Cornelia de Lange syndrome 4

description: Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the RAD21 gene.


name: mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

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

description: A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.


neuronal ceroid lipofuscinosis 11

description: Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the GRN gene.


Brown-Vialetto-van Laere syndrome 2

description: Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A2 gene.


description: Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.


name: TMEM165-congenital disorder of glycosylation

description: TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).


Seckel syndrome 6

description: Any Seckel syndrome in which the cause of the disease is a mutation in the CEP63 gene.


prostate cancer, hereditary, 2

description: Any familial prostate cancer in which the cause of the disease is a mutation in the ELAC2 gene.


IMAGe syndrome

description: IMAGe syndrome is characterized by the association of intrauterine growth retardation, metaphyseal dysplasia (and short limbs), adrenal hypoplasia congenita, and genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.


glucocorticoid deficiency 4

description: Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the NNT gene.


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

description: Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene.


name: basal cell carcinoma, susceptibility to, 7

description: Any skin basal cell carcinoma in which the cause of the disease is a mutation in the TP53 gene.


name: mitochondrial pyruvate carrier deficiency

description: An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation.


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

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


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


name: facial paresis, hereditary congenital, 3

description: Any congenital hereditary facial paralysis-variable hearing loss syndrome in which the cause of the disease is a mutation in the HOXB1 gene.


name: pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome

description: A life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.


name: hyperphosphatasia with intellectual disability syndrome 2

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


congenital myasthenic syndrome 13

description: Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene.


name: neuronopathy, distal hereditary motor, type 5B

description: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the REEP1 gene.


Malan overgrowth syndrome

description: A rare multisystemic genetic disorder characterized by a characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness.


name: cerebellar dysfunction with variable cognitive and behavioral abnormalities

description: Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).


tremor, hereditary essential, 4

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


name: short stature-optic atrophy-Pelger-HuC+t anomaly syndrome


name: congenital myopathy with internal nuclei and atypical cores

description: Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.


amyotrophic lateral sclerosis type 18

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the PFN1 gene.


C3 glomerulonephritis

description: Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease.


name: multiple sclerosis, susceptibility to, 5

description: Any multiple sclerosis, susceptibility to in which the cause of the disease is a mutation in the TNFRSF1A gene.


name: short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

description: Extremely rare primordial dwarfism characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis, which is caused by biallelic mutations in the POC1A gene.


Adams-Oliver syndrome 3

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


Joubert syndrome 18

description: Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN3 gene.


Loeys-Dietz syndrome 4

description: Any Loeys-Dietz syndrome in which the cause of the disease is a mutation in the TGFB2 gene.


karyomegalic interstitial nephritis

description: Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene.


Weill-Marchesani syndrome 3

description: Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene.


alternating hemiplegia of childhood 2

description: Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene.


spermatogenic failure 10

description: Any azoospermia in which the cause of the disease is a mutation in the SEPT12 gene.


aortic valve disease 2

description: Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene.


name: nystagmus 7, congenital, autosomal dominant


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

description: Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene.


name: autosomal recessive spinocerebellar ataxia 13

description: Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.


name: amelogenesis imperfecta hypomaturation type 2A4

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


bilateral generalized polymicrogyria

description: Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person.


name: thyrotoxic periodic paralysis, susceptibility to, 3


name: hypogonadotropic hypogonadism 8 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1R gene.


name: hypogonadotropic hypogonadism 9 with or without anosmia

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


name: hypogonadotropic hypogonadism 10 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TAC3 gene.


name: hypogonadotropic hypogonadism 11 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TACR3 gene.


name: hypogonadotropic hypogonadism 12 with or without anosmia

description: A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21.


name: hypogonadotropic hypogonadism 13 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene.


nephronophthisis 14

description: Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene.


nephronophthisis 15

description: Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene.


name: epilepsy, idiopathic generalized, susceptibility to, 12


name: herpes simplex encephalitis, susceptibility to, 3

description: A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the TRAF3 gene.


name: herpes simplex encephalitis, susceptibility to, 4

description: A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the TICAM1 gene.


Seckel syndrome 7

description: Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.


name: microcephaly 9, primary, autosomal recessive

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene.


osteogenesis imperfecta type 13

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the BMP1 gene.


name: methylmalonic acidemia with homocystinuria, type cblJ

description: An autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the ABCD4 gene, encoding lysosomal cobalamin transporter ABCD4.


name: hypogonadotropic hypogonadism 14 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the WDR11 gene.


name: peroxisome biogenesis disorder 3A (Zellweger)

description: An autosomal recessive condition caused by mutation(s) in the PEX12 gene, encoding peroxisome assembly protein 12. Peroxisome biogenesis disorder 3A manifests phenotypically as Zellweger syndrome.


dystonia 23

description: Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene.


name: autosomal recessive nonsyndromic hearing loss 98

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


name: peroxisome biogenesis disorder 4A (Zellweger)

description: An autosomal recessive condition caused by mutation(s) in the PEX6 gene, peroxisome assembly factor 2. Peroxisome biogenesis disorder 4A manifests phenotypically as Zellweger syndrome.


peroxisome biogenesis disorder 4B

description: An autosomal recessive condition caused by mutation(s) in the PEX6 gene, peroxisome assembly factor 2, Peroxisome biogenesis disorder 4B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


name: peroxisome biogenesis disorder 5A (Zellweger)

description: An autosomal recessive condition caused by mutation(s) in the PEX2 gene, encoding peroxisome biogenesis factor 2. Peroxisome biogenesis disorder 5A manifests phenotypically as Zellweger syndrome.


peroxisome biogenesis disorder 5B

description: An autosomal recessive condition caused by mutation(s) in the PEX2 gene, encoding peroxisome biogenesis factor 2. Peroxisome biogenesis disorder 5B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


name: combined immunodeficiency due to STK4 deficiency

description: A rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).


Usher syndrome type 1J

description: Any Usher syndrome in which the cause of the disease is a mutation in the CIB2 gene.


name: peroxisome biogenesis disorder 6A (Zellweger)

description: An autosomal recessive condition caused by mutation(s) in the PEX10 gene, encoding peroxisome biogenesis factor 10. Peroxisome biogenesis disorder 6A manifests phenotypically as Zellweger syndrome.


peroxisome biogenesis disorder 6B

description: An autosomal recessive condition caused by mutation(s) in the PEX10 gene, encoding peroxisome biogenesis factor 10. Peroxisome biogenesis disorder 6B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


name: peroxisome biogenesis disorder 7A (Zellweger)

description: An autosomal recessive condition caused by mutation(s) in the PEX26 gene, encoding peroxisome assembly protein 26. Peroxisome biogenesis disorder 7A manifests phenotypically as Zellweger syndrome.


peroxisome biogenesis disorder 7B

description: An autosomal recessive condition caused by mutation(s) in the PEX26 gene, encoding peroxisome assembly protein 26. Peroxisome biogenesis disorder 7B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


primary ciliary dyskinesia 18

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF5 gene.


name: metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

description: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.


name: peroxisome biogenesis disorder 8A (Zellweger)

description: An autosomal recessive condition caused by mutation(s) in the PEX16 gene, encoding peroxisomal membrane protein PEX16. Peroxisome biogenesis disorder 8A manifests phenotypically as Zellweger syndrome.


peroxisome biogenesis disorder 8B

description: An autosomal recessive condition caused by mutation(s) in the PEX16 gene, encoding peroxisomal membrane protein PEX16. Peroxisome biogenesis disorder 8B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


name: autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation


name: hypogonadotropic hypogonadism 15 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the HS6ST1 gene.


name: neuronopathy, distal hereditary motor, autosomal recessive 5

description: Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.


name: peroxisome biogenesis disorder 10A (Zellweger)


name: peroxisome biogenesis disorder 11A (Zellweger)


name: peroxisome biogenesis disorder 12A (Zellweger)


name: peroxisome biogenesis disorder 13A (Zellweger)


immunodeficiency 28

description: Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene.


name: Mendelian susceptibility to mycobacterial diseases due to complete IL12B 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 IL12B gene.


name: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 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 IL12RB1 gene.


name: Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

description: A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections.


name: Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

description: A rare genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guerin (BCG).


Charcot-Marie-Tooth disease type 4F

description: Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.


name: sinoatrial node dysfunction and deafness

description: Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.


name: hypogonadotropic hypogonadism 16 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SEMA3A gene.


hereditary spastic paraplegia 53

description: A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.


name: autosomal recessive nonsyndromic hearing loss 93

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CABP2 gene.


Diamond-Blackfan anemia 11

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL26 gene.


name: lethal congenital contracture syndrome 4

description: Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the MYBPC1 gene.


name: catecholaminergic polymorphic ventricular tachycardia 4

description: Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CALM1 gene.


name: PGM1-congenital disorder of glycosylation


name: combined oxidative phosphorylation defect type 11

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene.


name: branched-chain keto acid dehydrogenase kinase deficiency

description: A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.


name: leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

description: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.


Perrault syndrome 2

description: Any Perrault syndrome in which the cause of the disease is a mutation in the HARS2 gene.


ectodermal dysplasia 7, hair/nail type

description: Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT74 gene.


ectodermal dysplasia 9, hair/nail type

description: Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the HOXC13 gene.


name: combined oxidative phosphorylation defect type 13

description: Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.


name: autosomal recessive nonsyndromic hearing loss 70

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PNPT1 gene.


primary ciliary dyskinesia 19

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the LRRC6 gene.


name: palmoplantar keratoderma, punctate type ib


myoclonus, familial

description: A rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.


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


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


name: autosomal recessive nonsyndromic hearing loss 84B

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


name: autosomal recessive nonsyndromic hearing loss 18B

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


name: combined oxidative phosphorylation defect type 14

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene.


name: combined oxidative phosphorylation defect type 15

description: Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.


name: congenital heart defects, multiple types, 3


name: developmental and epileptic encephalopathy, 14

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene.


pontocerebellar hypoplasia type 8

description: A novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.


name: obesity due to congenital leptin deficiency

description: Congenital leptin deficiency is a form of monogenic obesity characterized by severe early-onset obesity and marked hyperphagia.


name: obesity due to leptin receptor gene deficiency

description: Deficiency or dysfunction of the leptin receptor associated with loss-of-function mutation(s) in the LEPR gene.


pontocerebellar hypoplasia type 7

description: Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.


Joubert syndrome 20

description: Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM231 gene.


name: cholestasis, intrahepatic, of pregnancy, 3


focal facial dermal dysplasia type II

description: Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities.


focal facial dermal dysplasia type IV

description: Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.


MEGF8-related Carpenter syndrome

description: Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene.


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

description: A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.


name: congenital heart defects, multiple types, 2

description: Any congenital heart malformation in which the cause of the disease is a mutation in the TAB2 gene.


Usher syndrome type 1K

description: An Usher syndrome type 1 that has material basis in variation in the chromosome region 10p11.21-q21.1.


name: autosomal dominant nocturnal frontal lobe epilepsy 5

description: Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene.


name: developmental and epileptic encephalopathy, 15


name: basal ganglia calcification, idiopathic, 4


description: Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation.


Schuurs-Hoeijmakers syndrome

description: Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.


Aicardi-Goutieres syndrome 6

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


phosphohydroxylysinuria

description: An elevated concentration of phosphohydroxylysine in the urine.


name: autosomal recessive congenital ichthyosis 7

description: An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has material basis in variation in the chromosome region 12p11.2-q13.1.


name: autosomal recessive congenital ichthyosis 9

description: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CERS3 gene.


name: autosomal recessive congenital ichthyosis 10

description: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene.


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

description: Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.


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


hereditary spastic paraplegia 56

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene.


hereditary spastic paraplegia 49

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the TECPR2 gene.


name: intellectual developmental disorder with autism and macrocephaly


hereditary spastic paraplegia 54

description: A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.


dystonia 24

description: Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene.


name: familial episodic pain syndrome with predominantly upper body involvement


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

description: Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the RXYLT1 gene.


name: congenital muscular dystrophy with intellectual disability and severe epilepsy


hereditary spastic paraplegia 43

description: Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.


name: lower motor neuron syndrome with late-adult onset


name: congenital stationary night blindness 1F

description: Any congenital stationary night blindness in which the cause of the disease is a mutation in the LRIT3 gene.


hypotrichosis 11

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


distal arthrogryposis type 5D

description: Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.


osteogenesis imperfecta type 14

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B gene.


primary ciliary dyskinesia 20

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC114 gene.


name: microcephalic primordial dwarfism, Alazami type

description: Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.


brachydactyly type A1C

description: Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene.


dystonia 25

description: Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia, characterized by cervical, laryngeal and hand-forearm dystonia.


name: severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

description: An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3.


name: severe intellectual disability-progressive spastic diplegia syndrome

description: Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person.


Alzheimer disease 17

description: An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2.


spermatogenic failure 11

description: Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene.


name: colorectal cancer, susceptibility to, 12

description: Any colorectal cancer in which the cause of the disease is a mutation in the POLE gene.


mitochondrial DNA depletion syndrome 11

description: Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.


autosomal recessive osteopetrosis 8

description: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene.


left ventricular noncompaction 7

description: Any left ventricular noncompaction in which the cause of the disease is a mutation in the MIB1 gene.


name: microcephalic primordial dwarfism due to ZNF335 deficiency

description: Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.


name: dysmorphism-conductive hearing loss-heart defect syndrome

description: A syndrome characterized by distinctive facial features, cleft palate, conductive hearing loss, and mild developmental delay. The craniofacial dysmorphism included low frontal hairline, ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, and low-set, posteriorly rotated small ears.


Cowden syndrome 3

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


Cowden syndrome 4

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


Cowden syndrome 5

description: Any Cowden disease in which the cause of the disease is a mutation in the PIK3CA gene.


Cowden syndrome 6

description: Any Cowden disease in which the cause of the disease is a mutation in the AKT1 gene.


urofacial syndrome 2

description: Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene.


isolated microphthalmia 8

description: Any isolated microphthalmia in which the cause of the disease is a mutation in the ALDH1A3 gene.


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

description: Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COX15 gene.


congenital myasthenic syndrome 8

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


lymphoproliferative syndrome 2

description: Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene.


name: melanoma, cutaneous malignant, susceptibility to, 9


name: facial dysmorphism-immunodeficiency-livedo-short stature syndrome

description: A rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyzes show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.


name: microphthalmia, isolated, with coloboma 9

description: Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the TENM3 gene.


name: progressive retinal dystrophy due to retinol transport defect


Steel syndrome

description: A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described.


name: mitochondrial DNA deletion syndrome with progressive myopathy


name: mitochondrial complex III deficiency nuclear type 2

description: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene.


name: mitochondrial complex III deficiency nuclear type 3

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


name: mitochondrial complex III deficiency nuclear type 4

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


name: mitochondrial complex III deficiency nuclear type 5

description: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRC2 gene.


name: short ulna-dysmorphism-hypotonia-intellectual disability syndrome


cone-rod dystrophy 17

description: A cone-rod dystrophy that has material basis in variation in the chromosome region 10q26.


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


oculocutaneous albinism type 7

description: Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination.


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

description: Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene.


D,L-2-hydroxyglutaric aciduria

description: D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites.


dilated cardiomyopathy 1II

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


name: Charcot-Marie-Tooth disease dominant intermediate F

description: Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.


cataract 39 multiple types

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


name: dyskeratosis congenita, autosomal recessive 5

description: A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33.


name: cobblestone lissencephaly without muscular or ocular involvement

description: Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.


platelet-type bleeding disorder 15

description: Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene.


name: restless legs syndrome, susceptibility to, 8


name: severe combined immunodeficiency due to CARD11 deficiency

description: Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections.


name: cryptosporidiosis-chronic cholangitis-liver disease syndrome


name: agammaglobulinemia 7, autosomal recessive

description: Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene.


ataxia with oculomotor apraxia type 3

description: An autosomal recessive cerebellar ataxia caused by mutation(s) in the PIK3R5 gene, encoding phosphoinositide 3-kinase regulatory subunit 5. It is characterized by oculomotor apraxia and distal muscle atrophy and weakness, predominantly affecting the lower limbs.


name: hydrocephalus, nonsyndromic, autosomal recessive 2

description: Any congenital hydrocephalus in which the cause of the disease is a mutation in the MPDZ gene.


osteogenesis imperfecta type 15

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene.


Smith-McCort dysplasia 2

description: Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene.


advanced sleep phase syndrome 2

description: Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the CSNK1D gene.


name: corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome


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

description: Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A gene.


schizophrenia 18

description: A schizophrenia that has material basis in a mutation of SLC1A1 on chromosome 9p24.2.


retinitis pigmentosa 66

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the RBP3 gene.


name: severe congenital hypochromic anemia with ringed sideroblasts

description: STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels.


dilated cardiomyopathy 1JJ

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the LAMA4 gene.


name: microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome

description: This syndrome is characterized by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes).


congenital short bowel syndrome

description: Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.


name: CIDEC-related familial partial lipodystrophy


nephrotic syndrome, type 8

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


dilated cardiomyopathy 1KK

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


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

description: Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene.


name: hypogonadotropic hypogonadism 17 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SPRY4 gene.


name: hypogonadotropic hypogonadism 18 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the IL17RD gene.


name: cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

description: Any dysequilibrium syndrome in which the cause of the disease is a mutation in the ATP8A2 gene.


name: hypogonadotropic hypogonadism 19 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the DUSP6 gene.


name: hypogonadotropic hypogonadism 20 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF17 gene.


name: hypogonadotropic hypogonadism 21 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FLRT3 gene.


Fanconi anemia complementation group Q

description: Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene.


cataract 15 multiple types

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


cataract 19 multiple types

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LIM2 gene.


cardiofaciocutaneous syndrome 2

description: Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the KRAS gene.


cardiofaciocutaneous syndrome 3

description: Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K1 gene.


cardiofaciocutaneous syndrome 4

description: Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K2 gene.


name: hypomyelination with brain stem and spinal cord involvement and leg spasticity


name: complex cortical dysplasia with other brain malformations 2

description: Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene.


Charcot-Marie-Tooth disease type 4B3

description: Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).


description: Severe congenital neutropenia inherited in an autosomal recessive pattern and caused by mutation(s) in the VPS45 gene, encoding vacuolar protein sorting-associated protein 45. It is characterized by neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis.


description: An autosomal recessive disorder caused by mutation(s) in the ADAT3 gene, encoding probable inactive tRNA-specific adenosine deaminase-like protein 3. It is characterized by a neurodevelopmental disorder with brain abnormalities, poor growth, and abnormal facies.


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


name: autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

description: An autosomal dominant type of spinal muscular atrophy caused by mutation(s) in the BICD2 gene, encoding protein bicaudal D homolog 2.


myofibromatosis, infantile, 2

description: Any myofibromatosis in which the cause of the disease is a mutation in the NOTCH3 gene.


primary ciliary dyskinesia 21

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DRC1 gene.


Adams-Oliver syndrome 4

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


symphalangism, proximal, 1B

description: Any proximal symphalangism in which the cause of the disease is a mutation in the GDF5 gene.


Perrault syndrome 4

description: Any Perrault syndrome in which the cause of the disease is a mutation in the LARS2 gene.


oculocutaneous albinism type 5

description: Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered.


TCF12-related craniosynostosis

description: Any syndromic craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene.


Dowling-Degos disease 2

description: Any Dowling-Degos disease in which the cause of the disease is a mutation in the POFUT1 gene.


name: hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome


name: multiple mitochondrial dysfunctions syndrome 3

description: Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene.


name: developmental and epileptic encephalopathy, 16


pulmonary hypertension, primary, 2

description: Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene.


pulmonary hypertension, primary, 3

description: Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene.


pulmonary hypertension, primary, 4

description: Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene.


precocious puberty, central, 2

description: Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene.


nemaline myopathy 8

description: An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles.


name: Ehlers-Danlos syndrome, spondylodysplastic type, 2

description: Any Ehlers-Danlos syndrome, spondylodysplastic type in which the cause of the disease is a mutation in the B3GALT6 gene.


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


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


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.


Noonan syndrome 8

description: Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene.


name: autosomal recessive limb-girdle muscular dystrophy type R18

description: A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.


Leber congenital amaurosis 17

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GDF6 gene.


autosomal dominant hypocalcemia 2

description: An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.


neuronal ceroid lipofuscinosis 13

description: Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CTSF gene.


estrogen resistance syndrome

description: Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present.


name: fetal akinesia-cerebral and retinal hemorrhage syndrome

description: Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.


name: developmental and epileptic encephalopathy 94

description: An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability.


name: pulmonary hypertension, neonatal, susceptibility to


left ventricular noncompaction 8

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PRDM16 gene.


cone-rod dystrophy 18

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAB28 gene.


name: Charcot-Marie-Tooth disease recessive intermediate C

description: Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy.


atrial fibrillation, familial, 13

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN1B gene.


atrial fibrillation, familial, 14

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN2B gene.


nephronophthisis 16

description: Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene.


name: autosomal recessive spinocerebellar ataxia 14

description: Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).


description: A non-severe combined immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR- gamma|delta, but little or no TCR-alpha|beta.


name: infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

description: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.


left ventricular noncompaction 10

description: Any left ventricular noncompaction in which the cause of the disease is a mutation in the MYBPC3 gene.


Meckel syndrome, type 11

description: Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene.


name: multiple congenital anomalies-hypotonia-seizures syndrome 3

description: A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.


paroxysmal nocturnal hemoglobinuria 2

description: Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene.


epilepsy, familial adult myoclonic, 5

description: Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene.


name: severe combined immunodeficiency due to CORO1A deficiency


name: dyschromatosis universalis hereditaria 3

description: Any dyschromatosis universalis hereditaria in which the cause of the disease is a mutation in the ABCB6 gene.


name: complex cortical dysplasia with other brain malformations 3

description: Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene.


name: complex cortical dysplasia with other brain malformations 4

description: Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene.


spermatogenic failure 12

description: Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene.


name: microcephaly 11, primary, autosomal recessive

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene.


renal-hepatic-pancreatic dysplasia 2

description: Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene.


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

description: An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy.


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

description: A rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip).


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

description: Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA2B1 gene.


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

description: Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA1 gene.


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


amyotrophic lateral sclerosis type 20

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the HNRNPA1 gene.


name: autosomal recessive nonsyndromic hearing loss 88

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene.


specific language impairment 5

description: A communication disorder that involves the processing of linguistic information.


chromosome 3q13.31 deletion syndrome

description: 3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.


name: retinitis pigmentosa with or without situs inversus

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL2BP gene.


aortic aneurysm, familial thoracic 8

description: Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene.


age related macular degeneration 13

description: An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the CFI gene.


name: combined oxidative phosphorylation defect type 17

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene.


name: catecholaminergic polymorphic ventricular tachycardia 5

description: Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TRDN gene.


primary ciliary dyskinesia 22

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ZMYND10 gene.


primary ciliary dyskinesia 23

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene.


name: mitochondrial complex III deficiency nuclear type 6

description: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the CYC1 gene.


name: combined immunodeficiency due to MALT1 deficiency

description: Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.


mitochondrial DNA depletion syndrome 13

description: Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene.


name: developmental and epileptic encephalopathy, 17

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene.


name: aldosterone-producing adenoma with seizures and neurological abnormalities

description: An autosomal dominant condition caused by mutation(s) in the CACNA1D gene, encoding voltage-dependent L-type calcium channel subunit alpha-1D. It is characterized by primary hyperaldosteronism, seizures, and neurologic defects.


name: developmental and epileptic encephalopathy, 18


primary ciliary dyskinesia 24

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH1 gene.


primary ciliary dyskinesia 25

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF4 gene.


name: basal ganglia calcification, idiopathic, 5


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


name: severe early-onset pulmonary alveolar proteinosis due to MARS deficiency


age related macular degeneration 14

description: An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21.


Charcot-Marie-Tooth disease type 2R

description: Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 gene.


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

description: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.


name: intellectual disability-hypotonia-spasticity-sleep disorder syndrome


primary ciliary dyskinesia 26

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP298 gene.


name: sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

description: A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23.


name: intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome


name: short-rib thoracic dysplasia 8 with or without polydactyly

description: An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.


primary ciliary dyskinesia 27

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC65 gene.


primary ciliary dyskinesia 28

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the SPAG1 gene.


name: telangiectasia, hereditary hemorrhagic, type 5

description: Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene.


name: severe dermatitis-multiple allergies-metabolic wasting syndrome


name: alacrima, achalasia, and intellectual disability syndrome


name: myopathy due to myoadenylate deaminase deficiency

description: An autosomal recessive condition caused by mutation(s) in the AMPD1 gene, encoding AMP deaminase 1. The condition is characterized by exercise-induced muscle pain and/or fatigue, which may be associated with rhabdomyolysis and/or increased concentrations of creatinine kinase.


triosephosphate isomerase deficiency

description: Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.


immunodeficiency 14

description: An autosomal dominant condition caused by mutation(s) caused by mutation(s) in the PIK3CD gene, encoding phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform. It is characterized by defects in T-cells and B-cells and recurrent sinopulmonary infections in childhood.


amyotrophic lateral sclerosis type 19

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ERBB4 gene.


name: developmental delay with autism spectrum disorder and gait instability

description: Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.


hemochromatosis type 5

description: Any hereditary hemochromatosis in which the cause of the disease is a mutation in the FTH1 gene.


idiopathic CD4 lymphocytopenia

description: A rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.


name: hypopigmentation-punctate palmoplantar keratoderma syndrome


corneal dystrophy, Fuchs endothelial, 8

description: Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the AGBL1 gene.


microphthalmia, syndromic 12

description: Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome.


candidiasis, familial, 8

description: Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the TRAF3IP2 gene.


juvenile onset Parkinson disease 19A

description: Any Parkinson disease in which the cause of the disease is a mutation in the DNAJC6 gene.


craniosynostosis 5, susceptibility to

description: Any craniosynostosis in which the cause of the disease is a mutation in the ALX4 gene.


early-onset Parkinson disease 20

description: Any Parkinson disease in which the cause of the disease is a mutation in the SYNJ1 gene.


reticulate acropigmentation of Kitamura

description: A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present.


name: Ehlers-Danlos syndrome, musculocontractural type 2

description: Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene.


name: autosomal recessive nonsyndromic hearing loss 76

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene.


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


name: testicular anomalies with or without congenital heart disease


periventricular nodular heterotopia 6

description: Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the ERMARD gene.


name: leukemia, acute lymphoblastic, susceptibility to, 3

description: Any precursor B-cell acute lymphoblastic leukemia in which the cause of the disease is a mutation in the PAX5 gene.


van Maldergem syndrome 2

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


name: hereditary sensory and autonomic neuropathy type 7

description: Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called ' autosomal dominant.'


Diamond-Blackfan anemia 12

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene.


episodic pain syndrome, familial, 2

description: Any familial episodic pain syndrome in which the cause of the disease is a mutation in the SCN10A gene.


name: familial episodic pain syndrome with predominantly lower limb involvement

description: A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age.


name: autism spectrum disorder - epilepsy - arthrogryposis syndrome

description: SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).


multiple fibroadenoma of the breast

description: Mammary polyadenomatosis is characterized by the presence in both breasts of multiple voluminous fibroadenomas with heterogeneous echo patterns.


familial hyperprolactinemia

description: Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.


familial hypobetalipoproteinemia 1

description: Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the APOB gene.


otofaciocervical syndrome 2

description: Any otofaciocervical syndrome in which the cause of the disease is a mutation in the PAX1 gene.


retinitis pigmentosa 67

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the NEK2 gene.


nephrotic syndrome, type 9

description: Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene.


name: congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome

description: An autosomal recessive condition caused by mutation(s) in the ASNS gene, encoding asparagine synthetase. It is characterized by microcephaly, severely delayed psychomotor development, progressive encephalopathy, seizures, and cortical atrophy.


name: neuronopathy, distal hereditary motor, type 2D

description: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the FBXO38 gene.


immunodeficiency, common variable, 10

description: Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene.


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

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene.


Rienhoff syndrome

description: Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection.


Alzheimer disease 18

description: Any Alzheimer disease in which the cause of the disease is a mutation in the ADAM10 gene.


age related macular degeneration 15

description: An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the C9 gene.


name: severe combined immunodeficiency due to IKK2 deficiency

description: Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.


name: combined immunodeficiency due to OX40 deficiency

description: Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.


name: combined oxidative phosphorylation deficiency 19

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene.


name: STT3A-congenital disorder of glycosylation

description: STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).


name: STT3B-congenital disorder of glycosylation

description: STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1).


name: palmoplantar keratoderma, Nagashima type

description: Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda.


name: microcephaly-thin corpus callosum-intellectual disability syndrome

description: Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated.


Fanconi renotubular syndrome 3

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


name: combined immunodeficiency due to CD3gamma deficiency

description: Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations.


immunodeficiency 18

description: Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18.


immunodeficiency 19

description: Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD3D gene.


hereditary spastic paraplegia 72

description: Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene.


name: autosomal dominant nonsyndromic hearing loss 56

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


name: short-rib thoracic dysplasia 10 with or without polydactyly

description: An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.


name: congenital dyserythropoietic anemia type type 1B


neuropathy, hereditary sensory, type 1F

description: Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene.


name: short-rib thoracic dysplasia 11 with or without polydactyly

description: An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34.


Joubert syndrome 21

description: Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene.


description: Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally.


name: neurodegeneration with brain iron accumulation 6

description: COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.


name: autosomal dominant nonsyndromic hearing loss 54

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.


name: leukoencephalopathy with mild cerebellar ataxia and white matter edema

description: An autosomal recessive condition caused by mutation(s) in the CLCN2 gene, encoding chloride channel protein 2. It is characterized by variable clinical features including mild cerebellar ataxia, chorioretinopathy, visual field defects, and headaches. A characteristic pattern of white matter abnormalities is evident on MRI.


name: autosomal dominant nonsyndromic hearing loss 58

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p21-p12.


chromosome 15q11.2 deletion syndrome

description: 15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia).


hereditary spastic paraplegia 57

description: An extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.


Warburg micro syndrome 4

description: Any Warburg micro syndrome in which the cause of the disease is a mutation in the TBC1D20 gene.


Joubert syndrome 22

description: Any Joubert syndrome in which the cause of the disease is a mutation in the PDE6D gene.


chromosome 5q12 deletion syndrome

description: PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.


name: proximal myopathy with extrapyramidal signs

description: Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.


hereditary spastic paraplegia 62

description: Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some.


hereditary spastic paraplegia 64

description: An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.


hereditary spastic paraplegia 61

description: A rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.


hereditary spastic paraplegia 63

description: An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2.


vasculitis due to ADA2 deficiency

description: Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.


Dowling-Degos disease 4

description: Any Dowling-Degos disease in which the cause of the disease is a mutation in the POGLUT1 gene.


familial temporal lobe epilepsy 6

description: A temporal lobe epilepsy that has material basis in variation in the chromosome region 3q25-q26.


name: hereditary sclerosing poikiloderma with tendon and pulmonary involvement

description: Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.


name: autosomal recessive spinocerebellar ataxia 15

description: Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene.


name: autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity