratosis follicularis-dwarfism-cerebral atrophy syndrome


spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis


facial paresis, hereditary congenital, 3


Cardiomyopathy, familial hypertrophic, 31


surfactant metabolism dysfunction, pulmonary, 2


combined oxidative phosphorylation deficiency 39


heterotopia, periventricular, X-linked dominant


intellectual developmental disorder, autosomal recessive 69


hypomagnesemia 7, renal, with or without dilated cardiomyopathy


syndactyly-telecanthus-anogenital and renal malformations syndrome


hypertrophic osteoarthropathy, primary, autosomal recessive, 1


congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency


spinal muscular atrophy, facioscapulohumeral type


thrombocytopenia with elevated serum IgA and renal disease


agammaglobulinemia 6, autosomal recessive


congenital stationary night blindness 1A


Cellular hypersensitivity to mitomycin C


diaphragmatic defect-limb deficiency-skull defect syndrome


intellectual disability, autosomal recessive 16


FRAGILE SITE, DISTAMYCIN A TYPE, RARE, FRA(16)(q22.1)


immunodeficiency 121 with autoinflammation


Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity


Prominent proximal interphalangeal joints


ectodermal dysplasia-syndactyly syndrome 1


dysmorphism-conductive hearing loss-heart defect syndrome


SSR4-congenital disorder of glycosylation


myoclonic epilepsy, juvenile, susceptibility to, 4


encephalopathy, acute, infection-induced, susceptibility to, 9


short tarsus-absence of lower eyelashes syndrome


autosomal recessive nonsyndromic hearing loss 1B


congenital dyserythropoietic anemia type 2


neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities


neurodevelopmental disorder with microcephaly, seizures, and brain atrophy


oculodentodigital dysplasia, autosomal recessive


Fifth finger distal phalanx clinodactyly


breasts and/or nipples, aplasia or hypoplasia of, 1


melanoma and neural system tumor syndrome


mitochondrial complex 4 deficiency, nuclear type 18


intellectual disability, autosomal dominant 34


frontotemporal dementia and/or amyotrophic lateral sclerosis 3


anemia, nonspherocytic hemolytic, due to G6PD deficiency


Decreased glucose-6-phosphate dehydrogenase level in blood


autosomal dominant hypophosphatemic rickets


agenesis of the corpus callosum with peripheral neuropathy


pyruvate dehydrogenase phosphatase deficiency


Pupillary hypersensitivity to parasympathomimetic agents


severe neonatal-onset encephalopathy with microcephaly


angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert


tall stature-scoliosis-macrodactyly of the great toes syndrome


Increased urinary type 1 collagen N-terminal telopeptide level


Abnormal circulating beta-C-terminal telopeptide concentration


ciliary discoordination due to random ciliary orientation


Abnormal four chamber view of the fetal heart


ciliary dyskinesia, primary, 48, without situs inversus


mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome


neurodevelopmental disorder with poor growth and skeletal anomalies


cholestasis, progressive familial intrahepatic, 7, with or without hearing loss


Elevated circulating gamma-aminobutyric acid concentration


maturity-onset diabetes of the young type 11


methylmalonic aciduria and homocystinuria type cblD


Decreased methylmalonyl-CoA mutase activity


hereditary sclerosing poikiloderma with tendon and pulmonary involvement


familial acute necrotizing encephalopathy


developmental and epileptic encephalopathy, 43


fibrosis of extraocular muscles, congenital, 5


autosomal recessive multiple pterygium syndrome


tall stature-intellectual disability-renal anomalies syndrome


spondylometaphyseal dysplasia, Kozlowski type


mitochondrial complex 1 deficiency, nuclear type 11


hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome


vertebral, cardiac, renal, and limb defects syndrome 2


Elevated circulating 3-hydroxykynurenine concentration


sodium-potassium-ATPase activity of red cell


intellectual disability, autosomal recessive 27


multiple congenital anomalies-hypotonia-seizures syndrome 2


Starry sky appearance on hepatic sonography


Abnormality of peripheral nervous system electrophysiology


Atrophy/Degeneration affecting the cerebrum


myopathy due to calsequestrin and SERCA1 protein overload


Muscle fiber calsequestrin 1-containing inclusion bodies


developmental and epileptic encephalopathy 115


hypothyroidism, congenital, nongoitrous, 9


congenital generalized lipodystrophy type 1


Insulin-resistant diabetes mellitus at puberty


Generalized muscular appearance from birth


tubulointerstitial kidney disease, autosomal dominant 6


Glomerular basement membrane electron dense deposits


mitochondrial complex 1 deficiency, nuclear type 30


neuronopathy, distal hereditary motor, autosomal recessive 10


inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1


neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures


Inability to walk by childhood/adolescence


X-linked intellectual disability-cubitus valgus-dysmorphism syndrome


Abnormal retinal nerve fiber layer morphology


craniofacial anomalies and anterior segment dysgenesis syndrome


Elevated bone marrow ring sideroblast count


humerofemoral hypoplasia with radiotibial ray deficiency


telangiectasia, hereditary hemorrhagic, type 5


epilepsy, childhood absence, susceptibility to, 5


cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies


hypoinsulinemic hypoglycemia and body hemihypertrophy


lymphedema-posterior choanal atresia syndrome


developmental and epileptic encephalopathy, 83


mitochondrial DNA depletion syndrome 6 (hepatocerebral type)


Osteomyelitis leading to amputation due to slow healing fractures


Charcot-Marie-tooth disease, axonal, type 2DD


spondyloepimetaphyseal dysplasia, Genevieve type


intellectual disability, short stature, facial anomalies, and joint dislocations


microcephaly, short stature, and impaired glucose metabolism 1


ciliary dyskinesia, primary, 47, and lissencephaly


Elevated circulating biliverdin concentration


Reduced muscle glycogen debrancher enzyme activity


Abnormal branching pattern of the aortic arch


Left aortic arch with retroesophageal right subclavian artery


Contracture of the proximal interphalangeal joint of the 2nd toe


developmental and epileptic encephalopathy, 51


autosomal recessive nonsyndromic hearing loss 38


prolactin deficiency with obesity and enlarged testes


intellectual disability, autosomal dominant 15


developmental delay with autism spectrum disorder and gait instability


hypogonadotropic hypogonadism 20 with or without anosmia


cataract, congenital, with mental impairment and dentate gyrus atrophy


intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome


Postural hypotension with compensatory tachycardia


Decreased number of small peripheral myelinated nerve fibers


multiple mitochondrial dysfunctions syndrome 1


Elevated circulating 2-hydroxybutyric acid concentration


spastic paraparesis-cataracts-speech delay syndrome


Amyloid deposition in the vitreous humor


X-linked diffuse leiomyomatosis-Alport syndrome


spastic paraplegia 81, autosomal recessive


autosomal dominant nonsyndromic hearing loss 64


hemolytic disease of fetus and newborn, RH-induced


Multinucleated giant chondrocytes in epiphyseal cartilage


short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome


Increased insulin like growth factor binding protein acid labile subunit concentration


spinocerebellar ataxia, autosomal recessive 33


neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation


neurodevelopmental disorder with progressive spasticity and brain abnormalities


Abnormal circulating selenium concentration


congenital disorder of glycosylation, type ICC


multiple acyl-CoA dehydrogenase deficiency


Elevated urinary 5-hydroxyhexanoic acid level


Electron transfer flavoprotein-ubiquinone oxidoreductase defect


congenital myopathy with internal nuclei and atypical cores


Charcot-Marie-Tooth disease axonal type 2F


osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension


nonimmune chronic idiopathic neutropenia of adults


severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome


Short chordae tendineae of the mitral valve


Short chordae tendineae of the tricuspid valve


congenital disorder of glycosylation, type IIbb


PMM2-congenital disorder of glycosylation


Abnormal subcutaneous fat tissue distribution


Reduced tissue phosphomannomutase activity


distal myopathy with anterior tibial onset


developmental and epileptic encephalopathy, 56


methylmalonic aciduria and homocystinuria type cblC


mitochondrial complex 1 deficiency, nuclear type 8


Childhood onset sensorineural hearing impairment


combined oxidative phosphorylation defect type 4


mitochondrial complex 1 deficiency, nuclear type 3


autosomal dominant mitochondrial myopathy with exercise intolerance


malignant hyperthermia, susceptibility to, 2


Increased circulating beta-C-terminal telopeptide concentration


osteoporosis, childhood- or juvenile-onset, with developmental delay


COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5


hypotaurinemic retinal degeneration and cardiomyopathy


Rudimentary postaxial polydactyly of hands


COG7-congenital disorder of glycosylation


muscular dystrophy, limb-girdle, autosomal recessive 29


neuronopathy, distal hereditary motor, type 5C


Charcot-Marie-Tooth disease axonal type 2P


palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome


infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome


short-rib thoracic dysplasia 19 with or without polydactyly


DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7


intellectual disability, autosomal recessive 23


Schistosoma mansoni infection, susceptibility/resistance to


linear skin defects with multiple congenital anomalies 2


channelopathy-associated congenital insensitivity to pain, autosomal recessive


ciliary dyskinesia with transposition of ciliary microtubules


carnitine palmitoyl transferase II deficiency, myopathic form


neurodegeneration, childhood-onset, with progressive microcephaly


familial infantile bilateral striatal necrosis


intellectual developmental disorder, autosomal dominant 75


spastic paraplegia with associated extrapyramidal signs


keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome


Linear arrays of macular hyperkeratoses in flexural areas


Elevated urinary N-tau-ribosylhistidine level


developmental and epileptic encephalopathy 91


anti-glomerular basement membrane disease


Anti-glomerular basement membrane-antibody positivity


self-limited childhood occipital epilepsy


amelogenesis imperfecta hypomaturation type 2A3


congenital muscular dystrophy due to LMNA mutation


migraine with or without aura, susceptibility to, 6


congenital dyserythropoietic anemia type 3


cortical dysplasia-focal epilepsy syndrome


Focal impaired awareness emotional seizure with fear/anxiety/panic


Generalized convulsive status epilepticus


palmoplantar keratoderma i, striate, focal, or diffuse


Streaks of hyperkeratosis along each finger onto the palm


chondrodysplasia punctata, tibial-metacarpal type


combined oxidative phosphorylation deficiency 38


thyrotoxic periodic paralysis, susceptibility to, 2


developmental and epileptic encephalopathy, 30


neurodevelopmental disorder with seizures and brain atrophy


congenital disorder of glycosylation, type Iw, autosomal dominant


multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome


epilepsy, idiopathic generalized, susceptibility to, 8


hypertelorism, microtia, facial clefting syndrome


Short-rib thoracic dysplasia 22 without polydactyly


intellectual developmental disorder, autosomal dominant 67


spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3


intellectual developmental disorder with speech delay and axonal peripheral neuropathy


radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome


myopathy, reducing body, X-linked, early-onset, severe


congenital fibrosis of extraocular muscles type 1


hyperinsulinism due to glucokinase deficiency


congenital stationary night blindness 2A


Abnormal amplitude of light-adapted flicker electroretinogram


short-rib thoracic dysplasia 15 with polydactyly


granulomatous disease, chronic, X-linked


Deficiency or absence of cytochrome b(-245)


neuronopathy, distal hereditary motor, autosomal dominant 1


anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism


X-linked non progressive cerebellar ataxia


cortical dysplasia, complex, with other brain malformations 11


microcornea-glaucoma-absent frontal sinuses syndrome


pulmonary hypertension, primary, autosomal recessive


cerebellar ataxia and neurosensory deafness


developmental and epileptic encephalopathy, 18


BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7


neurodevelopmental disorder with dysmorphic facies and variable seizures


microphthalmia, isolated, with coloboma 5


oocyte/zygote/embryo maturation arrest 20


developmental and epileptic encephalopathy, 16


autosomal dominant Charcot-Marie-Tooth disease type 2W


intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies


congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency


Increased circulating 17 hydroxypregnenolone concentration


Impaired cortisol response to corticotropin releasing hormone stimulation test


severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome


craniometaphyseal dysplasia, autosomal recessive


cerebroretinal microangiopathy with calcifications and cysts 3


spondyloarthropathy, susceptibility to, 2


methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency


Altered location of the longitudinal column in the fibrous sheath


Parkinson disease 13, autosomal dominant, susceptibility to


pulmonary atresia with ventricular septal defect


microphthalmia with brain and digit anomalies


Abnormality of the hypothalamus-pituitary axis


maturity-onset diabetes of the young type 4


dystonia 37, early-onset, with striatal lesions


T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant


autosomal recessive familial Mediterranean fever


cholestasis, intrahepatic, of pregnancy, 3


Increased serum bile acid concentration during pregnancy


Abnormal liver function tests during pregnancy


neuropathy, congenital hypomyelinating, 2


Reduced circulating 6-pyruvoyltetrahydropterin synthase activity


Reduced tissue carnitine-acylcarnitine translocase activity


microcephaly, short stature, and impaired glucose metabolism 2


granulomatous disease, chronic, autosomal recessive, cytochrome b-negative


spinocerebellar atrophy with pupillary paralysis


neurodevelopmental disorder with seizures and brain abnormalities


intellectual disability-sparse hair-brachydactyly syndrome


thrombophilia due to activated protein C resistance


hydroxyacyl glutathione hydrolase deficiency


mitochondrial pyruvate carrier deficiency


Increased level of galactitol in red blood cells


Increased level of galactonate in red blood cells


Dyskeratosis Congenita, Autosomal Dominant 3


hemolytic anemia due to pyrimidine 5' nucleotidase deficiency


Reduced circulating pyrimidine 5-prime-nucleotidase activity


Decreased number of sternal ossification centers


neurodevelopmental disorder with hypotonia and dysmorphic facies


Short metacarpals with rounded proximal ends


Noonan syndrome-like disorder with loose anagen hair 2


hepatic veno-occlusive disease-immunodeficiency syndrome


Lateral displacement of the femoral head


global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies


Charcot-Marie-Tooth disease recessive intermediate A


neurodegeneration with ataxia and late-onset optic atrophy


intellectual developmental disorder with hypertelorism and distinctive facies


capillary malformation-arteriovenous malformation 1


persistent hyperplastic primary vitreous, autosomal recessive


Ultra-low vision with no light perception


Urinary excretion of sialylated oligosaccharides


DEFECTIVE INTERFERING PARTICLE INDUCTION, CONTROL OF


intellectual developmental disorder, autosomal dominant 70


pelvic dysplasia-arthrogryposis of lower limbs syndrome


spondyloepiphyseal dysplasia, kondo-fu type


Elevated circulating beta-glucuronidase activity


neutropenia, lethal congenital, with eosinophilia


autosomal dominant nonsyndromic hearing loss 67


autosomal dominant nonsyndromic hearing loss 54


Ehlers-Danlos syndrome, kyphoscoliotic type, 2


hereditary arterial and articular multiple calcification syndrome


microcephaly, epilepsy, and diabetes syndrome 1


neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies


ectodermal dysplasia and immunodeficiency 2


Defective production of NFKB1-dependent cytokines


developmental and epileptic encephalopathy, 73


autosomal dominant chondrodysplasia punctata


autosomal recessive spinocerebellar ataxia 20


spinal muscular atrophy with microcephaly and mental subnormality


congenital muscular dystrophy due to integrin alpha-7 deficiency


autoimmune lymphoproliferative syndrome type 2B


Reduced CD95-induced lymphocyte apoptosis


microcephaly 25, primary, autosomal recessive


developmental and epileptic encephalopathy, 75


midface hypoplasia, obesity, developmental delay, and neonatal hypotonia


malocclusion due to protuberant upper front teeth


ectodermal dysplasia-cutaneous syndactyly syndrome


neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures


neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures


syndromic X-linked intellectual disability 14


intellectual developmental disorder, autosomal recessive 82


immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias


developmental and epileptic encephalopathy, 80


X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome


basal ganglia calcification, idiopathic, 9, autosomal recessive


endocardial fibroelastosis and coarctation of abdominal aorta


intellectual disability, autosomal recessive 24


leukoencephalopathy, hereditary diffuse, with spheroids 2


short-rib thoracic dysplasia 14 with polydactyly


cutis laxa, autosomal recessive, type 1B


maturity-onset diabetes of the young type 10


Ehlers-Danlos syndrome, periodontal type 1


epilepsy, familial focal, with variable foci 2


mitochondrial complex 1 deficiency, nuclear type 4


Impaired visuospatial constructive cognition


microcephaly, seizures, and developmental delay


combined oxidative phosphorylation deficiency 32


developmental and epileptic encephalopathy, 78


Central thinning of the outer nuclear layer of the retina


moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome


short-rib thoracic dysplasia 16 with or without polydactyly


epidermodysplasia verruciformis, susceptibility to, 2


Persistent human papillomavirus infection


Absent in utero ossification of vertebral bodies


spastic paraplegia 79A, autosomal dominant, with ataxia


Pigment deposition in the trabecular meshwork


X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome


Decreased circulating carboxypeptidase N activity


pigmented nodular adrenocortical disease, primary, 3


Patent ductus arteriosus after birth at term


intellectual disability, autosomal dominant 43


arterial calcification, generalized, of infancy, 1


X-linked intellectual disability, van Esch type


intellectual developmental disorder, X-linked 108


Increased fecal protoporphyrin concentration


spondylometaphyseal dysplasia, Golden type


Intimal thickening in the coronary arteries


Unilateral conductive hearing impairment


brachydactyly, type E, with atrial septal defect, type 2


Abnormal circulating porphyrin concentration


autosomal recessive severe congenital neutropenia due to JAGN1 deficiency


autoinflammatory syndrome, familial, Behcet-like 1


facioscapulohumeral muscular dystrophy 3, digenic


autoinflammation, immune dysregulation, and eosinophilia


neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy


short-rib thoracic dysplasia 8 with or without polydactyly


Abnormal circulating transferrin concentration


intellectual disability, autosomal dominant 16


immunodeficiency-centromeric instability-facial anomalies syndrome 1


hypogonadotropic hypogonadism 21 with or without anosmia


sulfite oxidase deficiency due to molybdenum cofactor deficiency type C


autosomal dominant slowed nerve conduction velocity


X-linked distal spinal muscular atrophy type 3


hereditary papillary renal cell carcinoma


cancer, familial, with in vitro Radioresistance


hypogonadotropic hypogonadism 18 with or without anosmia


sick sinus syndrome 2, autosomal dominant


Increased urine 4-hydroxy-2-oxoglutarate level


congenital disorder of deglycosylation 1


autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome


corneal dystrophy, posterior polymorphous, 4


progressive encephalopathy with leukodystrophy due to DECR deficiency


Reduced liver 2,4-dienoyl-CoA reductase activity


Reduced muscle 2,4-dienoyl-CoA reductase activity


Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration


congenital stationary night blindness autosomal dominant 1


craniodiaphyseal dysplasia, autosomal dominant


myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive


developmental delay, impaired speech, and behavioral abnormalities


autosomal recessive limb-girdle muscular dystrophy type 2N


ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome


Polymorphic and polytopic ventricular extrasystoles


immunodeficiency 80 with or without congenital cardiomyopathy


autosomal recessive early-onset Parkinson disease 6


combined oxidative phosphorylation deficiency 47


Cone-shaped epiphyses of the distal phalanges of the hand


neurodevelopmental disorder with or without anomalies of the brain, eye, or heart


congenital heart defects, multiple types, 7


hypogonadotropic hypogonadism 9 with or without anosmia


Decreased circulating IgG4 concentration


MGAT2-congenital disorder of glycosylation


spinocerebellar ataxia, autosomal recessive 23


hematopoietic and lymphoid system neoplasm


patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome


Decreased circulating complement C9 concentration


early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy


Osteoarthritis of the first carpometacarpal joint


cone-rod synaptic disorder syndrome, congenital nonprogressive


Parkinson disease 11, autosomal dominant, susceptibility to


intellectual developmental disorder, autosomal recessive 78


microphthalmia, isolated, with cataract 1


Hypertension associated with pheochromocytoma


mesomelic dwarfism-cleft palate-camptodactyly syndrome


malignant hyperthermia, susceptibility to, 3


Shortening of all middle phalanges of the fingers


Shortening of all proximal phalanges of the fingers


congenital cataracts-facial dysmorphism-neuropathy syndrome


X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia


Decreased CD69 upregulation upon TCR activation


Chronic active Epstein-Barr virus infection


childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder


hypopigmentation, organomegaly, and delayed myelination and development


hypothyroidism due to TSH receptor mutations


Ehlers-Danlos syndrome, musculocontractural type 1


gaze palsy, familial horizontal, with progressive scoliosis 1


spondylometaphyseal dysplasia, 'corner fracture' type


mitochondrial complex 1 deficiency, nuclear type 10


portal vein, cavernous transformation of


night blindness, congenital stationary, type1i


microcephalic primordial dwarfism, Alazami type


intellectual disability, autosomal recessive 28


Elevated circulating guanidinoacetic acid concentration


Elevated brain guanidinoacetate level by MRS


Reduced tissue guanidinoacetate methyltransferase activity


Progressive extrapyramidal movement disorder


Abnormality of peripheral nerve conduction


Abnormality of the spinocerebellar tracts


Abnormality of the dorsal column of the spinal cord


neurodevelopmental disorder plus optic atrophy


neurodevelopmental disorder with hypotonia and seizures


epidermolysis bullosa simplex 5B, with muscular dystrophy


Charcot-Marie-Tooth disease, dominant intermediate G


neurodevelopmental disorder with ataxia, hypotonia, and microcephaly


intellectual developmental disorder with or without peripheral neuropathy


Decreased circulating beta-2-microglobulin level


combined oxidative phosphorylation defect type 21


hyperzincemia with functional zinc depletion


keratoderma-ichthyosis-deafness syndrome, autosomal recessive


epilepsy, idiopathic generalized, susceptibility to, 16


developmental and epileptic encephalopathy, 36


leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy


intellectual developmental disorder with autism and dysmorphic facies


Spinal stenosis with reduced interpedicular distance


neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities


severe neurodegenerative syndrome with lipodystrophy


breast-ovarian cancer, familial, susceptibility to, 3