Cone-shaped epiphyses fused within their metaphyses


Anterior wedging of T12

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pregnancy loss, recurrent, susceptibility to, 2


hypomagnesemia, seizures, and intellectual disability 1


Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect


mitochondrial complex 4 deficiency, nuclear type 15


Slender long bones with narrow diaphyses


migraine without aura, susceptibility to, 4


splenogonadal fusion-limb defects-micrognathia syndrome


intellectual developmental disorder, autosomal recessive 73


autosomal dominant nonsyndromic hearing loss 59


Reduced left ventricular endsystolic diameter


Punctate periventricular T2 hyperintense foci


lissencephaly 7 with cerebellar hypoplasia


mitochondrial complex 4 deficiency, nuclear type 21


amelogenesis imperfecta hypomaturation type 2A5


facial dysmorphism-immunodeficiency-livedo-short stature syndrome


hyperuricemic nephropathy, familial juvenile type 3


indifference to pain, congenital, autosomal dominant


combined oxidative phosphorylation defect type 25


leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate


Elevated CSF alpha-ketoglutarate concentration


cholestasis, progressive familial intrahepatic, 4


amyotrophic lateral sclerosis, susceptibility to, 25


celiac artery stenosis from compression by median arcuate ligament of diaphragm


Reduced circulating adenosine deaminase-2 activity


combined oxidative phosphorylation defect type 9


epilepsy, familial focal, with variable foci 4


developmental delay, language impairment, and ocular abnormalities


Increased extraneuronal autofluorescent lipopigment


Elevated CSF dihydrouracil concentration


Elevated circulating thymine concentration


Reduced hepatic dihydropyrimidinase activity


Elevated circulating uracil concentration


Elevated circulating dihydrouracil concentration


oculopharyngeal myopathy with leukoencephalopathy 1


hyperlysinemia due to defect in lysine transport into mitochondria


Bicarbonate-wasting renal tubular acidosis


hypothyroidism, congenital, nongoitrous, 2


developmental and epileptic encephalopathy, 48


Reduced erythrocyte uroporphyrinogen III cosynthase activity


Elevated circulating uroporphyrin concentration


MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3


hepatoencephalopathy due to combined oxidative phosphorylation defect type 1


pituitary hormone deficiency, combined, 1


pituitary hormone deficiency, combined, 6


autosomal recessive nonsyndromic hearing loss 53


progressive microcephaly-seizures-cortical blindness-developmental delay syndrome


hyperlipidemia due to hepatic triglyceride lipase deficiency


pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2


microcephaly 24, primary, autosomal recessive


Alagille syndrome due to a JAG1 point mutation


myasthenia, congenital, refractory to acetylcholinesterase inhibitors


tremor, hereditary essential, and idiopathic normal pressure hydrocephalus


striatonigral degeneration, infantile, mitochondrial


cerebellar ataxia, benign, with thermoanalgesia


hypotonia, infantile, with psychomotor retardation and characteristic facies 2


combined oxidative phosphorylation deficiency 41


autosomal recessive limb-girdle muscular dystrophy type 2A


mesoaxial hexadactyly and cardiac malformation


chronic mucocutaneous candidiasis due to monocyte chemotactic disorder


pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal


Platelet Disorder, Familial, with Associated Myeloid Malignancy


brachydactyly, type A2, with microcephaly


type II complement component 8 deficiency


spondyloepiphyseal dysplasia tarda with characteristic facies


cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2


Aplasia of the middle phalanges of the toes


triokinase and FMN cyclase deficiency syndrome


pulmonary edema of mountaineers, susceptibility to


developmental and epileptic encephalopathy, 14


microcephalic osteodysplastic primordial dwarfism type I


autoimmune disease, multisystem, infantile-onset, 3


combined oxidative phosphorylation deficiency 42


OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 15


Reduced mitochondrial acetyl-CoA acetyltransferase activity in cultured fibroblasts


Elevated urinary 2-methyl-3-hydroxybutyric acid level


autosomal dominant nonsyndromic hearing loss 43


autosomal recessive limb-girdle muscular dystrophy type 2B


polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2


acromesomelic dysplasia 1, Maroteaux type


piebald trait-neurologic defects syndrome


palmoplantar keratoderma-esophageal carcinoma syndrome


autosomal dominant nonsyndromic hearing loss 22


Charcot-Marie-Tooth disease axonal type 2S


pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1


cerebellar dysfunction with variable cognitive and behavioral abnormalities


mitochondrial complex 1 deficiency, nuclear type 37


glycogen storage disease due to glucose-6-phosphatase deficiency type IA


DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2


combined immunodeficiency with skin granulomas


neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies


Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome


microcephalic osteodysplastic dysplasia, Saul-Wilson type


aldosterone-producing adenoma with seizures and neurological abnormalities


Ehlers-Danlos syndrome due to tenascin-X deficiency


craniofacial dysplasia - osteopenia syndrome


amyloidosis, primary localized cutaneous, 3


sudden infant death-dysgenesis of the testes syndrome


immunodeficiency 115 with autoinflammation


Superficial dermal perivascular inflammatory infiltrate


lissencephaly type 1 due to doublecortin gene mutation


Metacarpophalangeal thumb joint contracture


Muscle hypertrophy of the lower extremities


intellectual developmental disorder, autosomal recessive 76


microcephaly 1, primary, autosomal recessive


Increased rate of premature chromosome condensation


cholestasis, progressive familial intrahepatic, 5


autosomal dominant nonsyndromic hearing loss 40


mitochondrial complex 4 deficiency, nuclear type 20


microcephaly 30, primary, autosomal recessive


severe combined immunodeficiency due to DCLRE1C deficiency


autosomal dominant nonsyndromic hearing loss 3B


ciliary dyskinesia, primary, 49, without situs inversus


familial median cleft of the upper and lower lips


microcephaly, growth deficiency, seizures, and brain malformations


NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 3


mitochondrial complex 4 deficiency, nuclear type 14


Abnormal proximal femoral metaphysis morphology


combined oxidative phosphorylation deficiency 33


Abnormality of the autonomic nervous system


myopathy, lactic acidosis, and sideroblastic anemia 2


diarrhea-vomiting due to trehalase deficiency


central centrifugal cicatricial alopecia


micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome


lethal polymalformative syndrome, Boissel type


pregnancy loss, recurrent, susceptibility to, 3


autosomal recessive complex spastic paraplegia type 9B


Increased phosphoribosylpyrophosphate synthetase level


skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome


intellectual disability, autosomal dominant 56


Colorectal Cancer, Hereditary Nonpolyposis, Type 7


craniometaphyseal dysplasia, autosomal dominant


neurodevelopmental disorder with hypotonia and characteristic brain abnormalities


maturity-onset diabetes of the young type 3


Emery-Dreifuss muscular dystrophy 1, X-linked


dyschromatosis universalis hereditaria 1


factor 9 and Factor XI, combined deficiency of


chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome


Enlarged epiphysis of the middle phalanx of the 3rd finger


Triangular shaped proximal phalanx of the 2nd finger


Triangular epiphysis of the middle phalanx of the 2nd finger


Enlarged epiphysis of the proximal phalanx of the 3rd finger


Enlarged epiphysis of the proximal phalanx of the 2nd finger


Hypersegmentation of proximal phalanx of third finger


Triangular epiphysis of the middle phalanx of the 3rd finger


Triangular shaped proximal phalanx of the 3rd finger


Triangular epiphysis of the proximal phalanx of the 3rd finger


Triangular shaped middle phalanx of the 3rd finger


Triangular epiphysis of the proximal phalanx of the 2nd finger


Hypersegmentation of proximal phalanx of second finger


Enlarged epiphysis of the middle phalanx of the 2nd finger


congenital stationary night blindness 1F


intellectual disability, autosomal recessive 25


cholestasis, progressive familial intrahepatic, 8


neurodevelopmental disorder with progressive movement abnormalities


autosomal systemic lupus erythematosus type 16


mitochondrial complex 1 deficiency, nuclear type 9


hyperphosphatasia with intellectual disability syndrome 4


growth delay due to insulin-like growth factor type 1 deficiency


intellectual disability, autosomal dominant 40


mitochondrial complex 1 deficiency, nuclear type 5


cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies


congenital disorder of glycosylation, type i/IIx


hypogonadotropic hypogonadism 10 with or without anosmia


bilateral microtia-deafness-cleft palate syndrome


congenital stationary night blindness 1D


hypertelorism-preauricular sinus-punctual pits-deafness syndrome


osteodysplasty, precocious, of Danks, Mayne, and Kozlowski


spinocerebellar ataxia, autosomal recessive 22


autosomal recessive limb-girdle muscular dystrophy type 2P


juvenile arthritis due to defect in LACC1


spondyloepimetaphyseal dysplasia, Maroteaux type


Radial deviation of thumb terminal phalanx


hypothyroidism, congenital, nongoitrous, 8


congenital myopathy 4A, autosomal dominant


combined oxidative phosphorylation defect type 30


developmental and epileptic encephalopathy, 88


intellectual developmental disorder, autosomal recessive 83


hydrocephaly-tall stature-joint laxity syndrome


Crouzon syndrome-acanthosis nigricans syndrome


congenital stationary night blindness autosomal dominant 3


neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia


alacrima, congenital, autosomal recessive


autosomal dominant limb-girdle muscular dystrophy type 1G


Decreased movement range in interphalangeal joints


epilepsy, childhood absence, susceptibility to, 1


Larsen-like osseous dysplasia-short stature syndrome


chromosome 4Q32.1-q32.2 triplication syndrome


conductive deafness-ptosis-skeletal anomalies syndrome


leishmaniasis, tegumentary, susceptibility to


autosomal dominant auditory neuropathy 1


toes, relative length of first and second


hypogonadotropic hypogonadism 17 with or without anosmia


MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 1


autosomal recessive limb-girdle muscular dystrophy type 2U


Decreased level of 1,5 anhydroglucitol in serum


Pigmentation anomalies of sun-exposed skin


Hirschsprung disease, susceptibility to, 5


skin creases, congenital symmetric circumferential, 2


Circumferential skin creases on extremities


epidermodysplasia verruciformis, susceptibility to, 1


Rajab interstitial lung disease with brain calcifications 1


Diffuse demyelination of the cerebral white matter


Arteriosclerosis of small cerebral arteries


neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures


autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures


autoinflammatory syndrome with immunodeficiency


Anti-U1 ribonucleoprotein antibody positivity


Decreased proportion of marginal zone B cells


hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency


Decreased level of histidine-rich glycoprotein


intellectual disability-severe speech delay-mild dysmorphism syndrome


intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures


neuronopathy, distal hereditary motor, autosomal recessive 4


DeSanto-Shinawi syndrome due to WAC point mutation


neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies


dwarfism, proportionate, with hip dislocation


transient erythroblastopenia of childhood


hereditary hypotrichosis with recurrent skin vesicles


hemolytic anemia due to erythrocyte adenosine deaminase overproduction


Reduced erythrocyte adenosine triphosphate concentration


congenital heart defects and ectodermal dysplasia


lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome


cholestasis-pigmentary retinopathy-cleft palate syndrome


Impaired growth-hormone response to glucagon stimulation test


autosomal dominant nonsyndromic hearing loss 24


palmoplantar keratoderma, Nagashima type


COLORECTAL CANCER, SUSCEPTIBILITY TO, 10


multiple cutaneous and mucosal venous malformations


developmental and epileptic encephalopathy, 87


autoimmune disease, susceptibility to, 1


Elevated circulating heptacarboxylporphyrin concentration


Increased fecal coproporphyrin III:coproporphyrin I ratio


developmental and epileptic encephalopathy 112


peroxisome biogenesis disorder 4A (Zellweger)


Elevated circulating tiglylglycine concentration


autosomal recessive inherited pseudoxanthoma elasticum


autosomal recessive spastic paraplegia type 76


low phospholipid associated cholelithiasis


peroxisome biogenesis disorder 8A (Zellweger)


multiple pterygium-malignant hyperthermia syndrome


scapuloperoneal spinal muscular atrophy, autosomal dominant


developmental and epileptic encephalopathy 98


X-linked dominant hypophosphatemic rickets


combined immunodeficiency with faciooculoskeletal anomalies


Ultra-low vision with retained light projection


congenital thrombotic thrombocytopenic purpura


Elevated bronchoalveolar lavage fluid eosinophil proportion


Abnormalities of placenta or umbilical cord


autosomal recessive nonsyndromic hearing loss 49


growth delay due to insulin-like growth factor I resistance


spondyloepimetaphyseal dysplasia, Shohat type


Mayer-Rokitansky-Küster-Hauser syndrome type 2


neurodevelopmental disorder with hypotonia and gross motor and speech delay


X-linked dyserythropoetic anemia with abnormal platelets and neutropenia


aniridia, microcornea, and spontaneously Reabsorbed cataract


ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features


maternally-inherited diabetes and deafness


mitochondrial complex 1 deficiency, nuclear type 19


ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome


developmental and epileptic encephalopathy, 47


complex cortical dysplasia with other brain malformations 6


intellectual disability, autosomal dominant 45


microcephaly 29, primary, autosomal recessive


intellectual disability, autosomal recessive 44


lethal congenital contracture syndrome 8


transient familial neonatal hyperbilirubinemia


Partial fusion of proximal row of carpal bones


combined immunodeficiency due to GINS1 deficiency


Early ossification of capital femoral epiphyses


hyper-IgE recurrent infection syndrome 3, autosomal recessive


methicillin-resistant staphylococcus aureus infectious disease


combined immunodeficiency due to ZAP70 deficiency


intellectual developmental disorder, autosomal dominant 64


hypoalphalipoproteinemia, primary, 2, intermediate


microcephaly 22, primary, autosomal recessive


intrauterine growth retardation with increased mitomycin c sensitivity


epidermodysplasia verruciformis, susceptibility to, 5


mitochondrial complex 1 deficiency, nuclear type 35


glomerulopathy with fibronectin deposits 2


intellectual developmental disorder with short stature and variable skeletal anomalies


syndromic X-linked intellectual disability Raymond type


myopathy, centronuclear, 6, with fiber-type disproportion


neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies


familial hemophagocytic lymphohistiocytosis 3


agammaglobulinemia 5, autosomal dominant


ELECTROENCEPHALOGRAPHIC PATTERN, BETA FREQUENCY, QUANTITATIVE TRAIT LOCUS


autoimmune disease, multisystem, infantile-onset, 2


Linear IgG deposits along the epidermal basement membrane zone


congenitally short costocoracoid ligament


Abnormality of the shoulder girdle musculature


brachydactyly-elbow wrist dysplasia syndrome


hereditary sensory and autonomic neuropathy type 5


Tessadori-van Haaften neurodevelopmental syndrome 2


DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8


Reduced tissue tripeptidyl peptidase 1 activity


Yellow subcutaneous tissue covered by thin, scaly skin


autosomal recessive nonsyndromic hearing loss 13


lethal congenital contracture syndrome 2


neurodegeneration with brain iron accumulation 9


medium chain acyl-CoA dehydrogenase deficiency


Reduced tissue medium-chain acyl-CoA dehydrogenase activity


Elevated urinary 7-hydroxyoctanoic acid level


free sialic acid storage disease, infantile form


arthrogryposis multiplex congenita 3, myogenic type


Reduced orotidine 5-prime phosphate decarboxylase level


neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies


autosomal recessive nonsyndromic hearing loss 36


syndromic X-linked intellectual disability Snyder type


Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency


Ehlers-Danlos syndrome, spondylodysplastic type, 2


congenital lactic acidosis, Saguenay-Lac-Saint-Jean type


Rubinstein-Taybi syndrome due to 16p13.3 microdeletion


epidermolysis bullosa simplex due to plakophilin deficiency


autosomal dominant nonsyndromic hearing loss 21


Abnormality of prenatal development or birth


autosomal recessive proximal renal tubular acidosis


Impaired renal tubular reabsorption of bicarbonate


neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies


Charcot-Marie-Tooth disease axonal type 2X


intellectual disability, autosomal recessive 4


Reduced C27 3beta-HSD activity in cultured fibroblasts


progressive demyelinating neuropathy with bilateral striatal necrosis


congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome


generalized basaloid follicular hamartoma syndrome


Increased urinary N-acetylglucosamine-rich oligosaccharide level


autosomal dominant nonsyndromic hearing loss 69


neurodevelopmental disorder with hypotonia, microcephaly, and seizures


multiple congenital anomalies-hypotonia-seizures syndrome 1


cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1


disabling pansclerotic morphea of childhood


vertebral hypoplasia with lumbar kyphosis


catecholaminergic polymorphic ventricular tachycardia 4


ectopia lentis 1, isolated, autosomal dominant


Tapering pointed ends of distal finger phalanges


spinal muscular atrophy with congenital bone fractures 2


Skin dimple over apex of long bone angulation


oocyte/zygote/embryo maturation arrest 17


Proximal humeral metaphyseal irregularity


intellectual developmental disorder, X-linked 114


nystagmus, congenital, autosomal recessive


epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive


autosomal recessive nonsyndromic hearing loss 55


intellectual developmental disorder with short stature and behavioral abnormalities


isolated anhidrosis with normal sweat glands


FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 3


DOPAMINE BETA-HYDROXYLASE, PLASMA, THERMOLABILITY OF


dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema


Increased red cell hemolysis by shear stress


diffuse nonepidermolytic palmoplantar keratoderma


neuropathy, congenital, with arthrogryposis multiplex


Absent or minimally ossified vertebral bodies


Patchy variation in bone mineral density


autosomal recessive nonsyndromic hearing loss 47


Reduced muscle phosphorylase kinase activity


Glycogen accumulation in muscle fiber lysosomes


spinal muscular atrophy with congenital bone fractures 1


ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3


breast-ovarian cancer, familial, susceptibility to, 5


autosomal recessive nonsyndromic hearing loss 5


autoinflammatory disease, multisystem, with immune dysregulation, X-linked


severe X-linked intellectual disability, Gustavson type


congenital osteogenesis imperfecta-microcephaly-cataracts syndrome


microcytic anemia with liver iron overload


methylmalonic acidemia with homocystinuria, type cblX


leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome


intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities


autosomal recessive limb-girdle muscular dystrophy type 2E


Ultra-low vision with retained motion projection


Hirschsprung disease, susceptibility to, 3


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5


complex cortical dysplasia with other brain malformations 4


developmental delay with dysmorphic facies and dental anomalies


intellectual disability, autosomal recessive 3


autosomal dominant deafness - onychodystrophy syndrome


muscular dystrophy, limb-girdle, autosomal recessive 27


autosomal recessive nonsyndromic hearing loss 45


mitochondrial complex IV deficiency, nuclear type 1


infundibulopelvic stenosis-multicystic kidney syndrome


amegakaryocytic thrombocytopenia, congenital, 2


Silverman-Handmaker type dyssegmental dysplasia


autosomal recessive spinocerebellar ataxia 17


lethal arthrogryposis-anterior horn cell disease syndrome


ataxia - deafness - intellectual disability syndrome


glycogen storage disease due to glycogen branching enzyme deficiency


multicentric carpo-tarsal osteolysis with or without nephropathy


uveal coloboma-cleft lip and palate-intellectual disability


immunodeficiency with defective T-cell response to interleukin 1


attention deficit-hyperactivity disorder 8


Rubinstein-Taybi syndrome due to CREBBP mutations


Plantar crease between first and second toes


epiphyseal dysplasia of femoral head, myopia, and deafness


Abnormality of the epiphysis of the femoral head


Increased level of N-acetylneuraminic acid in urine


Increased effector memory CD8+ T cell proportion


Decreased central memory CD8+ T cell proportion


Positive Mycobacterium avium sputum culture


pseudohypoaldosteronism, type IB3, autosomal recessive


Multicentric ossification of proximal humeral epiphyses


Multicentric ossification of proximal femoral epiphyses


Abnormal circulating cysteine concentration


Abnormal circulating glycine concentration


cholestasis, intrahepatic, of pregnancy, 1


Reduced circulating cortisol-binding globulin concentration


thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies


autosomal recessive nonsyndromic hearing loss 101


intellectual disability, autosomal dominant 1


Tessadori-van Haaften neurodevelopmental syndrome 1


short ulna-dysmorphism-hypotonia-intellectual disability syndrome


autosomal dominant nonsyndromic hearing loss 28


Progressive pulmonary function impairment


DK1-congenital disorder of glycosylation


Partial duplication of the phalanx of hand


hemolytic anemia due to adenylate kinase deficiency


Reduced erythrocyte adenylate kinase activity


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


developmental and epileptic encephalopathy, 50


cerebral sclerosis similar to Pelizaeus-Merzbacher disease


PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome


intellectual disability, X-linked 99, syndromic, female-restricted


microcephaly 23, primary, autosomal recessive


intellectual disability, autosomal dominant 8


Anti-muscle-specific tyrosine kinase antibody


myopathy, myosin storage, autosomal recessive


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1


visual impairment and progressive phthisis bulbi


cardiomyopathy, familial hypertrophic, 30, atrial


Reduced circulating NT-proANP concentration


lethal congenital contracture syndrome 7


developmental and epileptic encephalopathy, 8


peroxisome biogenesis disorder 1A (Zellweger)


cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2


congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency


T-cell immunodeficiency, congenital alopecia, and nail dystrophy


familial congenital palsy of trochlear nerve


intellectual disability, autosomal dominant 46


diaphyseal medullary stenosis-bone malignancy syndrome


Stenosis of the medullary cavity of the long bones


spondylometaphyseal dysplasia, pagnamenta type


gnb5-related intellectual disability-cardiac arrhythmia syndrome


mitochondrial complex 1 deficiency, nuclear type 18


Formation of multiple pronuclei during fertilization


MOGS-congenital disorder of glycosylation


Reduced tissue mannosyl-oligosaccharide glucosidase activity


hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2


lipodystrophy, partial, acquired, susceptibility to


LIPE-related familial partial lipodystrophy


congenital plasminogen activator inhibitor type 1 deficiency


severe combined immunodeficiency due to LCK deficiency


Symmetric spinal nerve root neurofibromas


T-B+ severe combined immunodeficiency due to JAK3 deficiency


Absent peripheral lymph nodes in presence of infection


Elevated urinary isovalerylglycine level


Increased circulating isovaleric acid concentration


Reduced isovaleryl CoA dehydrogenase activity in cultured fibroblasts


intellectual disability, autosomal recessive 63


Elevated circulating methylmalonylcarnitine concentration


distichiasis with congenital anomalies of the heart and peripheral vasculature


congenital myopathy 2c, severe infantile, autosomal dominant


Abnormality of skeletal muscle fiber size


neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum


neurodevelopmental disorder with language impairment and behavioral abnormalities


congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome


external auditory canal atresia-vertical talus-hypertelorism syndrome


Increased level of 3-hydroxy-3-methylglutaric acid in urine


Reduced HMG-CoA lyase activity in cultured fibroblasts


Elevated urinary 3-methylcrotonylglycine level


microcephaly-thin corpus callosum-intellectual disability syndrome


ichthyosiform erythroderma, corneal involvement, and hearing loss


agammaglobulinemia 7, autosomal recessive


multiple benign circumferential skin creases on limbs 1


neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity


neurodevelopmental disorder with cerebellar atrophy and with or without seizures


pulmonary alveolar proteinosis with hypogammaglobulinemia


polymicrogyria, bilateral perisylvian, X-linked


intellectual disability, anterior maxillary protrusion, and strabismus


thumb deformity-alopecia-pigmentation anomaly syndrome


Increased groin pigmentation with raindrop depigmentation


mitochondrial complex V (ATP synthase) deficiency nuclear type 4B


selective pituitary resistance to thyroid hormone


familial steroid-resistant nephrotic syndrome with sensorineural deafness


alopecia-intellectual disability syndrome 2


neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia


combined oxidative phosphorylation deficiency 22


congenital reticular ichthyosiform erythroderma


craniometadiaphyseal dysplasia, wormian bone type


progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome


amyotrophic lateral sclerosis 27, juvenile


vitiligo-associated multiple autoimmune disease susceptibility 6


Hirschsprung disease, susceptibility to, 2


macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome


self-limited epilepsy with centrotemporal spikes


EEG with centrotemporal focal spike waves


focal segmental glomerulosclerosis 4, susceptibility to


pili torti-developmental delay-neurological abnormalities syndrome


microcephaly 13, primary, autosomal recessive


megacystis-microcolon-intestinal hypoperistalsis syndrome 3


intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism


preauricular tag, isolated, autosomal dominant, 1


familial hemophagocytic lymphohistiocytosis 5


Low-frequency sensorineural hearing impairment


retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies


autosomal dominant progressive nephropathy with hypertension


congenital dyserythropoietic anemia type 4


autosomal recessive congenital ichthyosis 4A


neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked


neuropathy, hereditary sensory and autonomic, type 2B


herpes simplex encephalitis, susceptibility to, 3


neutropenia, severe congenital, 10, autosomal recessive


Klippel-Feil syndrome 2, autosomal recessive


congenital heart defects, multiple types, 6


autosomal dominant Kenny-Caffey syndrome


Abnormality of the medullary cavity of the long bones


autosomal recessive nonsyndromic hearing loss 37


microcephaly, growth restriction, and increased sister chromatid exchange 2


Increased susceptibility to spontaneous sister chromatid exchange


spinocerebellar ataxia, autosomal recessive 29


Reduced hepatic ornithine transcarbamylase activity


agenesis of corpus callosum, cardiac, ocular, and genital syndrome


polycystic kidney disease 9, susceptibility to


immunodeficiency-centromeric instability-facial anomalies syndrome 3


autosomal recessive nonsyndromic hearing loss 98


intellectual disability, autosomal dominant 39


parotid salivary glands, polycystic dysgenetic disease of


epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive


arrhythmogenic right ventricular dysplasia 12


autosomal recessive spinocerebellar ataxia 12


developmental and epileptic encephalopathy 99


spondylocostal dysostosis 1, autosomal recessive


Ehlers-Danlos syndrome, cardiac valvular type


angiokeratoma corporis diffusum with arteriovenous fistulas


mitochondrial complex 1 deficiency, nuclear type 21


glomerulopathy with fibronectin deposits 1


Aplasia cutis congenita of midline scalp vertex


myopathy, myofibrillar, 9, with early respiratory failure


arrhythmogenic right ventricular dysplasia 10


Thumb Agenesis, Short Stature, And Immunodeficiency


bone marrow failure and diabetes mellitus syndrome


developmental and epileptic encephalopathy, 58


Bietti crystalline corneoretinal dystrophy


lethal omphalocele-cleft palate syndrome


Decreased circulating alpha-fetoprotein concentration


mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis


combined immunodeficiency due to DOCK8 deficiency


intellectual developmental disorder, autosomal recessive 67


Partial duplication of the distal phalanx of the 3rd finger


Partial duplication of the distal phalanx of the 2nd finger


tumoral calcinosis, hyperphosphatemic, familial, 2


DEAFNESS, AUTOSOMAL RECESSIVE 26, MODIFIER OF


intellectual developmental disorder with seizures and language delay


Increased theta frequency activity in EEG


multicentric Castleman disease, susceptibility to


Reduced cystathionine beta-synthase activity in cultured fibroblasts


intellectual disability, autosomal dominant 10


Reduced hepatic glycogen phosphorylase activity


mitochondrial complex III deficiency nuclear type 5


Elevated circulating sebacic acid concentration


Elevated circulating fumarate concentration


Elevated circulating suberic acid concentration


macrocephaly, dysmorphic facies, and psychomotor retardation


intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency


retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome


aromatic L-amino acid decarboxylase deficiency


Reduced circulating aromatic L-amino acid decarboxylase activity


X-linked acrogigantism due to Xq26 microduplication


3-methylcrotonyl-CoA carboxylase 2 deficiency


combined oxidative phosphorylation deficiency 36


intellectual disability, autosomal dominant 51


Febrile seizure outside the age of 3 months to 6 years


Use of another person's body to communicate


cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis


anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane


Decreased circulating apolipoprotein C-II concentration


autosomal dominant nonsyndromic hearing loss 13


hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities


tibia, hypoplasia or aplasia of, with polydactyly


autosomal dominant nonsyndromic hearing loss 27


spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome


intellectual disability-hypotonic facies syndrome, X-linked, 1


neuronopathy, distal hereditary motor, autosomal recessive 7


mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5


facial paresis, hereditary congenital, 1


autosomal dominant nonsyndromic hearing loss 11


diencephalic-mesencephalic junction dysplasia syndrome 2


osteosclerosis-ichthyosis-premature ovarian failure syndrome


Elevated urinary phenylpyruvic acid level


Elevated urinary gamma-glutamylphenylalanine level


Charcot-Marie-Tooth disease recessive intermediate C


encephalopathy, progressive, with amyotrophy and optic atrophy


Diminished tissue alpha-L-iduronidase activity


bone fragility with contractures, arterial rupture, and deafness


X-linked lissencephaly with abnormal genitalia


progressive bifocal chorioretinal atrophy


congenital myopathy 21 with early respiratory failure


oocyte/zygote/embryo maturation arrest 18


seizures, early-onset, with neurodegeneration and brain calcifications


congenital disorder of glycosylation, type IIaa


autosomal recessive nonsyndromic hearing loss 7


neuropathy, hereditary sensory and autonomic, type 1A


autoimmune disease with susceptibility to mycobacterium tuberculosis


Positive bloodstream tuberculosis-induced T-cell-based interferon-gamma release assay


ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features


microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies


autosomal recessive nonsyndromic hearing loss 27


lethal congenital contracture syndrome 4


muscular dystrophy, limb-girdle, autosomal recessive 26


brachyphalangy, polydactyly, and tibial aplasia/hypoplasia


cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay


myopathy with storage of glycoproteins and Glycosaminoglycans


Tetralogy of Fallot with pulmonary atresia


MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO


microcephaly 16, primary, autosomal recessive


oocyte/zygote/embryo maturation arrest 19


combined oxidative phosphorylation defect type 8


primary familial polycythemia due to EPO receptor mutation


neurodevelopmental disorder with hypotonia and speech delay, with or without seizures


cavernous hemangiomas of face-supraumbilical midline raphe syndrome


diabetes mellitus, transient neonatal, 3


autosomal recessive nonsyndromic hearing loss 4


neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities


spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy


intellectual developmental disorder with impaired language and dysmorphic facies


immunodeficiency-centromeric instability-facial anomalies syndrome 2


epilepsy, idiopathic generalized, susceptibility to, 10


complex cortical dysplasia with other brain malformations 3


muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8


URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1


autosomal dominant nonsyndromic hearing loss 50


Hirschsprung disease, susceptibility to, 4


ichthyosis, congenital, autosomal recessive 13


Expanded metacarpals with widened medullary cavities


Expanded phalanges with widened medullary cavities


Expanded metatarsals with widened medullary cavities


leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome


autosomal dominant nonsyndromic hearing loss 10


telangiectasia, hereditary hemorrhagic, type 1


Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin


autosomal dominant nonsyndromic hearing loss 30


intellectual disability, autosomal recessive 65


TMEM165-congenital disorder of glycosylation


Post-angioplasty coronary artery restenosis


Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development


seborrhea-like dermatitis with psoriasiform elements


persistent polyclonal B-cell lymphocytosis


bundle branch block, familial isolated complete right


spondylocostal dysostosis 2, autosomal recessive


neurodevelopmental disorder with microcephaly and structural brain anomalies


Increased density of long bone diaphyses


autosomal recessive nonsyndromic hearing loss 15


autism spectrum disorder due to AUTS2 deficiency


pseudohypoaldosteronism, type IB2, autosomal recessive


surfactant metabolism dysfunction, pulmonary, 4


ophthalmoplegia-intellectual disability-lingua scrotalis syndrome


epilepsy, juvenile myoclonic, susceptibility to, 9


thyrotoxic periodic paralysis, susceptibility to, 1


autosomal recessive palmoplantar keratoderma and congenital alopecia


autosomal dominant popliteal pterygium syndrome


Pyramidal skinfold extending from the base to the top of the nails


autosomal recessive faciodigitogenital syndrome


pituitary adenoma, growth hormone-secreting, 2


neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia


Patchy atrophy of the retinal pigment epithelium


autosomal recessive limb-girdle muscular dystrophy type 2L


X-linked intellectual disability-short stature-overweight syndrome


developmental and epileptic encephalopathy 105 with hypopituitarism


spastic paraplegia, ataxia, and intellectual disability


combined immunodeficiency due to CD3gamma deficiency


familial hemophagocytic lymphohistiocytosis type 1


myasthenic syndrome, congenital, 25, presynaptic


short stature due to growth hormone qualitative anomaly


Decreased circulating IgG3 concentration


mitochondrial DNA depletion syndrome, myopathic form


complex cortical dysplasia with other brain malformations 7


intellectual disability, autosomal dominant 11


pulmonary fibrosis and/or bone marrow failure, telomere-related, 6


deafness, congenital heart defects, and posterior embryotoxon


cerebellar, ocular, craniofacial, and genital syndrome


lipodystrophy, congenital generalized, type 5


progressive familial intrahepatic cholestasis type 3


autosomal recessive nonsyndromic hearing loss 26


DPAGT1-congenital disorder of glycosylation


Decreased circulating biotinidase concentration


nasal hyperpigmentation, familial transverse


developmental and epileptic encephalopathy, 39


familial reactive perforating collagenosis


intellectual disability, autosomal dominant 55, with seizures


Abnormal response to ACTH stimulation test


PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY


RADIAL LOOP, PLAIN, ON RIGHT INDEX FINGER


Delayed distal femoral epiphyseal ossification


ACTH-independent macronodular adrenal hyperplasia 2


skeletal dysplasia-intellectual disability syndrome


muscular dystrophy, pseudohypertrophic, with Internalized capillaries


mitochondrial complex 1 deficiency, nuclear type 22


IL21-related infantile inflammatory bowel disease


FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2


hemolytic anemia due to glucophosphate isomerase deficiency


Decreased glucosephosphate isomerase level


erythrokeratodermia variabilis et progressiva 6


congenital heart defects and skeletal malformations syndrome


deaf blind hypopigmentation syndrome, Yemenite type


short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay


Limited mobility of proximal interphalangeal joint


spastic paraplegia 93, autosomal recessive


intellectual developmental disorder with ocular anomalies and distinctive facial features


heterotaxy, visceral, 10, autosomal, with male infertility


megaconial type congenital muscular dystrophy


recessive dystrophic epidermolysis bullosa


succinic semialdehyde dehydrogenase deficiency


Elevated circulating 4-hydroxybutyric acid concentration


Decreased tissue succinic semialdehyde dehydrogenase activity


Elevated CSF gamma-aminobutyric acid concentration


Elevated CSF 4-hydroxybutyric acid concentration


Elevated urinary 3,4-Dihydroxybutyric acid level


Increased level of gamma-aminobutyric acid in urine


COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4


proteasome-associated autoinflammatory syndrome 5


fatal infantile hypertonic myofibrillar myopathy


ataxia with myoclonic epilepsy and presenile dementia


immunodeficiency-centromeric instability-facial anomalies syndrome 4


multiple congenital anomalies-neurodevelopmental syndrome, X-linked


hypogonadotropic hypogonadism 1 with or without anosmia


hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes


Tongue-like lumbar vertebral deformities


developmental delay, dysmorphic facies, and brain anomalies


chorea, childhood-onset, with psychomotor retardation


neurodevelopmental, jaw, eye, and digital syndrome


Anomalous branches of internal carotid artery


ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies


intellectual developmental disorder, X-linked 110


spondyloepiphyseal dysplasia, Cantu type


intellectual disability, autosomal dominant 29


neuromuscular disease and ocular or auditory anomalies with or without seizures


spinocerebellar ataxia, autosomal recessive 30


spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness


Enlarged epiphyses of the phalanges of the hand


autosomal dominant distal renal tubular acidosis


periodic fever-infantile enterocolitis-autoinflammatory syndrome


autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD


BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9


hereditary sensory and autonomic neuropathy type 6


autosomal dominant nonsyndromic hearing loss 65


familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome


autosomal dominant nocturnal frontal lobe epilepsy 4


Impaired renal tubular reabsorption of magnesium


split-hand/foot malformation with long bone deficiency 1


pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures


congenital muscular dystrophy with cataracts and intellectual disability


neuronopathy, distal hereditary motor, type 2D


Abnormal circulating polysaccharide concentration


epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features


autosomal recessive nonsyndromic hearing loss 68


renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss


cryptosporidiosis-chronic cholangitis-liver disease syndrome


Chronic hepatitis due to cryptosporidium infection


obesity, hyperphagia, and developmental delay


congenital heart defects, multiple types, 9


Single ventricle of indeterminate morphology


Compound muscle action potential amplitude facilitation


neurodevelopmental disorder with infantile epileptic spasms


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7


brain small vessel disease 1 with or without ocular anomalies


Ullrich congenital muscular dystrophy 1A


optic atrophy 10 with or without ataxia, intellectual disability, and seizures


fibrosis of extraocular muscles, congenital, with synergistic divergence


nystagmus 2, congenital, autosomal dominant


developmental delay with short stature, dysmorphic facial features, and sparse hair 1


intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities


cervical hypertrichosis with underlying kyphoscoliosis


peroxisome biogenesis disorder 6A (Zellweger)


arrhythmogenic cardiomyopathy with variable ectodermal abnormalities


autosomal recessive limb-girdle muscular dystrophy type 2C


inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive


Diffuse reticular or finely nodular infiltrations


developmental and epileptic encephalopathy, 86


micromelic bone dysplasia with cloverleaf skull


hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome


intellectual disability, autosomal dominant 30


developmental and epileptic encephalopathy, 53


hypogonadotropic hypogonadism 14 with or without anosmia


mitochondrial complex 1 deficiency, nuclear type 33


mullerian duct anomalies-limb anomalies syndrome


Elevated urinary phosphohydroxylysine level


ectodermal dysplasia 15, hypohidrotic/hair type


MPI-congenital disorder of glycosylation


Reduced tissue phosphomannose isomerase activity


autosomal dominant nocturnal frontal lobe epilepsy 5


complex cortical dysplasia with other brain malformations 5


Skin-Hair-Eye Pigmentation, Variation In, 5


mannose 6-phosphate receptor recognition defect, Lebanese type


hypophosphatemic rickets, autosomal recessive, 2


Ehlers-Danlos syndrome, periodontal type 2


mitochondrial complex 1 deficiency, nuclear type 26


Charcot-Marie-Tooth disease dominant intermediate E


intellectual disability, autosomal recessive 29


hypertrophic osteoarthropathy, primary, autosomal recessive, 2


Reduced holocarboxylase synthetase activity in cultured fibroblasts


acromesomelic dysplasia 2C, Hunter-Thompson type


Exaggerated rugosity of the labia majora


agammaglobulinemia 8b, autosomal recessive


periventricular heterotopia with microcephaly, autosomal recessive


microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum


autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency


glutamate pyruvate transaminase 2 deficiency


Contracture of the proximal interphalangeal joint of the 3rd toe


isolated growth hormone deficiency type IB


Ehlers-Danlos syndrome, arthrochalasia type, 2


X-linked hereditary sensory and autonomic neuropathy with hearing loss


ceroid lipofuscinosis, neuronal, 6B (Kufs type)


radiation sensitivity of natural killer activity


Ullrich congenital muscular dystrophy 1B


autosomal recessive severe congenital neutropenia due to CSF3R deficiency


spondyloepiphyseal dysplasia tarda, autosomal recessive


autosomal dominant nonsyndromic hearing loss 47


hearing loss, autosomal dominant 34, with or without inflammation


ALG3-congenital disorder of glycosylation


agammaglobulinemia 2, autosomal recessive


hearing loss, sensorineural, autosomal-mitochondrial type


neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia


intellectual disability, autosomal recessive 54


mitochondrial complex III deficiency nuclear type 4


contractures, pterygia, and variable skeletal fusions syndrome 1B


developmental and epileptic encephalopathy 100


Reduced tissue galactocerebrosidase activity


midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis


generalized epilepsy with febrile seizures plus, type 10


lethal congenital contracture syndrome 1


Tessadori-Van Haaften neurodevelopmental syndrome 3


Reduced uroporphyrinogen decarboxylase activity


hereditary North American Indian childhood cirrhosis


progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6


mitochondrial complex III deficiency nuclear type 7


epidermolysis bullosa simplex with nail dystrophy


ASPARAGUS, SPECIFIC SMELL HYPERSENSITIVITY


mitochondrial complex I deficiency, nuclear type 39


intellectual disability, autosomal dominant 54


pigmented nodular adrenocortical disease, primary, 4


intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly


severe combined immunodeficiency due to CORO1A deficiency


acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins


retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome


severe combined immunodeficiency due to CARMIL2 deficiency


Klippel-Feil syndrome 3, autosomal dominant


autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)


arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome


PMP22-RAI1 contiguous gene duplication syndrome


developmental and epileptic encephalopathy 97


autosomal recessive nonsyndromic hearing loss 22


congenital enteropathy due to enteropeptidase deficiency


Elevated urinary 2,8-dihydroxyadenine level


autosomal recessive nonsyndromic hearing loss 88


herpes simplex encephalitis, susceptibility to, 1


developmental delay with or without intellectual impairment or behavioral abnormalities


cerebellar atrophy, visual impairment, and psychomotor retardation;


Abnormal circulating gonadotropin concentration


autosomal recessive nonsyndromic hearing loss 6


autosomal dominant nonsyndromic hearing loss 6


syndromic X-linked intellectual disability Shashi type


autosomal recessive nonsyndromic hearing loss 51


spastic paraplegia 70, autosomal recessive


Charcot-Marie-Tooth disease dominant intermediate B


Spondyloenchondrodysplasia with immune dysregulation


multiple congenital anomalies-hypotonia-seizures syndrome 3


cleft palate-stapes fixation-oligodontia syndrome


neurodevelopmental disorder with microcephaly and movement abnormalities


frontotemporal dementia and/or amyotrophic lateral sclerosis 7


combined oxidative phosphorylation deficiency 58


Reduced tissue palmitoyl-protein thioesterase activity


Pierre Robin sequence with pectus excavatum and rib and scapular anomalies


megalencephalic leukoencephalopathy with subcortical cysts 2A


skeletal dysplasia, mild, with joint laxity and advanced bone age


epilepsy, idiopathic generalized, susceptibility to, 14


CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 3


Deposits immunoreactive to beta-amyloid protein


intellectual developmental disorder, autosomal dominant 73


alopecia-intellectual disability syndrome 3


Charcot-Marie-Tooth Disease, axonal, type 2GG


Elevated circulating insulin:C-peptide ratio


neuronopathy, distal hereditary motor, type 5A


benign recurrent intrahepatic cholestasis type 1


pelvic lipomatosis with crossed renal ectopia


neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities


Decreased circulating thrombopoietin concentration


congenital disorder of glycosylation, type 1DD


Charcot-Marie-Tooth disease, axonal, Type 2HH


developmental and epileptic encephalopathy, 35


porokeratosis 6, disseminated superficial actinic type


mitochondrial trifunctional protein deficiency 1


Diminished long-chain-enoyl-CoA hydratase activity in cultured fibroblasts


Diminished acetyl-CoA C-acyltransferase activity in cultured fibroblasts


intellectual disability, X-linked syndromic, Turner type


progressive deafness with stapes fixation


microcephaly 11, primary, autosomal recessive


Charcot-Marie-Tooth disease dominant intermediate C


Usmani-Riazuddin syndrome, autosomal recessive


microphthalmia, isolated, with coloboma 6


chondrodysplasia with joint dislocations, gPAPP type


ichthyosis, congenital, autosomal recessive 14


skeletal dysplasia with delayed epiphyseal and carpal bone ossification


amelogenesis imperfecta, hypomaturation type, IIa6


peripheral neuropathy, autosomal recessive, with or without impaired intellectual development


bronchiectasis with or without elevated sweat chloride 3


3-methylcrotonyl-CoA carboxylase 1 deficiency


Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts


intellectual disability, autosomal dominant 53


microcephaly 15, primary, autosomal recessive


congenital secretory chloride diarrhea 1


Elevated serum bicarbonate concentration


contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A


multicentric osteolysis, nodulosis, and arthropathy


combined oxidative phosphorylation deficiency 59


multiple mitochondrial dysfunctions syndrome 6


cerebral palsy, ataxic, autosomal recessive


neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements


digitotalar dysmorphism; ulnar drift, hereditary


Tessadori-Van Haaften neurodevelopmental syndrome 4


vas deferens, congenital bilateral aplasia of, X-linked


Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive


autoimmune lymphoproliferative syndrome type 2A


Intermittent generalized erythematous papular rash


syndromic X-linked intellectual disability Najm type


ciliary dyskinesia, primary, 36, X-linked


microcephaly 21, primary, autosomal recessive


developmental and epileptic encephalopathy, 76


congenital generalized lipodystrophy type 2


malignant hyperthermia, susceptibility to, 5


encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency


mitochondrial complex III deficiency nuclear type 3


agammaglobulinemia 3, autosomal recessive


syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome


Diamond-Blackfan anemia 14 with mandibulofacial dysostosis


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2


developmental delay with or without dysmorphic facies and autism


arrhythmogenic right ventricular dysplasia 13


short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans


brachydactyly-preaxial hallux varus syndrome


non-acquired combined pituitary hormone deficiency with spine abnormalities


linear skin defects with multiple congenital anomalies 3


hypothyroidism, congenital, nongoitrous, 5


intellectual disability, autosomal recessive 61


immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection


autosomal recessive nonsyndromic hearing loss 32


microphthalmia, isolated, with coloboma 7


neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities


pyruvate dehydrogenase E3-binding protein deficiency


Charcot-Marie-Tooth disease axonal type 2U


neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive


familial juvenile hyperuricemic nephropathy type 1


intellectual disability, autosomal recessive 45


developmental and epileptic encephalopathy, 69


Ehlers-Danlos syndrome, hypermobility type


spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant


Charcot-Marie-Tooth disease, axonal, IIa 2II


neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects


polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis


fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies


Aplasia/Hypoplasia of the pyramidal tract


pseudohypoaldosteronism, type IB1, autosomal recessive


mitochondrial complex 1 deficiency, nuclear type 36


leukoencephalopathy with vanishing white matter 1


autosomal dominant nonsyndromic hearing loss 1


autosomal dominant cerebellar ataxia, deafness and narcolepsy


autosomal recessive nonsyndromic hearing loss 44


neurodevelopmental disorder with hearing loss and spasticity


multiple mitochondrial dysfunctions syndrome 5


autosomal recessive nonsyndromic hearing loss 9


metaphyseal chondrodysplasia, Jansen type


immunodeficiency 123 with HPV-related verrucosis


mitochondrial complex 1 deficiency, nuclear type 25


autosomal recessive nonsyndromic hearing loss 79


familial cold autoinflammatory syndrome 3


mitochondrial complex 1 deficiency, nuclear type 32


autosomal recessive nonsyndromic hearing loss 48


Increased circulating Interferon-alpha concentration


hypercholesterolemia, autosomal dominant, type B


peroxisome biogenesis disorder 3A (Zellweger)


autoinflammation with arthritis and dyskeratosis


hamartoma, Precalcaneal congenital fibrolipomatous


neurodevelopmental disorder with poor growth and behavioral abnormalities


Elevated erythrocyte inosine triphosphate concentration


Reduced erythrocyte inosine triphosphatase activity


mitochondrial DNA depletion syndrome 3 (hepatocerebral type)


aniridia-cerebellar ataxia-intellectual disability syndrome


Charcot-Marie-Tooth disease axonal type 2K


spondylometaphyseal dysplasia, Sedaghatian type


spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits


progeroid and marfanoid aspect-lipodystrophy syndrome


hypotonia, infantile, with psychomotor retardation and characteristic facies 3


Juvenile posterior subcapsular lenticular opacities


amyotrophic lateral sclerosis-parkinsonism-dementia complex


cone dystrophy with supernormal rod response


hydrocephalus, nonsyndromic, autosomal recessive 1


hereditary sensory and autonomic neuropathy type 7


Elevated urine glucose tetrasaccharide level


Reduced muscle alpha-1,4-glucosidase activity


autosomal dominant striatal neurodegeneration type 1


Symmetric T2-signal increase with T1-signal decrease in the putamen


mandibulofacial dysostosis with ptosis, autosomal dominant


inflammatory skin and bowel disease, neonatal, 2


migraine with or without aura, susceptibility to, 12


severe combined immunodeficiency due to CARD11 deficiency


focal segmental glomerulosclerosis and neurodevelopmental syndrome


EEG with parietal epileptiform discharges


short-rib thoracic dysplasia 17 with or without polydactyly


structural brain anomalies with impaired intellectual development and craniosynostosis


Decreased acid sphingomyelinase activity


intellectual disability, autosomal dominant 57


congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome


neutropenia, severe congenital, 2, autosomal dominant


cardiomyopathy, familial hypertrophic 27


ALG11-congenital disorder of glycosylation


cardiomyopathy, familial hypertrophic, 28


ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia


CIDEC-related familial partial lipodystrophy


aortic aneurysm, familial thoracic 11, susceptibility to


encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome


classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency


Elevated circulating 21-deoxycortisol concentration


maturity-onset diabetes of the young type 9


microcephaly 4, primary, autosomal recessive


epilepsy, idiopathic generalized, susceptibility to, 11


epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase


immunodeficiency 74, COVID-19-related, X-linked


congenital disorder of glycosylation, type IIr


Elevated urine 3-hydroxypropionic acid level


Elevated urine 2-methylcitric acid level


chromosome 11p13 deletion syndrome, distal


hereditary diffuse gastric adenocarcinoma


developmental delay with hypotonia, myopathy, and brain abnormalities


osteopathia striata with cranial sclerosis


limb-girdle muscular dystrophy due to POMK deficiency


hereditary motor and sensory neuropathy, Okinawa type


hyper-IgE syndrome 6, autosomal dominant, with recurrent infections


thrombocytopenia, X-linked, with or without dyserythropoietic anemia


microcephaly 12, primary, autosomal recessive


intellectual disability, autosomal dominant 3


diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome


Impaired renal tubular reabsorption of chloride


mitochondrial complex 1 deficiency, nuclear type 23


progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome


developmental and epileptic encephalopathy, 5


developmental and epileptic encephalopathy, 15


mitochondrial complex 1 deficiency, nuclear type 29


amastia, bilateral, with ureteral triplication and dysmorphism


familial isolated deficiency of vitamin E


female infertility due to zona pellucida defect


Abnormal morphology of the limbic system


fibrosis, neurodegeneration, and cerebral angiomatosis


short stature with nonspecific skeletal abnormalities 1


mitochondrial complex 2 deficiency, nuclear type 2


neurogenic scapuloperoneal syndrome, Kaeser type


palmoplantar keratoderma, punctate type 1A


fundus dystrophy, pseudoinflammatory, recessive form


Emery-Dreifuss muscular dystrophy 5, autosomal dominant


autosomal recessive humeroradial synostosis


Decreased circulating thyroglobulin concentration


intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly


neurodevelopmental disorder with neuromuscular and skeletal abnormalities


intellectual disability, autosomal recessive 57


peroxisome biogenesis disorder 2A (Zellweger)


developmental delay and seizures with or without movement abnormalities


combined immunodeficiency due to ORAI1 deficiency


hyperemesis gravidarum, susceptibility to


global developmental delay with or without impaired intellectual development


autosomal dominant nonsyndromic hearing loss 31


autosomal dominant nocturnal frontal lobe epilepsy 3


platelet-activating factor acetylhydrolase deficiency


Increased level of platelet-activating factor


developmental and epileptic encephalopathy, 57


congenital disorder of glycosylation with defective fucosylation 2


Charcot-Marie-Tooth disease axonal type 2T


alpha thalassemia-intellectual disability syndrome type 1


combined oxidative phosphorylation deficiency 48


intellectual disability, autosomal dominant 5


hyperpigmentation with or without hypopigmentation, familial progressive


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1


Reduced glycerol kinase activity in cultured fibroblasts


immunodeficiency 63 with lymphoproliferation and autoimmunity


Dysplastic distal thumb phalanges with a central hole


developmental and epileptic encephalopathy, 21


ichthyosis, split hairs, and amino aciduria


primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency


myopathy, congenital, with structured cores and z-line abnormalities


migraine with or without aura, susceptibility to, 10


SRD5A3-congenital disorder of glycosylation


dyschromatosis universalis hereditaria 3


hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome


cerebellar ataxia, brain abnormalities, and cardiac conduction defects


developmental and epileptic encephalopathy, 34


mitochondrial complex V (ATP synthase) deficiency nuclear type 2


Reduced circulating prekallikrein concentration


Facial palsy secondary to cranial hyperostosis


dyssegmental dysplasia, Rolland-Desbuquois type


autosomal recessive early-onset Parkinson disease 7


autosomal recessive nonsyndromic hearing loss 59


retinitis pigmentosa 87 with choroidal involvement


neurodevelopmental disorder with variable familial hypercholanemia


mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6


otospondylomegaepiphyseal dysplasia, autosomal recessive


Aplasia/Hypoplasia of the capital femoral epiphysis


megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability


short-rib thoracic dysplasia 7 with or without polydactyly


Posterior predominant subcortical band heterotopia


syndromic X-linked intellectual disability 12


hereditary benign intraepithelial dyskeratosis


Abnormal glomerular basement membrane morphology


megalencephalic leukoencephalopathy with subcortical cysts 3


pyruvate dehydrogenase E1-alpha deficiency


Reduced tissue acetyl-CoA carboxylase activity


transient bullous dermolysis of the newborn


oculocerebrofacial syndrome, Kaufman type


developmental and epileptic encephalopathy, 55


sick sinus syndrome 3, susceptibility to


intellectual developmental disorder, X-linked, syndromic 37


arthrogryposis multiplex congenita 2, neurogenic type


epidermolysis bullosa simplex 2B, generalized intermediate


Hao-Fountain syndrome due to USP7 mutation


Ehlers-Danlos syndrome, spondylocheirodysplastic type


long chain 3-hydroxyacyl-CoA dehydrogenase deficiency


lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome


glycogen storage disease due to aldolase A deficiency


Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity


autosomal recessive spinocerebellar ataxia 10


mitochondrial complex V (ATP synthase) deficiency nuclear type 3


neurodevelopmental disorder with or without autism or seizures


migraine with or without aura, susceptibility to, 11


myopathy, distal, 6, adult-onset, autosomal dominant


Intermittent episodes of respiratory insufficiency due to muscle weakness


coronary artery disease, autosomal dominant, 1


Charcot-Marie-Tooth disease axonal type 2V


progressive familial intrahepatic cholestasis type 2


diabetes, deafness, developmental delay, and short stature syndrome


myopia, high, with cataract and vitreoretinal degeneration


mitochondrial complex 3 deficiency, nuclear type 11


spondyloepimetaphyseal dysplasia, aggrecan type


neurodevelopmental disorder with seizures and speech and walking impairment


congenital hypotonia, epilepsy, developmental delay, and digital anomalies


intellectual disability, X-linked, syndromic, Bain type


microphthalmia, isolated, with coloboma 4


tumoral calcinosis, hyperphosphatemic, familial, 3


cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism


brachydactyly, coloboma, and anterior segment dysgenesis


autosomal recessive nonsyndromic hearing loss 33


autosomal dominant nonsyndromic hearing loss 56


hereditary hypercarotenemia and vitamin A deficiency


Increased circulating beta-carotene concentration


Rajab interstitial lung disease with brain calcifications 2


congenital disorder of deglycosylation 2


Parkinson disease 18, autosomal dominant, susceptibility to


Pallor of dorsal columns of the spinal cord


neurodevelopmental disorder with or without variable brain abnormalities; NEDBA


glycosylphosphatidylinositol biosynthesis defect 25


46,XY disorder of sex development due to testicular 17,20-desmolase deficiency


lissencephaly 9 with complex brainstem malformation


encephalopathy, progressive, early-onset, with episodic rhabdomyolysis


agammaglobulinemia 4, autosomal recessive


methemoglobinemia due to deficiency of methemoglobin reductase


Decreased erythrocyte nicotinamide adenine dinucleotide-cytochrome b5 reductase activity


Abnormal circulating thyroid hormone concentration


sulfite oxidase deficiency due to molybdenum cofactor deficiency type A


acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome


combined immunodeficiency due to STIM1 deficiency


STAT3-related early-onset multisystem autoimmune disease


hyperinsulinemic hypoglycemia, familial, 1


lymphedema-atrial septal defects-facial changes syndrome


transient infantile hypertriglyceridemia and hepatosteatosis


COG4-congenital disorder of glycosylation


auditory neuropathy, autosomal dominant 3


arthrogryposis, congenital, lower limb, X-linked


neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia


neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism


macrocephaly, acquired, with impaired intellectual development


Alzheimer disease, susceptibility to, mitochondrial


Neurovisceral Storage Disease with Curvilinear Bodies


porphyria due to ALA dehydratase deficiency


COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6


Emery-Dreifuss muscular dystrophy 4, autosomal dominant


neurodevelopmental disorder with eye movement abnormalities and ataxia


immunodeficiency 11b with atopic dermatitis


neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities


tumoral calcinosis, hyperphosphatemic, familial, 1


Decreased renal tubular phosphate excretion


Increased renal tubular phosphate reabsorption


congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome


mitochondrial complex 2 deficiency, nuclear type 3


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


autosomal recessive nonsyndromic hearing loss 62


neuronopathy, distal hereditary motor, autosomal dominant 10


herpes simplex encephalitis, susceptibility to, 7


partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome


Decreased circulating dehydroepiandrosterone-sulfate concentration


intellectual disability, autosomal recessive 2


microcephaly, short stature, and limb abnormalities


sebaceous gland hyperplasia, familial presenile


linear skin defects with multiple congenital anomalies 1


developmental and epileptic encephalopathy, 46


mitochondrial complex 1 deficiency, nuclear type 31


autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome


mitochondrial complex 1 deficiency, nuclear type 24


intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency


abdominal obesity-metabolic syndrome quantitative trait locus 2


basal ganglia calcification, idiopathic, 4


hyper-IgE recurrent infection syndrome 4, autosomal recessive


autosomal recessive nonsyndromic hearing loss 8


immunodeficiency 98 with autoinflammation, X-linked


chromosome 3q29 microduplication syndrome


X-linked complicated corpus callosum dysgenesis


intellectual disability, autosomal dominant 4


T-B+ severe combined immunodeficiency due to gamma chain deficiency


neuronopathy, distal hereditary motor, autosomal recessive 8


focal segmental glomerulosclerosis 3, susceptibility to


hydrocephalus, congenital, 5, susceptibility to


intellectual developmental disorder with autistic features and language delay, with or without seizures


ketoacidosis due to monocarboxylate transporter-1 deficiency


peroxisome biogenesis disorder 7A (Zellweger)


Elevated circulating tetracosanoic acid concentration


developmental and epileptic encephalopathy, 85, with or without midline brain defects


neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum


autosomal recessive nonsyndromic hearing loss 28


leukodystrophy, hypomyelinating, 26, with chondrodysplasia


intellectual disability, autosomal recessive 53


Reduced epidermal collagen IV alpha 5 chain staining


Central fundal arteriolar microaneurysms


peroxisome biogenesis disorder 5A (Zellweger)


autosomal recessive nonsyndromic hearing loss 103


spondyloepiphyseal dysplasia with metatarsal shortening


autoinflammation with pulmonary and cutaneous vasculitis


neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures


autosomal recessive distal spinal muscular atrophy 1


Ventilator dependence with inability to wean


ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1


immunodeficiency 109 with lymphoproliferation


cone-rod synaptic disorder, congenital nonprogressive


developmental and epileptic encephalopathy, 26


megacystis-microcolon-intestinal hypoperistalsis syndrome 4


autosomal recessive nonsyndromic hearing loss 93


congenital heart defects, dysmorphic facial features, and intellectual developmental disorder


lethal acantholytic epidermolysis bullosa


Reduced amplitude of dark-adapted bright flash electroretinogram a-wave


developmental and epileptic encephalopathy, 82


brachycephaly, trichomegaly, and developmental delay


macrothrombocytopenia, isolated, 1, autosomal dominant


Axillary and groin hyperpigmentation and hypopigmentation


early-onset myopathy with fatal cardiomyopathy


Elevated circulating calprotectin concentration


Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis


Abnormal cellular immune system morphology


Abnormality of multiple cell lineages in the bone marrow


46,XX testicular disorder of sex development


silver-Russell syndrome due to 7p11.2p13 microduplication


Abnormality of the upper respiratory tract


junctional epidermolysis bullosa inversa


adult pulmonary Langerhans cell histiocytosis


Functional abnormality of the gastrointestinal tract


late-onset junctional epidermolysis bullosa


silver-Russell syndrome due to an imprinting defect of 11p15


silver-Russell syndrome due to maternal uniparental disomy of chromosome 11


recessive dystrophic epidermolysis bullosa inversa


silver-Russell syndrome due to 11p15 microduplication


odontomatosis-aortae esophagus stenosis syndrome


oculocerebral hypopigmentation syndrome of Preus


Impaired sensitivity to thyroid stimulating hormone


Abnormal circulating thyroglobulin concentration


Increased pituitary glycoprotein hormone alpha subunit level


Abnormal blood 5-methyltetrahydrofolate level


adult-onset foveomacular vitelliform dystrophy


Attenuated familial adenomatous polyposis


Mixed hypo- and hyperpigmentation of the skin


generalized junctional epidermolysis bullosa non-Herlitz type


Osteolysis involving bones of the lower limbs


Osteolysis involving bones of the upper limbs


Increased pulmonary capillary wedge pressure


familial papillary thyroid carcinoma with renal papillary neoplasia


PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome


Anomalous origin of left subclavian artery


Noonan syndrome-like disorder with loose anagen hair


port-wine nevi-mega cisterna magna-hydrocephalus syndrome


Aplasia/Hypoplasia of the abdominal wall musculature


Elevated circulating Angiotensin-converting enzyme concentration


Deep cerebral white matter hyperintensities


hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome


Abnormal brain FDG positron emission tomography


Malignant neoplasm of the central nervous system


Anti-salivary protein antibody positivity


Anti-carbonic anhydrase VI antibody positivity


Anti-parotid secretory protein antibody positivity


Abnormal pulmonary thoracic imaging finding


Abnormality of the peripheral nervous system


Abnormal urinary electrolyte concentration


Anomalous origin of left pulmonary artery from ascending aorta


Abnormal gastrointestinal tract morphology


Aplasia/Hypoplasia of the phalanges of the hallux


pediatric acute respiratory distress syndrome


Decreased circulating acid maltase activity


Fatigable weakness of swallowing muscles


Fatigable weakness of respiratory muscles


Abnormal internal carotid artery morphology


ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome


Impaired cortisol response to insulin stimulation test


autosomal dominant epilepsy with auditory features


Unilateral sensorineural hearing impairment


adult-onset autosomal dominant demyelinating leukodystrophy


autosomal dominant epidermolytic ichthyosis


methylmalonic aciduria and homocystinuria


Abnormality on pulmonary function testing


vitamin B12-responsive methylmalonic acidemia


Neonatal electro-clinical seizure with behavior arrest


Abnormal muscle fiber protein expression


muscle-eye-brain disease with bilateral multicystic leucodystrophy


Linear C3 deposits along the epidermal basement membrane zone


Abnormal circulating glutamine concentration


Abnormal urine alpha-ketoglutarate concentration


inherited glutathione synthetase deficiency


Elevated circulating isovalerylcarnitine concentration


Fatiguable weakness of proximal limb muscles


Increased circulating androgen concentration


Anti-intrinsic factor antibody positivity


congenital muscular dystrophy with intellectual disability


Aplasia/hypoplasia involving bones of the lower limbs


Aplasia/hypoplasia involving bones of the upper limbs


Abnormal circulating B-type natriuretic peptide concentration


visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome


spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome


Abnormal circulating apolipoprotein concentration


Decreased erythrocyte sedimentation rate


Functional abnormality of the middle ear


steroid dehydrogenase deficiency-dental anomalies syndrome


intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome


congenital muscular dystrophy without intellectual disability


rapidly involuting congenital hemangioma


Abnormal intrahepatic bile duct morphology


Dermatological manifestations of systemic disorders


Abnormal pulmonary valve cusp morphology


Abnormal lower-limb motor evoked potentials


Decreased circulating vitamin B1 concentration


Abnormality of the internal auditory canal


Congenital muscular dystrophy with cerebellar involvement


Abnormal cranial suture/fontanelle morphology


X-linked spasticity-intellectual disability-epilepsy syndrome


congenital infiltrating lipomatosis of the face


craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome


X-linked intellectual disability, Schimke type


Reduced tissue carnitine O-palmitoyltransferase 2 activity


Abnormal urinary nitrogen compound level


Decreased circulating catecholamine concentration


Abnormal distal phalanx morphology of finger


Abnormal proximal phalanx morphology of the hand


Abnormal morphology of the proximal phalanx of the hallux


XYLT1-congenital disorder of glycosylation


Abnormal tricuspid valve annulus morphology


Abnormal tricuspid valve leaflet morphology


multiple sclerosis-ichthyosis-factor VIII deficiency syndrome


benign recurrent intrahepatic cholestasis


blindness - scoliosis - arachnodactyly syndrome


Abnormal circulating interleukin concentration


Elevated circulating vitamin B12 concentration


Elevated circulating soluble FASL concentration


medial condensing osteitis of the clavicle


Patchy reduction of bone mineral density


Activating thyroid-stimulating hormone receptor defect


Abnormality of the musculature of the upper arm


anterior cutaneous nerve entrapment syndrome


Focal EEG discharges with secondary generalization


central nervous system calcification-deafness-tubular acidosis-anemia syndrome


Abnormality of tumor necrosis factor secretion


Aplasia/Hypoplasia affecting the anterior segment of the eye


Anti-threonyl-tRNA synthetase antibody positivity


Anti-alanyl-tRNA synthetase antibody positivity


Anti-glycyl tRNA-synthetase antibody positivity


Anti-aminoacyl-tRNA synthetase antibody positivity


Anti-isoleucyl tRNA-synthetase antibody positivity


Anti-phenylalanyl tRNA synthetase antibody positivity


Anti-tyrosyl-tRNA synthetase antibody positivity


Anti-asparaginyl-tRNA synthetase antibody positivity


Anti-histidyl tRNA synthetase antibody positivity


autosomal recessive cerebellar ataxia-blindness-deafness syndrome


Predominantly dermal neutrophilic infiltrate


symphalangism with multiple anomalies of hands and feet


Reduced proximal interphalangeal joint space


Symphalangism affecting the phalanges of the toes


Abnormality of the distal phalanges of the toes


Aplasia/Hypoplasia of the distal phalanx of the 5th toe


Anti-phosphatidyl glycerol antibody positivity


Anti-phosphatidyl inositol antibody positivity


Anti-phosphatidyl serine antibody positivity


Anti-beta 2 glycoprotein I antibody positivity


Anti-beta-2-Glycoprotein I IgM antibody positivity


Anti-phosphatidyl ethanolamine antibody positivity


Anti-phosphatidyl choline antibody positivity


Abnormality of the temporomandibular joint


deafness-ear malformation-facial palsy syndrome


Abnormal periauricular region morphology


Impaired visually enhanced vestibulo-ocular reflex


ossification anomalies-psychomotor developmental delay syndrome


Deafness-enamel hypoplasia-nail defects syndrome


deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome


hearing loss-familial salivary gland insensitivity to aldosterone syndrome


tubular renal disease-cardiomyopathy syndrome


global developmental delay-osteopenia-ectodermal defect syndrome


combined pituitary hormone deficiencies, genetic form


central nervous system infectious disorder


Increased circulating specific IgE antibody concentration


immunoglobulin G4-related sclerosing disease


deafness-epiphyseal dysplasia-short stature syndrome


adenosine monophosphate deaminase deficiency


autosomal recessive spastic paraplegia type 59


congenital bilateral absence of vas deferens


Abnormal circulating lactate dehydrogenase concentration


Linear IgA deposits along the epidermal basement membrane zone


white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome


Abnormal circulating potassium concentration


Oil-drop brown pigmentation of the corneal limbus


Reduced circulating aldolase concentration


intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome


fetal and neonatal alloimmune thrombocytopenia


Abnormal number of granulocyte precursors


symptomatic form of hemophilia A in female carriers


Generalized juvenile polyposis/juvenile polyposis coli


contractures-ectodermal dysplasia-cleft lip/palate syndrome


Abnormal mandible condylar process morphology


EEG with periodic lateralized epileptiform discharges


Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2


Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1


polycystic ovaries-urethral sphincter dysfunction syndrome


Prader-Willi syndrome due to imprinting mutation


Visual acuity light perception with projection


Prader-Willi syndrome due to translocation


High-grade dysplasia in patients with Barrett esophagus


Coarctation of the descending aortic arch


Abnormal left ventricular outflow tract morphology


male infertility with teratozoospermia due to single gene mutation


Non-convulsive status epilepticus without coma


osteopathia striata-pigmentary dermopathy-white forelock syndrome


polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly


osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome


autosomal recessive distal osteolysis syndrome


X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome


Male infertility with azoospermia or oligozoospermia due to single gene mutation


pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome


Abnormal morphology of the olfactory bulb


imperforate oropharynx-costo vetebral anomalies syndrome


Increased circulating procalcitonin concentration


Increased circulating metamyelocyte count


Abnormal circulating histidine concentration


horizontal gaze palsy with progressive scoliosis


Aplasia/Hypoplasia of the frontal sinuses


skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome


Aplasia/hypoplasia involving bones of the extremities


Impaired ristocetin cofactor assay activity


Muscle fiber intranuclear inclusion bodies


craniofrontonasal dysplasia-Poland anomaly syndrome


Aplasia/Hypoplasia involving bones of the skull


Aplasia/Hypoplasia involving the shoulder musculature


alopecia - intellectual disability syndrome


congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome


Abnormal external ear cartilage morphology


46,XY difference of sex development due to isolated 17,20-lyase deficiency


Abnormal circulating corticosterone level


Decreased circulating androgen concentration


Abnormal circulating enzyme concentration


Abnormal circulating carbohydrate concentration


Increased circulating antimullerian hormone concentration


Partial diaphragmatic absence of pericardium


Infantile sensorineural hearing impairment


corticosteroid-sensitive aseptic abscess syndrome


Abnormal circulating dehydroepiandrosterone concentration


craniodigital syndrome-intellectual disability syndrome


Increased urinary 11-deoxycorticosterone level


Premature fusion of the radial epiphyseal plates


Supracardiac total anomalous pulmonary venous connection


Infracardiac total anomalous pulmonary venous connection


Mixed total anomalous pulmonary venous connection


Jessner lymphocytic infiltration of the skin


Abnormal circulating cytokine concentration


Abnormal glossopharyngeal nerve morphology


congenital herpes simplex virus infection


8p inverted duplication/deletion syndrome


Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome


Excessive skin wrinkling on dorsum of hands and fingers


pectus excavatum-macrocephaly-dysplastic nails syndrome


renal caliceal diverticuli-deafness syndrome


thin ribs-tubular bones-dysmorphism syndrome


Multifocal hyperintensity of cerebral white matter on MRI


Abnormality of reproductive system physiology


Confluent hyperintensity of cerebral white matter on MRI


Abnormal morphology of musculature of pharynx


spastic paraplegia-glaucoma-intellectual disability syndrome


spastic paraplegia-facial-cutaneous lesions syndrome


spastic paraplegia-precocious puberty syndrome


Anomalous origin of the left common carotid artery from the main pulmonary artery


Paradoxical splitting of the second heart sound


Fixed splitting of the second heart sound


Pelizaeus-Merzbacher disease, transitional form


familial thoracic aortic aneurysm and aortic dissection


Pelizaeus-Merzbacher disease, classic form


erosive pustular dermatosis of the scalp


Anti-SUMO-activating enzyme subunit 1 antibody positivity


Anti-SUMO-activating enzyme subunit 2 antibody positivity


Anti-transcription intermediary factor-1gamma antibody positivity


Anti-SUMO-activating enzyme antibody positivity


Anti-nuclear matrix protein-2 antibody positivity


KLHL9-related early-onset distal myopathy


Abnormal brain choline/creatine ratio by MRS


Pelizaeus-Merzbacher disease in female carriers


Congenital stationary night blindness with normal fundus


Congenital stationary night blindness with abnormal fundus


Hypoplasia of mandible relative to maxilla


autosomal recessive hypohidrotic ectodermal dysplasia


Decreased sialylation of O-linked protein glycosylation


Abnormality of central nervous system electrophysiology


primary non-essential cutis verticis gyrata


Marked delay in eruption of permanent teeth


paternal 14q32.2 hypomethylation syndrome


maternal 14q32.2 hypermethylation syndrome


DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome


parkinsonism with dementia of Guadeloupe


Weakness due to upper motor neuron dysfunction


Abnormal best corrected visual acuity test


Abnormal circulating insulin concentration


microcephaly-polymicrogyria-corpus callosum agenesis syndrome


Abnormal amplitude of pattern electroretinogram


Abnormal timing of pattern electroretinogram


Abnormal anterior eye segment morphology


Abnormality of endocrine pancreas physiology


multiple congenital anomalies due to 14q32.2 maternally expressed gene defect


Irregular articular surfaces of the elbow joints


Abnormal circulating C-peptide concentration


Abnormal circulating fatty-acid concentration


Increased circulating surfactant protein level


Abnormal morphology of bony orbit of skull


Abnormal glomerular mesangium morphology


Aplasia/Hypoplasia of the phalanges of the 2nd toe


punctate palmoplantar keratoderma type 1


combined deficiency of factor V and factor VIII


Adrenocorticotropin deficient adrenal insufficiency


Atrophy/Degeneration involving the caudate nucleus


catecholaminergic polymorphic ventricular tachycardia


Blood pressure substantially higher in legs than arms


radioulnar synostosis-developmental delay-hypotonia syndrome


infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome


Anomalous origin of one pulmonary artery from ascending aorta


Anomalous origin of the left common carotid artery from the brachiocephalic artery


Anti-myelin oligodendrocyte glycoprotein antibody positivity


Abnormal dermoepidermal junction morphology


Abnormal erythrocyte enzyme concentration or activity


Abnormal circulating carboxylic acid concentration


dystrophic epidermolysis bullosa, nails only


sporadic infantile bilateral striatal necrosis


idiopathic pulmonary arterial hypertension


neonatal inflammatory skin and bowel disease


idiopathic disseminated cytomegalovirus infection


hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency


Abnormal circulating vitamin A concentration


Abnormal circulating vitamin E concentration


Increased total hemolytic complement activity


congenital fiber-type disproportion myopathy


gingival fibromatosis-facial dysmorphism syndrome


generalized epilepsy with febrile seizures plus


hereditary sensory and autonomic neuropathy type 1


X-linked neurodegenerative syndrome, Hamel type


X-linked intellectual disability-ataxia-apraxia syndrome


X-linked neurodegenerative syndrome, Bertini type


cleft palate-short stature-vertebral anomalies syndrome


Kleefstra syndrome due to a point mutation


Abnormality of the musculoskeletal system


X-linked intellectual disability, Stevenson type


X-linked intellectual disability, Stoll type


X-linked intellectual disability-acromegaly-hyperactivity syndrome


X-linked intellectual disability, Pai type


severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency


X-linked intellectual disability, Seemanova type


cleft lip/palate-deafness-sacral lipoma syndrome


cleft lip/palate-intestinal malrotation-cardiopathy syndrome


blepharophimosis-ptosis-epicanthus inversus syndrome plus


inclusion body myopathy with Paget disease of bone and frontotemporal dementia


Ubiquitin-positive cerebral inclusion bodies


X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome


X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome


Abnormality of the musculature of the limbs


X-linked intellectual disability-macrocephaly-macroorchidism syndrome


autosomal dominant Charcot-Marie-Tooth disease type 2K


polymicrogyria with optic nerve hypoplasia


neuronopathy, distal hereditary motor, type 5


Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis


Foveal hyporeflective spaces on macular OCT


inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency


autosomal recessive spastic paraplegia type 60


benign paroxysmal torticollis of infancy


Abnormal circulating leptin concentration


axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy


Increased circulating beta-2-microglobulin level


autosomal recessive spastic paraplegia type 66


X-linked intellectual disability-plagiocephaly syndrome


Increased anti-parasite IgE antibody level


autosomal recessive spastic paraplegia type 67


Koolen-de Vries syndrome due to a point mutation


Abnormal circulating amylase concentration


xeroderma pigmentosum-Cockayne syndrome complex


autosomal recessive spastic paraplegia type 69


autosomal recessive spastic paraplegia type 70


Abnormal posterior pituitary morphogenesis


cryptomicrotia-brachydactyly-excess fingertip arch syndrome


autosomal recessive spastic paraplegia type 71


short stature-webbed neck-heart disease syndrome


short stature-deafness-neutrophil dysfunction-dysmorphism syndrome


short stature-valvular heart disease-characteristic facies syndrome


Abnormal pigmentation of the oral mucosa


short stature-wormian bones-dextrocardia syndrome


carnitine palmitoyltransferase II deficiency


familial isolated dilated cardiomyopathy


Fatigable weakness of distal limb muscles


Aplasia/Hypoplasia involving the femoral head and neck


Abnormal circulating alpha-fetoprotein concentration


X-linked intellectual disability, Sutherland-Haan type


Hereditary breast and/or ovarian cancer syndrome


central nervous system organ benign neoplasm


thyroid gland undifferentiated (anaplastic) carcinoma


X-linked intellectual disability, Porteous type


X-linked intellectual disability, Golabi-Ito-hall type


Abnormal distal femoral metaphysis morphology


progressive familial intrahepatic cholestasis


Elevated alkaline phosphatase of hepatic origin


Congenital malformation of the great arteries


autosomal recessive hyperinsulinism due to Kir6.2 deficiency


Abnormal response to glucagon stimulation test


Decreased circulating free fatty acid level


Increased proportion of CD25+ mast cells


Abnormal atrioventricular valve morphology


EMG: continuous motor unit activity at rest


Midline interhemispheric variant of holoprosencephaly


peripheral primitive neuroectodermal tumor


Peripheral primitive neuroectodermal neoplasm


Abnormal superior cerebellar peduncle morphology


striatal degeneration, autosomal dominant


Abnormal lateral semicircular canal morphology


undifferentiated connective tissue syndrome


Increased hepatitis B virus antibody level


Abnormal circulating hormone concentration


Reticulonodular pattern on pulmonary HRCT


autosomal semi-dominant severe lipodystrophic laminopathy


leukoencephalopathy with vanishing white matter


Primary hypomagnesemia-refractory seizures-intellectual disability syndrome


incessant infant ventricular tachycardia


secondary non-traumatic avascular necrosis


Acute disseminated intravascular coagulation


localized junctional epidermolysis bullosa, non-Herlitz type


recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome


Kleefstra syndrome due to 9q34 microdeletion


Aplasia/Hypoplasia of the middle phalanx of the 3rd finger


hereditary persistence of fetal hemoglobin-sickle cell disease syndrome


recessive dystrophic epidermolysis bullosa-generalized other


Prader-Willi syndrome due to paternal 15q11q13 deletion


Angelman syndrome due to maternal 15q11q13 deletion


Angelman syndrome due to paternal uniparental disomy of chromosome 15


hereditary pulmonary alveolar proteinosis


Abnormal circulating protein concentration


Elevated circulating carcinoembryonic antigen concentration


autosomal dominant nocturnal frontal lobe epilepsy


Aplasia/Hypoplasia of the fallopian tube


paternal uniparental disomy of chromosome 6


paternal uniparental disomy of chromosome 5


microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome


Familial isolated restrictive cardiomyopathy


wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia


maternal uniparental disomy of chromosome 14


maternal uniparental disomy of chromosome 9


Abnormal male internal genitalia morphology


silver-Russell syndrome due to maternal uniparental disomy of chromosome 7


maternal uniparental disomy of chromosome 6


maternal uniparental disomy of chromosome 4


maternal uniparental disomy of chromosome 2


Duplication of the distal phalanx of the 5th finger


Aplasia/hypoplasia involving bones of the hand


childhood-onset benign chorea with striatal involvement


congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome


combined hamartoma of the retina and retinal pigment epithelium


Hypothalamic luteinizing hormone-releasing hormone deficiency


behavioral variant of frontotemporal dementia


nebulin-related early-onset distal myopathy


EEG with persistent abnormal rhythmic activity


oligoarticular juvenile idiopathic arthritis


adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy


Decreased galactosylation of N-linked protein glycosylation


posttransplant acute limbic encephalitis


frontotemporal dementia with motor neuron disease


Abnormal metacarpophalangeal joint morphology


Abnormal circulating pregnenolone concentration


Abnormal response to human chorionic gonadotrophin stimulation test


Abnormal metacarpal epiphysis morphology


Abnormal umbilical cord blood vessel morphology


rheumatoid factor-negative juvenile idiopathic arthritis


Abnormal circulating creatine concentration


progressive myoclonic epilepsy with dystonia


spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome


Increased reactive oxygen species production


Abnormal CSF pyruvate family amino acid concentration


Liver kidney microsome type 1 antibody positivity


mirror polydactyly-vertebral segmentation-limbs defects syndrome


Mowat-Wilson syndrome due to a ZEB2 point mutation


Focal hypointensity of cerebral white matter on MRI


fatty acid hydroxylase-associated neurodegeneration


Abnormality of the vertebral spinous processes


Advanced pneumatization of the mastoid process


Abnormal concentration of acylcarnitine in the urine


hypothyroidism due to deficient transcription factors involved in pituitary development or function


X-linked cerebral-cerebellar-coloboma syndrome syndrome


Abnormality of the brachial nerve plexus


Mowat-Wilson syndrome due to monosomy 2q22


Abnormal cardiovascular system physiology


Monoclonal light chain cardiac amyloidosis


Pulmonary interstitial high-resolution computed tomography abnormality


X-linked intellectual disability, Cilliers type


Genetic transient congenital hypothyroidism


Abnormal radioactive iodine uptake test result


Abnormal enteric nervous system morphology


brachydactyly-mesomelia-intellectual disability-heart defects syndrome


capillary malformation-arteriovenous malformation syndrome


congenital hypothyroidism due to maternal intake of antithyroid drugs


Absent ossification of capital femoral epiphysis


sporadic adult-onset ataxia of unknown etiology


Abnormal fundus autofluorescence imaging


Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15


paternal uniparental disomy of chromosome X


rheumatoid factor-positive polyarticular juvenile idiopathic arthritis


psoriasis-related juvenile idiopathic arthritis


enthesitis-related juvenile idiopathic arthritis


Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk


Positive gastric CMV intranuclear inclusions


myopathy, lactic acidosis, and sideroblastic anemia


maternal uniparental disomy of chromosome X


myalgia-eosinophilia syndrome associated with tryptophan


Abnormal appendicular skeleton morphology


iatrogenic or traumatic pituitary deficiency


cystic fibrosis-gastritis-megaloblastic anemia syndrome


Abnormal static automated perimetry test


Huntington disease-like syndrome due to C9ORF72 expansions