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


Alzheimer disease 19

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

description: Any Alzheimer disease in which the cause of the disease is a mutation in the PLD3 gene.


name: hyperphosphatasia with intellectual disability syndrome 4

description: Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP3 gene.


renal hypodysplasia/aplasia 2

description: Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene.


name: Bosch-Boonstra-Schaaf optic atrophy syndrome

description: Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.


premature ovarian failure 8

description: Any primary ovarian failure in which the cause of the disease is a mutation in the STAG3 gene.


premature ovarian failure 9

description: Any primary ovarian failure in which the cause of the disease is a mutation in the HFM1 gene.


retinitis pigmentosa 68

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene.


pachyonychia congenita 3

description: Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6A gene.


pachyonychia congenita 4

description: Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene.


nemaline myopathy 9

description: Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene.


name: palmoplantar keratoderma, nonepidermolytic, focal or diffuse


name: developmental and epileptic encephalopathy, 19

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRA1 gene.


atrial standstill 2

description: Any atrial standstill in which the cause of the disease is a mutation in the NPPA gene.


description: Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis.


name: hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency


name: polymicrogyria, bilateral perisylvian, autosomal recessive


name: severe combined immunodeficiency due to LCK deficiency

description: An extremely rare autosomal recessive condition caused by mutation(s) in the LCK gene, encoding tyrosine-protein kinase Lck. It is characterized by T-cell dysfunction.


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


name: intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency


name: complex cortical dysplasia with other brain malformations 5

description: Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2A gene.


name: IL21-related infantile inflammatory bowel disease


name: autosomal recessive spinocerebellar ataxia 16

description: Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene.


atrial fibrillation, familial, 15

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene.


name: complex cortical dysplasia with other brain malformations 6

description: Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB gene.


name: female infertility due to zona pellucida defect

description: Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa.


Desbuquois dysplasia 2

description: Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene.


name: congenital heart defects, multiple types, 4

description: Any congenital heart defects, multiple types in which the cause of the disease is a mutation in the NR2F2 gene.


retinitis pigmentosa 69

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the KIZ gene.


name: short stature with microcephaly and distinctive facies


name: intellectual disability, autosomal recessive 42

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene.


pontocerebellar hypoplasia type 10

description: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene.


Seckel syndrome 8

description: Any Seckel syndrome in which the cause of the disease is a mutation in the DNA2 gene.


pontocerebellar hypoplasia type 9

description: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene.


abdominal obesity-metabolic syndrome 3

description: Any metabolic syndrome in which the cause of the disease is a mutation in the DYRK1B gene.


immunodeficiency 23

description: A condition of decreased or absent presence or activity of phosphoglucomutase 3. Deficiency of this protein is associated with immunodeficiency 23.


name: intellectual disability, autosomal recessive 43

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the WASHC4 gene.


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


name: mitochondrial complex III deficiency nuclear type 7

description: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene.


name: intellectual disability, autosomal dominant 24

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DEAF1 gene.


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

description: An autosomal dominant condition caused by mutations(s) in the AHDC1 gene, encoding transcription factor Gibbin. It has a broad clinical spectrum, which includes impaired intellectual development, obstructive sleep apnea and mild facial dysmorphia.


name: pigmented nodular adrenocortical disease, primary, 4

description: Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKACA gene.


name: developmental and epileptic encephalopathy, 21

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the NECAP1 gene.


name: autism spectrum disorder due to AUTS2 deficiency

description: Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.


name: autosomal recessive nonsyndromic hearing loss 101

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene.


name: mitochondrial complex III deficiency nuclear type 8

description: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the LYRM7 gene.


spermatogenic failure 13

description: Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene.


spermatogenic failure 14

description: Any azoospermia in which the cause of the disease is a mutation in the ZMYND15 gene.


Aicardi-Goutieres syndrome 7

description: Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene.


name: postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

description: Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.


pontocerebellar hypoplasia type 2E

description: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene.


name: developmental and epileptic encephalopathy, 23


cone-rod dystrophy 19

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the TTLL5 gene.


nephrotic syndrome, type 10

description: Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene.


nephronophthisis 18

description: Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene.


name: congenital diarrhea 7 with exudative enteropathy

description: Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.


name: intellectual disability, autosomal dominant 27


name: developmental and epileptic encephalopathy, 24

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the HCN1 gene.


primary ciliary dyskinesia 29

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCNO gene.


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

description: An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13.


name: colobomatous microphthalmia-rhizomelic dysplasia syndrome

description: Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.


name: cholestasis, progressive familial intrahepatic, 4

description: Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene.


Tatton-Brown-Rahman overgrowth syndrome

description: A rare multiple congenital anomalies syndrome characterized by greater height, mild to moderate intellectual disability and distinctive facial appearance like round face, heavy, horizontal eyebrows and narrow palpebral fissures.


myopathy, tubular aggregate, 2

description: Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene.


hypotrichosis 12

description: Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene.


name: amelogenesis imperfecta hypomaturation type 2A5

description: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the SLC24A4 gene.


platelet-type bleeding disorder 18

description: Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.


name: leukoencephalopathy, progressive, with ovarian failure


name: familial median cleft of the upper and lower lips

description: Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family.


name: polyglucosan body myopathy 1 with or without immunodeficiency

description: A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported.


hypotrichosis 13

description: Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene.


name: severe combined immunodeficiency due to CTPS1 deficiency

description: Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.


name: developmental and epileptic encephalopathy, 25

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC13A5 gene.


lymphatic malformation 4

description: Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene.


Diamond-Blackfan anemia 13

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS29 gene.


name: frontotemporal dementia and/or amyotrophic lateral sclerosis 2

description: An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.


dilated cardiomyopathy 1NN

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene.


name: combined oxidative phosphorylation defect type 20

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene.


name: combined oxidative phosphorylation defect type 21

description: Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.


retinitis pigmentosa 70

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF4 gene.


name: tall stature-scoliosis-macrodactyly of the great toes syndrome

description: Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.


name: severe neurodegenerative syndrome with lipodystrophy


short stature due to GHSR deficiency

description: Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.


description: STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.


pancreatic agenesis 2

description: Any pancreatic agenesis in which the cause of the disease is a mutation in the PTF1A gene.


description: Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the AKT3 gene.


description: Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the CCND2 gene.


name: intellectual disability, autosomal recessive 44

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the METTL23 gene.


spinocerebellar ataxia type 37

description: Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by a cerebellar syndrome along with altered vertical eye movements.


hyperlipoproteinemia, type 1D

description: Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene.


orofaciodigital syndrome type 14

description: Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.


name: STAT3-related early-onset multisystem autoimmune disease

description: An autosomal dominant condition caused by mutation(s) in the STAT3 gene, encoding signal transducer and activator of transcription 3. It is characterized by variable features along a spectrum of autoimmune disorders affecting multiple organs. Common manifestations may include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis.


name: kallikrein, decreased urinary activity of


name: ACTH-independent macronodular adrenal hyperplasia 2

description: Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene.


spinocerebellar ataxia type 38

description: Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.


myopathy, centronuclear, 5

description: Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene.


name: ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome

description: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.


name: short stature due to primary acid-labile subunit deficiency

description: Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity.


glucocorticoid resistance

description: An autosomal dominant condition due to mutation(s) in the NR3C1 gene, encoding the glucocorticoid receptor, resulting in decreased receptor affinity to glucocorticoids. Compensatory activation of the hypothalamic- pituitary-adrenal (HPA) axis results in increased mineralocorticoid and androgen production; clinical manifestations of glucocorticoid deficiency are rare.


vesicoureteral reflux 8

description: Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene.


name: severe combined immunodeficiency due to DNA-PKcs deficiency

description: Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.


nanophthalmos 4

description: Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene.


cone-rod dystrophy 20

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the POC1B gene.


name: autosomal recessive nonsyndromic hearing loss 102

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene.


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

description: A genetic variant of Mendelian susceptibility to mycobacterial disease characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).


name: intellectual disability, autosomal recessive 45

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FBXO31 gene.


name: LIPE-related familial partial lipodystrophy


Bardet-Biedl syndrome 2

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene.


Bardet-Biedl syndrome 5

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS5 gene.


Bardet-Biedl syndrome 7

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene.


Bardet-Biedl syndrome 8

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene.


Bardet-Biedl syndrome 9

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene.


Bardet-Biedl syndrome 10

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene.


Bardet-Biedl syndrome 11

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene.


Bardet-Biedl syndrome 12

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene.


Bardet-Biedl syndrome 13

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene.


Bardet-Biedl syndrome 14

description: A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21.


Bardet-Biedl syndrome 15

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the WDPCP gene.


Bardet-Biedl syndrome 16

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene.


Bardet-Biedl syndrome 17

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene.


Bardet-Biedl syndrome 18

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene.


Bardet-Biedl syndrome 19

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene.


description: An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum thyroxine; (T4) in euthyroid patients with abnormal serum albumin that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and tsh are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the alb gene on chromosome 4.


congenital analbuminemia

description: Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).


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

description: Any isolated congenital breast hypoplasia/aplasia in which the cause of the disease is a mutation in the PTPRF gene.


focal segmental glomerulosclerosis 7

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene.


familial dysfibrinogenemia

description: Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.


immunodeficiency 36

description: An autosomal dominant condition caused by mutation(s) in the PIK3R1 gene, encoding phosphatidylinositol 3-kinase regulatory subunit alpha. It is characterized by a heterogenous phenotype, including recurrent respiratory infections, lymphoproliferation, and antibody deficiency. There is an increased likelihood of development of B-cell lymphoma.


name: Hennekam lymphangiectasia-lymphedema syndrome 2

description: Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene.


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


name: autosomal recessive severe congenital neutropenia due to JAGN1 deficiency

description: Severe congenital neutropenia inherited in an autosomal recessive pattern and caused by mutation(s) in the JAGN1 gene, encoding protein jagunal homolog 1.


name: hyperphosphatasia with intellectual disability syndrome 5

description: Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGW gene.


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

description: Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene.


Adams-Oliver syndrome 5

description: Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene.


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

description: Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.


name: hypogonadotropic hypogonadism 22 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FEZF1 gene.


focal segmental glomerulosclerosis 8

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene.


name: progressive encephalopathy with leukodystrophy due to DECR deficiency

description: Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop.


primary ciliary dyskinesia 30

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene.


Neu-Laxova syndrome 2

description: Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PSAT1 gene.


name: Charcot-Marie-Tooth disease recessive intermediate D

description: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene.


congenital myasthenic syndrome 7

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SYT2 gene.


name: autosomal recessive nonsyndromic hearing loss 103

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene.


name: autosomal dominant nonsyndromic hearing loss 65

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene.


name: mitochondrial proton-transporting ATP synthase complex deficiency

description: A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS).


name: periodic fever-infantile enterocolitis-autoinflammatory syndrome


name: microcephaly 13, primary, autosomal recessive

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene.


name: autosomal recessive limb-girdle muscular dystrophy type 2U

description: Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene.


spinocerebellar ataxia type 40

description: Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.


name: developmental and epileptic encephalopathy, 26

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene.


mirror movements 3

description: Any familial congenital mirror movements in which the cause of the disease is a mutation in the DNAL4 gene.


name: porokeratosis 8, disseminated superficial actinic type


name: inflammatory skin and bowel disease, neonatal, 2

description: Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the EGFR gene.


name: intellectual disability, autosomal dominant 29

description: Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the SETBP1 gene.


name: retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies

description: An autosomal dominant condition caused by mutation(s) in the ITM2B gene, encoding integral membrane protein 2B. It is characterized by progressive loss of central vision, and inner retinal dystrophy with ganglion cell abnormalities.


name: microcephaly 12, primary, autosomal recessive

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK6 gene.


pontocerebellar hypoplasia, type 1C

description: Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene.


name: intellectual disability, autosomal dominant 30

description: Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the ZMYND11 gene.


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

description: Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful.


name: diabetes mellitus, noninsulin-dependent, 5

description: Any type 2 diabetes mellitus in which the cause of the disease is a mutation in the TBC1D4 gene.


name: limb-girdle muscular dystrophy due to POMK deficiency

description: Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence.


name: ketoacidosis due to monocarboxylate transporter-1 deficiency


immunodeficiency 37

description: Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene.


description: Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/wooly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although wooly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.


name: autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

description: A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V.


name: psoriasis 15, pustular, susceptibility to

description: Any generalized pustular psoriasis in which the cause of the disease is a mutation in the AP1S3 gene.


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


name: mitochondrial complex III deficiency nuclear type 9

description: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene.


name: familial cold autoinflammatory syndrome 4

description: Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene.


name: intellectual disability, autosomal recessive 46

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NDST1 gene.


atrial conduction disease

description: Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted.


name: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

description: Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-GuC)rin (BCG) infections.


name: autosomal recessive spinocerebellar ataxia 17

description: Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene.


Perrault syndrome 5

description: Any Perrault syndrome in which the cause of the disease is a mutation in the TWNK gene.


name: developmental and epileptic encephalopathy, 27

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene.


hypomyelinating leukodystrophy 9

description: Any leukodystrophy in which the cause of the disease is a mutation in the RARS gene.


Catel-Manzke syndrome

description: Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis.


vitelliform macular dystrophy 4

description: Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene.


vitelliform macular dystrophy 5

description: Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG2 gene.


name: Charcot-Marie-Tooth disease axonal type 2S

description: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene.


description: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.


nemaline myopathy 10

description: Any nemaline myopathy in which the cause of the disease is a mutation in the LMOD3 gene.


aortic aneurysm, familial thoracic 9

description: Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MFAP5 gene.


name: macular dystrophy with central cone involvement


microcephaly and chorioretinopathy 2

description: Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the PLK4 gene.


name: generalized epilepsy with febrile seizures plus, type 9

description: Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene.


platelet-type bleeding disorder 19

description: Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene.


name: chronic mountain sickness, susceptibility to


name: 46,XX ovarian dysgenesis-short stature syndrome


progressive myoclonic epilepsy type 7

description: Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCNC1 gene.


name: juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome


name: intellectual disability, autosomal recessive 47

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FMN2 gene.


name: combined oxidative phosphorylation defect type 23

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene.


polyglucosan body myopathy type 2

description: Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene.


name: progeroid features-hepatocellular carcinoma predisposition syndrome


name: chronic atrial and intestinal dysrhythmia

description: A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO).


cerebellar-facial-dental syndrome

description: A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has material basis in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32.


name: autosomal recessive spinocerebellar ataxia 18

description: Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.


amyotrophic lateral sclerosis type 22

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TUBA4A gene.


name: autosomal dominant mitochondrial myopathy with exercise intolerance


name: developmental and epileptic encephalopathy, 28

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene.


lissencephaly 6 with microcephaly

description: Any microlissencephaly in which the cause of the disease is a mutation in the KATNB1 gene.


thrombocytopenia 5

description: Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene.


nephronophthisis 19

description: Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene.


name: fibrosis of extraocular muscles, congenital, 5

description: Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene.


focal segmental glomerulosclerosis 9

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene.


amelogenesis imperfecta type 1H

description: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene.


name: motor developmental delay due to 14q32.2 paternally expressed gene defect

description: A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father.


congenital myasthenic syndrome 15

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene.


congenital myasthenic syndrome 14

description: Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene.


osteogenesis imperfecta type 16

description: An osteogenesis imperfecta that has material basis in contiguous gene deletion on chromosome 11p11.


progressive myoclonic epilepsy type 8

description: Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene.


name: myopathy due to calsequestrin and SERCA1 protein overload

description: Myopathy due to calsequestrin and SERCA1 protein overload is characterized by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.


name: combined oxidative phosphorylation defect type 24

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the NARS2 gene.


long QT syndrome 14

description: Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene.


name: lethal congenital contracture syndrome 6

description: Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ZBTB42 gene.


long QT syndrome 15

description: Any long QT syndrome in which the cause of the disease is a mutation in the CALM2 gene.


name: short stature with nonspecific skeletal abnormalities


name: lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

description: Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.


peeling skin syndrome type A

description: Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS, a type of ichthyosis, characterized by generalized white scaling and superficial painless peeling of the skin.


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

description: A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases.


ataxia - oculomotor apraxia type 4

description: Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene.


name: autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

description: A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described.


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


amelogenesis imperfecta type 1F

description: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMBN gene.


name: neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome


name: mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency

description: An autosomal recessive condition caused by mutation(s) in the ECHS1 gene, encoding enoyl-CoA hydratase, mitochondrial. The condition represents a clinical spectrum in which there are multiple phenotypes.


congenital bile acid synthesis defect 5

description: Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene.


cataract 43

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the UNC45B gene.


name: Charcot-Marie-Tooth disease axonal type 2U

description: Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.


name: glutamate pyruvate transaminase 2 deficiency


hereditary spastic paraplegia 73

description: Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.


name: lethal congenital contracture syndrome 7

description: Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the CNTNAP1 gene.


name: lethal congenital contracture syndrome 8

description: Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADCY6 gene.


Cole-Carpenter syndrome 2

description: Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene.


name: peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome


Singleton-Merten syndrome 2

description: Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene.


name: short-rib thoracic dysplasia 13 with or without polydactyly

description: An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23.


congenital myasthenic syndrome 17

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene.


Senior-Loken syndrome 8

description: Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene.


name: intellectual disability, autosomal dominant 33

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene.


congenital myasthenic syndrome 2A

description: A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous mutation in the CHRNB1 gene on chromosome 17p13.


congenital myasthenic syndrome 2C

description: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.


congenital myasthenic syndrome 3A

description: A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37.


congenital myasthenic syndrome 3B

description: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has material basis in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.


congenital myasthenic syndrome 3C

description: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has material basis in compound heterozygous mutation in the CHRND gene on chromosome 2q37.


congenital myasthenic syndrome 4B

description: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.


congenital myasthenic syndrome 9

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the MUSK gene.


congenital myasthenic syndrome 11

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the RAPSN gene.


name: maturity-onset diabetes of the young type 13

description: Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KCNJ11 gene.


congenital myasthenic syndrome 18

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene.


autosomal dominant Robinow syndrome 2

description: Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene.


microcephaly and chorioretinopathy 3

description: Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene.


name: developmental and epileptic encephalopathy, 29

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AARS gene.


name: autosomal dominant nonsyndromic hearing loss 67

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the OSBPL2 gene.


name: developmental and epileptic encephalopathy, 30

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene.


name: lissencephaly 7 with cerebellar hypoplasia


immunodeficiency 39

description: Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IRF7 gene.


name: developmental and epileptic encephalopathy, 31

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DNM1 gene.


name: intellectual disability, autosomal dominant 34

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene.


name: dyskeratosis congenita, autosomal recessive 6

description: Any dyskeratosis congenita in which the cause of the disease is a mutation in the PARN gene.


name: autosomal recessive spinocerebellar ataxia 20

description: Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene.


Hogue-Janssens syndrome 1

description: An autosomal dominant intellectual developmental disorder that has material basis in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1.


name: autosomal dominant nonsyndromic hearing loss 40

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CRYM gene.


Parkinson disease 21

description: Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the DNAJC13 gene.


name: intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

description: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).


name: developmental and epileptic encephalopathy, 32

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNA2 gene.


name: mandibulofacial dysostosis with alopecia

description: A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.


name: cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome


name: multiple mitochondrial dysfunctions syndrome 4

description: Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene.


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

description: Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the PARN gene.


name: pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

description: Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the RTEL1 gene.


name: congenital stationary night blindness 1G

description: A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21.


trichothiodystrophy 2, photosensitive

description: An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the ERCC3 gene, encoding general transcription and DNA repair factor IIH helicase subunit XPB.


name: intellectual disability, autosomal dominant 38

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene.


retinitis pigmentosa 71

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene.


trichothiodystrophy 3, photosensitive

description: An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the GTF2H5 gene, encoding general transcription factor IIH subunit 5.


myoclonic dystonia 26

description: Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the KCTD17 gene.


Brugada syndrome 9

description: Any Brugada syndrome in which the cause of the disease is a mutation in the KCND3 gene.


name: isolated focal non-epidermolytic palmoplantar keratoderma


name: microcephaly 14, primary, autosomal recessive

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the SASS6 gene.


Brown syndrome

description: Brown syndrome is a rare eye disorder characterized by defects in eye movements caused by abnormalities of the superior oblique tendon sheath of the superior oblique muscle.


name: developmental and epileptic encephalopathy, 33

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the EEF1A2 gene.


spinocerebellar ataxia type 41

description: Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.


dystonia 27

description: Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene.


name: basal ganglia calcification, idiopathic, 6

description: Any bilateral striopallidodentate calcinosis in which the cause of the disease is a mutation in the XPR1 gene.


name: autoimmune interstitial lung disease-arthritis syndrome

description: A respiratory disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease.


name: hypomagnesemia, seizures, and intellectual disability


hypomyelinating leukodystrophy 10

description: Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene.


name: microphthalmia, isolated, with coloboma 10

description: Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the RBP4 gene.


name: combined oxidative phosphorylation defect type 25

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the MARS2 gene.


DOCK2 deficiency

description: An autosomal recessive combined immunodeficiency caused by mutation(s) in the DOCK2 gene, encoding dedicator of cytokinesis protein 2. It is characterized by combined immunodeficiency, primarily affecting T-cells, with more variable defects in B-cell and NK-cell function, resulting in viral and bacterial infections that may lead to death in severe cases.


Fanconi anemia complementation group T

description: Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene.


familial temporal lobe epilepsy 7

description: A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22.


name: frontotemporal dementia and/or amyotrophic lateral sclerosis 3

description: An amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35.


name: frontotemporal dementia and/or amyotrophic lateral sclerosis 4

description: An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14.


candidiasis, familial, 9

description: Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17RC gene.


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


hereditary spastic paraplegia 74

description: Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported.


BENTA disease

description: BENTA disease (B cell Expansion with N F-N:B and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/N<l) and few memory B cells. Other findings are low levels of IgM in blood and poor antibody responses to specific vaccines. BENTA disease is caused by mutations in the CARD11 gene. There is no established treatment, but some patients have their spleen removed and there is one case of a hematopoietic stem cell transplantation with good results.


Zimmermann-Laband syndrome 2

description: Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the ATP6V1B2 gene.


name: developmental and epileptic encephalopathy, 50

description: An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the CAD gene, encoding CAD protein.


name: intellectual disability, autosomal recessive 50

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the EDC3 gene.


familial temporal lobe epilepsy 8

description: A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13.


acrofacial dysostosis Cincinnati type

description: Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene.


exudative vitreoretinopathy 6

description: Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the ZNF408 gene.


retinitis pigmentosa 72

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF408 gene.


Ullrich congenital muscular dystrophy 2

description: Any Ullrich congenital muscular dystrophy in which the cause of the disease is a mutation in the COL12A1 gene.


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2

description: Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene.


primary ciliary dyskinesia 32

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH3 gene.


name: severe achondroplasia-developmental delay-acanthosis nigricans syndrome

description: A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).


infantile liver failure syndrome 2

description: Any infantile liver failure in which the cause of the disease is a mutation in the NBAS gene.


name: microcephaly 15, primary, autosomal recessive


name: epidermolysis bullosa simplex with nail dystrophy


name: congenital insensitivity to pain-hypohidrosis syndrome

description: A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34.


Joubert syndrome 23

description: Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene.


name: Charcot-Marie-Tooth disease axonal type 2V

description: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene.


hypomyelinating leukodystrophy 11

description: Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene.


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

description: Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA5 gene.


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

description: Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA6 gene.


cone-rod dystrophy 21

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the DRAM2 gene.


name: lethal congenital contracture syndrome 9

description: Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene.


name: neuropathy, hereditary motor and sensory, type 6B

description: Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene.


osteogenesis imperfecta type 17

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SPARC gene.


cataract 44

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LSS gene.


name: maturity-onset diabetes of the young type 14

description: Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the APPL1 gene.


name: autosomal recessive nonsyndromic hearing loss 104

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene.


name: Emery-Dreifuss muscular dystrophy 3, autosomal recessive

description: Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene.


achromatopsia 7

description: Any achromatopsia in which the cause of the disease is a mutation in the ATF6 gene.


name: intellectual disability, autosomal dominant 39

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MYT1L gene.


name: polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis


name: herpes simplex encephalitis, susceptibility to, 7

description: A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the IRF3 gene.


thyroid cancer, nonmedullary, 4

description: Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the FOXE1 gene.


thyroid cancer, nonmedullary, 5

description: Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the HABP2 gene.


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


name: combined oxidative phosphorylation defect type 26

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT5 gene.


progressive myoclonic epilepsy type 9

description: Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the LMNB2 gene.


name: short stature, microcephaly, and endocrine dysfunction


retinitis pigmentosa 73

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene.


name: short-rib thoracic dysplasia 14 with polydactyly

description: An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23.


name: Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome


name: dyskeratosis congenita, autosomal dominant 6

description: A dyskeratosis congenita that has material basis in an autosomal dominant mutation of ACD on chromosome 16q22.1.


Noonan syndrome 9

description: Any Noonan syndrome in which the cause of the disease is a mutation in the SOS2 gene.


retinitis pigmentosa 74

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene.


Noonan syndrome 10

description: Any Noonan syndrome in which the cause of the disease is a mutation in the LZTR1 gene.


name: spondylocostal dysostosis 6, autosomal recessive

description: Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the RIPPLY2 gene.


immunodeficiency, common variable, 12

description: Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB1 gene.


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


name: intellectual disability, autosomal dominant 40

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CHAMP1 gene.


name: spondyloepiphyseal dysplasia, Stanescu type


name: autosomal recessive complex spastic paraplegia type 9B

description: Any autosomal recessive complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene.


Adams-Oliver syndrome 6

description: Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DLL4 gene.


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


craniosynostosis 6

description: Any craniosynostosis in which the cause of the disease is a mutation in the ZIC1 gene.


cutis laxa, autosomal dominant 3

description: An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.


14q32 duplication syndrome

description: 14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed.


ring chromosome 14

description: Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.


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

description: Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the RORC gene.


name: autosomal dominant Charcot-Marie-Tooth disease type 2W

description: Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the HARS gene.


Senior-Loken syndrome 9

description: Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene.


porokeratosis 9, multiple types

description: Any porokeratosis (disease) in which the cause of the disease is a mutation in the FDPS gene.


name: progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

description: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.


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

description: Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis.


name: macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

description: A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others.


early-onset Lafora body disease

description: Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.


name: developmental and epileptic encephalopathy, 34

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 gene.


name: developmental and epileptic encephalopathy, 35


name: autosomal dominant optic atrophy plus syndrome

description: Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness.


name: PMP22-RAI1 contiguous gene duplication syndrome


Joubert syndrome 24

description: Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN2 gene.


name: spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome


name: Charcot-Marie-Tooth disease axonal type 2X

description: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene.


name: combined oxidative phosphorylation defect type 27

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene.


hereditary spastic paraplegia 75

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the MAG gene.


name: microcephaly 16, primary, autosomal recessive


description: Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.


hypomyelinating leukodystrophy 12

description: Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene.


Charcot-Marie-Tooth disease type 4K

description: SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).


name: epilepsy, idiopathic generalized, susceptibility to, 14


Charcot-Marie-Tooth disease type 2Y

description: Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the VCP gene.


name: Charcot-Marie-Tooth disease axonal type 2Z

description: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the MORC2 gene.


dehydrated hereditary stomatocytosis 2

description: Any dehydrated hereditary stomatocytosis in which the cause of the disease is a mutation in the KCNN4 gene.


name: autosomal dominant nonsyndromic hearing loss 69

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KITLG gene.


name: autosomal recessive nonsyndromic hearing loss 97

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MET gene.


name: autosomal dominant nonsyndromic hearing loss 68

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the HOMER2 gene.


name: DeSanto-Shinawi syndrome due to WAC point mutation


name: Parkinson disease 22, autosomal dominant

description: Any Parkinson disease in which the cause of the disease is a mutation in the CHCHD2 gene.


name: rhizomelic chondrodysplasia punctata type 5

description: Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene.


name: acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

description: An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13.


congenital myasthenic syndrome 19

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene.


name: familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome


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


tooth agenesis, selective, 7

description: Any tooth agenesis in which the cause of the disease is a mutation in the LRP6 gene.


primary ciliary dyskinesia 33

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the GAS8 gene.


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

description: Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.


nephrotic syndrome, type 11

description: Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene.


primary coenzyme Q10 deficiency 8

description: Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ7 gene.


name: skin creases, congenital symmetric circumferential, 2


tremor, hereditary essential, 5

description: Any essential tremor in which the cause of the disease is a mutation in the TENM4 gene.


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


name: radioulnar synostosis with amegakaryocytic thrombocytopenia 2

description: Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene.


name: intellectual disability, autosomal recessive 51

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene.


heterotaxy, visceral, 7, autosomal

description: Any visceral heterotaxy in which the cause of the disease is a mutation in the MMP21 gene.


name: spastic paraplegia-severe developmental delay-epilepsy syndrome

description: Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.


wooly hair, autosomal recessive 3

description: Any wooly hair in which the cause of the disease is a mutation in the KRT25 gene.


name: leukodystrophy and acquired microcephaly with or without dystonia;


Seckel syndrome 9

description: Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene.


name: cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2

description: Any CADASIL in which the cause of the disease is a mutation in the HTRA1 gene.


Joubert syndrome 25

description: Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene.


Joubert syndrome 26

description: Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0556 gene.


orofacial cleft 15

description: Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene.


name: cardiac anomalies - developmental delay - facial dysmorphism syndrome


name: combined oxidative phosphorylation deficiency 28

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene.


spinocerebellar ataxia type 42

description: An autosomal dominant form of spinocerebellar ataxia caused by mutation(s) in the CACNA1G gene, encoding voltage-dependent T-type calcium channel subunit alpha-1G.


name: hypotonia, infantile, with psychomotor retardation and characteristic facies 2

description: Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the UNC80 gene.


Wilms tumor 6

description: Any Wilms tumor in which the cause of the disease is a mutation in the REST gene.


name: hyperphosphatasia with intellectual disability syndrome 6

description: Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGY gene.


name: combined oxidative phosphorylation deficiency 29

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene.


name: autosomal recessive limb-girdle muscular dystrophy type 2X

description: Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.


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

description: Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.


name: microcephaly, short stature, and impaired glucose metabolism 2

description: Any microcephaly, short stature, and impaired glucose metabolism in which the cause of the disease is a mutation in the PPP1R15B gene.


IgA nephropathy, susceptibility to, 3

description: Any IgA glomerulonephritis in which the cause of the disease is a mutation in the SPRY2 gene.


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


name: autosomal recessive limb-girdle muscular dystrophy type 2W

description: Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.


name: microcephaly-congenital cataract-psoriasiform dermatitis syndrome


Meier-Gorlin syndrome 6

description: Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene.


name: autosomal recessive early-onset Parkinson disease 23

description: Any young-onset Parkinson disease in which the cause of the disease is a mutation in the VPS13C gene.


brachydactyly type A1D

description: Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene.


cataract 45

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the SIPA1L3 gene.


name: progressive scapulohumeroperoneal distal myopathy


Cowden syndrome 7

description: Any Cowden disease in which the cause of the disease is a mutation in the SEC23B gene.


Hao-Fountain syndrome

description: A rare genetic intellectual disability syndrome characterized by global developmental delay, intellectual disability, severe speech delay, behavioral abnormalities (including impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors), autism spectrum disorder and mild and variable dysmorphic facies (including deep-set eyes and a prominent nasal septum, extending below the alae nasi) due to point mutation of USP7 gene or 16p13.2 microdeletion where USP7 is completely or partially deleted. Behavioral abnormalities are more pronounced in microdeletion. Patients may also have hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, seizures and ocular anomalies (such as myopia, estropia, strabismus, and nystagmus).


name: spinal muscular atrophy with congenital bone fractures 1

description: Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the TRIP4 gene.


name: spinal muscular atrophy with congenital bone fractures 2

description: Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the ASCC1 gene.


congenital secretory sodium diarrhea 8

description: Any secretory diarrhea in which the cause of the disease is a mutation in the SLC9A3 gene.


name: DDX41-related hematologic malignancy predisposition syndrome

description: Any hereditary neoplastic syndrome in which the cause of the disease is a mutation in the DDX41 gene.


pancytopenia due to IKZF1 mutations

description: Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene.


name: cerebellar atrophy, visual impairment, and psychomotor retardation;


hypomyelinating leukodystrophy 13

description: Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene.


advanced sleep phase syndrome 3

description: Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER3 gene.


name: intellectual disability, autosomal recessive 52

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LMAN2L gene.


name: split-foot malformation-mesoaxial polydactyly syndrome


nephrotic syndrome, type 12

description: Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene.


nephrotic syndrome, type 13

description: Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene.


autosomal dominant Robinow syndrome 3

description: Any Robinow syndrome in which the cause of the disease is a mutation in the DVL3 gene.


name: mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)

description: Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the OPA1 gene.


15q14 microdeletion syndrome

description: 15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.


name: hypotonia, infantile, with psychomotor retardation and characteristic facies 3

description: A rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.


name: chromosome 11p13 deletion syndrome, distal


name: autosomal recessive spastic paraplegia type 76

description: Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.


name: immunodeficiency-centromeric instability-facial anomalies syndrome 3

description: Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the CDCA7 gene.


name: immunodeficiency-centromeric instability-facial anomalies syndrome 4

description: Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene.


platelet-type bleeding disorder 20

description: Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene.


name: progeroid and marfanoid aspect-lipodystrophy syndrome


name: intellectual disability, autosomal recessive 53


name: striatal degeneration, autosomal dominant 2

description: Any striatal degeneration, autosomal dominant in which the cause of the disease is a mutation in the PDE10A gene.


name: Charcot-Marie-Tooth disease axonal type 2CC

description: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NEFH gene.


Coffin-Siris syndrome 5

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene.


name: chorea, childhood-onset, with psychomotor retardation


name: agammaglobulinemia 8, autosomal dominant

description: Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene.


description: Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the GTF2E2 gene.


name: intellectual disability, autosomal dominant 41

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the TBL1XR1 gene.


premature ovarian failure 11

description: Any primary ovarian failure in which the cause of the disease is a mutation in the ERCC6 gene.


premature ovarian failure 12

description: Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene.