cystathioninuria

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

description: Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases.


name: microcephaly 22, primary, autosomal recessive


retinitis pigmentosa 57

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6G gene.


autosomal recessive Alport syndrome

description: Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed.


autosomal dominant Alport syndrome

description: Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell.


complement component 2 deficiency

description: Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion.


name: autosomal dominant Ehlers-Danlos syndrome, vascular type

description: The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported.


systemic lupus erythematosus

description: An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific.


complement component 4b deficiency

description: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4B gene.


Ehlers-Danlos syndrome, classic type, 1

description: Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene.


complement component 9 deficiency

description: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C9 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.


complement component 7 deficiency

description: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C7 gene.


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.


Leber hereditary optic neuropathy

description: Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.


name: mitochondrial complex IV deficiency, nuclear type 1


myoglobinuria, recurrent

description: An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection (febrile illness). Hypertonia, muscle stiffness and muscle pain, impaired kidney function and elevated levels of serum creatine kinase are common clinical features. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. Recently, mutations in the LPIN1 gene (chromosome 2p21) have been reported to have a causative role in three patients with recurrent episodes of myoglobinuria, originating from consanguineous families. The disorder may occur sporadically, or be inherited in either a recessive or dominant manner.


cerebrotendinous xanthomatosis

description: Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.


glaucoma 3A

description: An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1.


glaucoma 1, open angle, A

description: Any juvenile glaucoma in which the cause of the disease is a mutation in the MYOC gene.


cataract 10 multiple types

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA1 gene.


cataract 3 multiple types

description: Any cataract (disease) in which the cause of the disease is a mutation in the CRYBB2 gene.


Imerslund-Grasbeck syndrome type 1

description: An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances.


name: glycogen storage disease due to muscle beta-enolase deficiency

description: Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.


cataract 1 multiple types

description: Any cataract (disease) in which the cause of the disease is a mutation in the GJA8 gene.


Clouston syndrome

description: Clouston syndrome (or hidrotic ectodermal dysplasia) is characterized by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.


name: autosomal recessive nonsyndromic hearing loss 1B

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene.


name: autosomal dominant nonsyndromic hearing loss 3B

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene.


name: Charcot-Marie-Tooth disease X-linked dominant 1

description: Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females.


Charcot-Marie-Tooth disease type 3

description: A demyelinating peripheral neuropathy characterized by delayed motor development.


name: erythrokeratodermia variabilis et progressiva 1


name: autosomal dominant nonsyndromic hearing loss 2B

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene.


WHIM syndrome 1

description: A congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).


methemoglobinemia type 4

description: Any methemoglobinemia in which the cause of the disease is a mutation in the CYB5A gene.


histiocytoid cardiomyopathy

description: Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterized by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.


osteogenesis imperfecta type 7

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


Cold-induced sweating syndrome 1

description: Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.


cataract 9 multiple types

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


name: Emery-Dreifuss muscular dystrophy 1, X-linked

description: Emery-Dreifuss muscular dystrophy inherited in an X-linked recessive pattern and caused by mutations in the EMD gene, encoding emerin.


name: surfactant metabolism dysfunction, pulmonary, 4


hereditary neutrophilia

description: A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34.


name: autosomal recessive severe congenital neutropenia due to CSF3R deficiency

description: Severe congenital neutropenia inherited in an autosomal recessive pattern and caused by mutation(s) in the CSF3R gene, encoding granulocyte colony-stimulating factor receptor. It is characterized by the onset of recurrent infections in infancy or early childhood and peripheral neutropenia, despite normal granulocyte maturation, that is unresponsive to treatment with G-CSF.


Seckel syndrome 2

description: Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene.


Jawad syndrome

description: Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly with facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.


patterned macular dystrophy 2

description: Any patterned macular dystrophy in which the cause of the disease is a mutation in the CTNNA1 gene.


pseudohypoaldosteronism type 2E

description: Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene.


name: erythrokeratodermia variabilis et progressiva 2


name: granulomatous disease, chronic, X-linked

description: An X-linked recessive form of chronic granulomatous disease caused by mutation(s) in the CYBB gene, encoding cytochrome b-245 beta chain.


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

description: Any X-linked Mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene.


name: autosomal dominant nonsyndromic hearing loss 4B

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CEACAM16 gene.


nephronophthisis 15

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


pyruvate dehydrogenase E3 deficiency

description: Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.


retinitis pigmentosa 45

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene.


inherited obesity

description: Abnormally low body weight.


name: cortical dysplasia-focal epilepsy syndrome

description: An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder.


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

description: Any developmental delay with short stature, dysmorphic facial features, and sparse hair in which the cause of the disease is a mutation in the DPH1 gene.


name: type II complement component 8 deficiency

description: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B gene.


complement component 3 deficiency

description: A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease.


age related macular degeneration 9

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the C3 gene.


name: atypical hemolytic-uremic syndrome with C3 anomaly


epiphyseal dysplasia, multiple, 2

description: Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A2 gene.


name: intervertebral disk degenerative disorder

description: Any disease of a degenerative nature that affects the intervertebral disk.


Stickler syndrome, type 5

description: Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene.


name: Ullrich congenital muscular dystrophy 1A


dystonia 27

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


complement component 6 deficiency

description: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene.


name: congenital disorder of glycosylation type 1E

description: The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.


name: congenital muscular dystrophy with intellectual disability and severe epilepsy


name: DPM3-congenital disorder of glycosylation

description: DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy.


age related macular degeneration 12

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the CX3CR1 gene.


name: Charcot-Marie-Tooth disease recessive intermediate D

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


oculodentodigital dysplasia

description: Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.


name: oculodentodigital dysplasia, autosomal recessive

description: Autosomal recessive form of oculodentodigital dysplasia.


syndactyly type 3

description: Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.


hypoplastic left heart syndrome 1

description: Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the GJA1 gene.


Hallermann-Streiff syndrome

description: Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.


name: craniometaphyseal dysplasia, autosomal recessive

description: Autosomal recessive form of craniometaphyseal dysplasia.


name: erythrokeratodermia variabilis et progressiva 3


name: autosomal dominant palmoplantar keratoderma and congenital alopecia

description: Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.


atrial standstill 1

description: Any atrial standstill in which the cause of the disease is a mutation in the GJA5 gene.


atrial fibrillation, familial, 11

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene.


name: autosomal recessive nonsyndromic hearing loss 1A

description: An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction.


name: autosomal dominant nonsyndromic hearing loss 3A

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene.


description: Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.


name: autosomal dominant keratitis-ichthyosis-hearing loss syndrome

description: Autosomal dominant form of KID syndrome.


name: ichthyosis, hystrix-like, with hearing loss


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


thrombocytopenia 4

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


Ancell-Spiegler cylindromas

description: A rare autosomal dominant genodermatosis associated with germline mutations of the CYLD tumor suppressor gene. It is characterized by the development of multiple adnexal tumors (usually cylindromas and trichoepitheliomas), typically in the skin of the scalp. It manifests with numerous papules and/or large dome-shaped nodules on the scalp, resembling a turban.


name: developmental and epileptic encephalopathy, 63


anterior segment dysgenesis 8

description: Any anterior segment dysgenesis in which the cause of the disease is a mutation in the CPAMD8 gene.


name: combined immunodeficiency due to ORAI1 deficiency

description: A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.


myopathy, tubular aggregate, 2

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


hereditary spastic paraplegia 73

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


focal segmental glomerulosclerosis 9

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


Leber congenital amaurosis 7

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


cone-rod dystrophy 2

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


retinitis pigmentosa

description: Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.


blepharocheilodontic syndrome 2

description: Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene.


hereditary chronic pancreatitis

description: Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas.


hypotrichosis 2

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


peeling skin syndrome 1

description: Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene.


name: maturity-onset diabetes of the young type 8

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


nephronophthisis 18

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


name: cholesterol-ester transfer protein deficiency


primary ciliary dyskinesia 26

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


aromatase excess syndrome

description: Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.


name: asthma-related traits, susceptibility to, 7

description: Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the CHI3L1 gene.


schizophrenia

description: A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.


name: frontotemporal dementia and/or amyotrophic lateral sclerosis 2

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


name: lower motor neuron syndrome with late-adult onset


name: autosomal dominant mitochondrial myopathy with exercise intolerance


achromatopsia 2

description: Achromatopsia 2 is a condition that affects the color vision. Most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). Rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. Other common signs and symptoms include reduced visual acuity, involuntary back-and-forth eye movements, increased sensitivity to light (photophobia), and hyperopia (farsightedness). Achromatopsia 2 is caused by changes (mutations) in the CNGA3 gene and is inherited in an autosomal recessive manner. Although color discrimination cannot be improved, treatments are available to address some of the other associated symptoms.


name: intellectual disability, X-linked, syndromic, Houge type


Hermansky-Pudlak syndrome 7

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene.


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

description: A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the <i>CYP11A1</i> gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.


Joubert syndrome 17

description: Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene.


orofaciodigital syndrome type 6

description: Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.


name: carnitine palmitoyl transferase 1A deficiency

description: Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.


cataract 23

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA4 gene.


name: intellectual disability, autosomal recessive 34

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


name: syndromic X-linked intellectual disability Najm type

description: Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.


FG syndrome 4

description: Any FG syndrome in which the cause of the disease is a mutation in the CASK gene.


deafness-infertility syndrome

description: Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.


description: X-linked intellectual disability, Cabezas type is characterized by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localized to the q24-q25 region of the X chromosome.


name: metaphyseal chondrodysplasia-retinitis pigmentosa syndrome


cataract 14 multiple types

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the GJA3 gene.


hypomyelinating leukodystrophy 2

description: Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene.


hereditary spastic paraplegia 44

description: A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.


lymphatic malformation 3

description: Any hereditary lymphedema in which the cause of the disease is a mutation in the GJC2 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: agammaglobulinemia 6, autosomal recessive

description: Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene.


familial parathyroid adenoma

description: An instance of parathyroid gland adenoma that is caused by an inherited modification of the individual's genome.


Hyperparathyroidism-Jaw Tumor Syndrome

description: An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts.


parathyroid gland carcinoma

description: A very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors.


name: Parkinson disease 22, autosomal dominant

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


name: encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1


Tatton-Brown-Rahman overgrowth syndrome

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


name: immunodeficiency-centromeric instability-facial anomalies syndrome 1

description: Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the DNMT3B gene.


name: facioscapulohumeral muscular dystrophy 2

description: Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene.


name: hereditary sensory neuropathy-deafness-dementia syndrome

description: A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13.


name: autosomal dominant cerebellar ataxia, deafness and narcolepsy

description: Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.


name: autosomal systemic lupus erythematosus type 16

description: An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3.


name: developmental and epileptic encephalopathy, 23


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).


myotonic dystrophy type 2

description: Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders.


name: microcephaly 21, primary, autosomal recessive


name: severe early-childhood-onset retinal dystrophy

description: Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy.


achromatopsia 3

description: Any achromatopsia in which the cause of the disease is a mutation in the CNGB3 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: congenital dyserythropoietic anemia type type 1B


spondyloepiphyseal dysplasia congenita

description: A chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.


name: spondyloepiphyseal dysplasia, Stanescu type


name: spondyloepimetaphyseal dysplasia, Strudwick type

description: A spondyloepimetaphyseal dysplasia characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).


achondrogenesis type II

description: Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.


Legg-Calve-Perthes disease

description: A hip region disease that is characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible.


Kniest dysplasia

description: Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).


name: avascular necrosis of femoral head, primary, 1

description: Necrotic changes in the bone tissue of the femoral head due to interruption of blood supply.


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

description: Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.


name: multiple epiphyseal dysplasia, Beighton type

description: Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.


spondyloperipheral dysplasia

description: A condition caused by by truncating mutations in the C-propeptide of COL2A1. Like other type II collagen disorders it is characterized by short stature, platyspondyly and epiphyseal dysplasia. A distinguishing feature is the presence of brachydactyly with a prominent first toe.


Stickler syndrome type 1

description: Stickler syndrome inherited in an autosomal dominant pattern, caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain.


name: Stickler syndrome, type I, nonsyndromic ocular


name: spondyloepiphyseal dysplasia with metatarsal shortening

description: A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies.


porencephaly 2

description: Any porencephaly in which the cause of the disease is a mutation in the COL4A2 gene.


name: hemorrhage, intracerebral, susceptibility to

description: An inherited susceptibility or predisposition to developing intracerebral hemorrhage.


retinitis pigmentosa 26

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


name: microcephaly 6, primary, autosomal recessive

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


Seckel syndrome 4

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


basal laminar drusen

description: A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3.


name: hemolytic uremic syndrome, atypical, susceptibility to, 1


age related macular degeneration 4

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the CFH gene.


name: atypical hemolytic-uremic syndrome with I factor anomaly


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.


Mosaic Variegated Aneuploidy Syndrome 2

description: An autosomal recessive condition caused by mutation(s) in the CEP57 gene, encoding centrosomal protein of 57 kDa. It is characterized by variable phenotypes, associated with mosaic aneuploidies.


name: intellectual disability, autosomal dominant 40

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


name: intellectual developmental disorder with autism and macrocephaly


description: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.


osteogenesis imperfecta type 16

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


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 18

description: A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.


Roberts-SC phocomelia syndrome

description: A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities.


name: multiple acyl-CoA dehydrogenase deficiency

description: A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.


PEHO-like syndrome

description: PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.


Ewing sarcoma

description: A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms.


Ellis-van Creveld syndrome

description: Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.


acrofacial dysostosis, Weyers type

description: Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.


histiocytoma, Angiomatoid fibrous

description: A low malignant potential soft tissue neoplasm of uncertain differentiation. It typically affects young patients, presenting as a slowly growing nodular or cystic tumor mass, most often in the subcutaneous tissues of the extremities. Occasionally, patients have systemic symptoms (anemia, fever, and weight loss). This tumor has a relatively good prognosis. A minority of patients develop local recurrences. Metastases are rare.


platelet-type bleeding disorder 18

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


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


cystic fibrosis

description: Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.


name: congenital bilateral aplasia of vas deferens from CFTR mutation

description: An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis.


corneal dystrophy, Fuchs endothelial, 1

description: Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the COL8A2 gene.


name: posterior polymorphous corneal dystrophy 2

description: Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the COL8A2 gene.


complement component 4a deficiency

description: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4A gene.


epiphyseal dysplasia, multiple, 6

description: Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A1 gene.


Stickler syndrome, type 4

description: Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A1 gene.


name: autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

description: A syndrome characterized by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal hemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures.


name: brain small vessel disease 1 with or without ocular anomalies

description: Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene.


retinal arterial tortuosity

description: The presence of an increased number of twists and turns of the retinal artery.


schizencephaly

description: Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.


myosclerosis

description: Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries.


name: generalized dominant dystrophic epidermolysis bullosa

description: Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.


description: Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.


name: transient bullous dermolysis of the newborn

description: Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life.


name: pretibial dystrophic epidermolysis bullosa

description: Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region.


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


name: dystrophic epidermolysis bullosa pruriginosa

description: Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus.


nonsyndromic congenital nail disorder 8

description: Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the COL7A1 gene.


name: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12


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.


nemaline myopathy 7

description: Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene.


name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

description: Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene.


myoclonic epilepsy of Lafora 1

description: Any Lafora disease in which the cause of the disease is a variation in the EPM2A gene.


Vici syndrome

description: A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.


cataract 6 multiple types

description: Any cataract (disease) in which the cause of the disease is a mutation in the EPHA2 gene.


cerebrooculofacioskeletal syndrome 4

description: Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene.


xeroderma pigmentosum group D

description: Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene.


trichothiodystrophy 1, photosensitive

description: An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the ERCC2 gene, encoding general transcription and DNA repair factor IIH helicase subunit XPD.


cerebrooculofacioskeletal syndrome 2

description: Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene.


xeroderma pigmentosum group G

description: Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene.


Cockayne syndrome type 2

description: Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6.


cerebrooculofacioskeletal syndrome 1

description: Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene.


de Sanctis-Cacchione syndrome

description: A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.


age related macular degeneration 5

description: An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the ERCC6 gene.


UV-sensitive syndrome 1

description: Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC6 gene.


Cockayne syndrome type 1

description: Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8.


UV-sensitive syndrome 2

description: Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC8 gene.


craniosynostosis 4

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


cataract 44

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


name: arthrogryposis multiplex congenita 2, neurogenic type

description: Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.


name: autosomal recessive nonsyndromic hearing loss 35

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


platelet-type bleeding disorder 11

description: Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene.


Barrett esophagus

description: Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO)


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.


erythrocytosis, familial, 3

description: Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene.


renal hypomagnesemia 4

description: Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene.


spinocerebellar ataxia type 38

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


erythrocytosis, familial, 4

description: Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene.


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: chorea, childhood-onset, with psychomotor retardation


name: DPAGT1-congenital disorder of glycosylation

description: DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).


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: spondylometaphyseal dysplasia, Sedaghatian type

description: Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.


name: neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities


craniofrontonasal syndrome

description: An X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism.


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: neutropenia, severe congenital, 2, autosomal dominant

description: Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene.


name: nonimmune chronic idiopathic neutropenia of adults


name: leukoencephalopathy with vanishing white matter 1

description: Any leukoencephalopathy with vanishing white matter in which the cause of the disease is a variation in the EIF2B1 gene.


name: autosomal recessive nonsyndromic hearing loss 15

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GIPC3 gene.


Adams-Oliver syndrome 4

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


name: lethal congenital contracture syndrome 2

description: Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.


xeroderma pigmentosum group B

description: Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene.


trichothiodystrophy 2, photosensitive

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


autosomal dominant sideroblastic anemia

description: Autosomal dominant form of sideroblastic anemia.


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


name: autosomal dominant nonsyndromic hearing loss 10

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the EYA4 gene.


dilated cardiomyopathy 1J

description: An extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.


name: primary familial polycythemia due to EPO receptor mutation

description: Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.


name: microvascular complications of diabetes, susceptibility to, 2

description: Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the EPO gene.


erythrocytosis, familial, 5

description: Any familial polycythemia in which the cause of the disease is a mutation in the EPO gene.


name: amyloidosis, primary localized cutaneous, 3


astrocytoma (excluding glioblastoma)

description: A tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma.


ovarian cancer

description: A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas.


lung cancer

description: A malignant neoplasm involving the lung.


gastric cancer

description: A primary or metastatic malignant neoplasm involving the stomach.


testicular germ cell tumor

description: A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor.


46,XY sex reversal 4

description: Sex reversal in an individual associated with a 9p24.3 deletion.


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.


Riley-Day syndrome

description: A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.


primary ciliary dyskinesia 16

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAL1 gene.


hereditary breast carcinoma

description: Breast carcinoma that has developed in relatives of patients with history of breast carcinoma.


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1

description: Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

description: Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.


name: sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

description: A syndrome is characterized by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.


mitochondrial DNA depletion syndrome 4a

description: Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.


Leigh syndrome

description: A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.


name: epilepsy, idiopathic generalized, susceptibility to, 13

description: An inherited susceptibility or predisposition to developing juvenile myclonic epilepsy, idiopathic generalized epilepsy, or childhood absence epilepsy in which the cause of the disease is a mutation in the GABRA1 gene.


name: developmental and epileptic encephalopathy, 19

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


name: arrhythmogenic right ventricular dysplasia 11

description: Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the DSC2 gene.


name: epilepsy, idiopathic generalized, susceptibility to, 10

description: An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the GABRD gene.


glycogen storage disease III

description: Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.


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: combined oxidative phosphorylation defect type 4

description: Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.


glutaryl-CoA dehydrogenase deficiency

description: Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.


name: telangiectasia, hereditary hemorrhagic, type 1


cyclic hematopoiesis

description: A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever.


name: neutropenia, severe congenital, 1, autosomal dominant

description: Severe congenital neutropenia inherited in an autosomal dominant pattern and caused by mutation(s) in the ELANE gene, encoding neutrophil elastase


name: congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome


spinocerebellar ataxia type 34

description: A subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.


primary ciliary dyskinesia 9

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI2 gene.


microcephaly and chorioretinopathy 1

description: An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy.


Dyggve-Melchior-Clausen disease

description: Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias.


Smith-McCort dysplasia 1

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


name: autosomal dominant centronuclear myopathy

description: An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.


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: Charcot-Marie-Tooth disease dominant intermediate B

description: Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.


abdominal obesity-metabolic syndrome 3

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


polycystic kidney disease 5

description: Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene.


Wolcott-Rallison syndrome

description: Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.


pulmonary venoocclusive disease 2

description: A rare form of pulmonary arterial hypertension (PAH) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal.


name: intellectual disability, autosomal dominant 11

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EPB41L1 gene.


acromesomelic dysplasia 2A

description: An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.


name: acromesomelic dysplasia 2C, Hunter-Thompson type

description: Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.


symphalangism, proximal, 1B

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


multiple synostoses syndrome 2

description: Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene.


brachydactyly type A2

description: Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger.


osteoarthritis susceptibility 5

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


brachydactyly type A1C

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


spinocerebellar ataxia type 26

description: Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.


name: Klippel-Feil syndrome 1, autosomal dominant

description: Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene.


isolated microphthalmia 4

description: Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene.


Leber congenital amaurosis 17

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


name: hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

description: Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.


name: mitochondrial DNA deletion syndrome with progressive myopathy


Seckel syndrome 8

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


name: constitutional megaloblastic anemia with severe neurologic disease


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.


Miyoshi muscular dystrophy 1

description: Any Miyoshi myopathy in which the cause of the disease is a mutation in the DYSF gene.


name: distal myopathy with anterior tibial onset


name: hereditary sensory and autonomic neuropathy type 6

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


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


dicarboxylic aminoaciduria

description: Dicarboxylicaminoaciduria is characterized by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.


schizophrenia 18

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


name: mitochondrial trifunctional protein deficiency 1


name: long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

description: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.


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

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


Fanconi renotubular syndrome 3

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


premature ovarian failure 2A

description: Any primary ovarian failure in which the cause of the disease is a mutation in the DIAPH2 gene.


name: hyperphenylalaninemia due to DNAJC12 deficiency

description: Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017}).


coenzyme Q10 deficiency, primary, 3

description: Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene.


autosomal dominant Robinow syndrome 3

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


microcephaly and chorioretinopathy 3

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


asphyxiating thoracic dystrophy 3

description: An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.


glucocorticoid resistance

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


primary ciliary dyskinesia 3

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH5 gene.


name: developmental and epileptic encephalopathy, 31

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


Adams-Oliver syndrome 6

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


orofacial cleft 15

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


name: Hirschsprung disease, cardiac defects, and autonomic dysfunction


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.


name: Hirschsprung disease, susceptibility to, 4

description: An inherited susceptibility or predisposition to developing Hirschsprung disease in which the cause of the disease is a mutation in the EDN3 gene.


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

description: A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.


Waardenburg syndrome type 4B

description: A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3.


name: developmental and epileptic encephalopathy, 33

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


name: intellectual disability, autosomal dominant 38

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


DOCK2 deficiency

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


Adams-Oliver syndrome 2

description: Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DOCK6 gene.


name: combined immunodeficiency due to DOCK8 deficiency

description: Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE).


name: intellectual disability, autosomal dominant 2

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DOCK8 gene.


congenital myasthenic syndrome 10

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the DOK7 gene.


name: DK1-congenital disorder of glycosylation

description: DK1-CDG is characterized by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.


name: microcephaly, short stature, and limb abnormalities


orthostatic hypotension 1

description: A very rare primary monoamine neurotransmitter synthesis disorder with norepinephrine and adrenaline deficiency that leads to young-onset severe orthostatic hypotension and eyelid ptosis.


thyroid dyshormonogenesis 5

description: Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene.


name: maturity-onset diabetes of the young type 14

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


myotonic dystrophy type 1

description: Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.


mirror movements 3

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


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4

description: Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene.


X-linked reticulate pigmentary disorder

description: X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.


name: congenital stationary night blindness 1H

description: Any congenital stationary night blindness in which the cause of the disease is a mutation in the GNB3 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.


febrile seizures, familial, 8

description: A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype.


name: GTP cyclohydrolase I deficiency with hyperphenylalaninemia

description: An autosomal recessive condition caused by mutation(s) in the GCH1 gene, encoding GTP cyclohydrolase 1. It is characterized by hyperphenylalaninemia and GTP cyclohydrolase 1-deficient dopa-responsive dystonia.


dystonia 5

description: Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.


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

description: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene.


name: intellectual disability, autosomal dominant 13

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene.


name: autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

description: An autosomal dominant type of spinal muscular atrophy caused by mutation(s) in the DYNC1H1 gene, encoding cytoplasmic dynein 1 heavy chain 1.


primary ciliary dyskinesia 7

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH11 gene.


name: DYRK1A-related intellectual disability syndrome

description: An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13.


name: developmental and epileptic encephalopathy, 45

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB1 gene.


name: epilepsy, childhood absence, susceptibility to, 5

description: Any childhood absence epilepsy in which the cause of the disease is a mutation in the GABRB3 gene.


name: developmental and epileptic encephalopathy, 43

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene.


spermatogenic failure, Y-linked, 2

description: A Y-linked genetic condition caused by mutation(s) in the USP9Y gene, encoding probable ubiquitin carboxyl-terminal hydrolase FAF-Y.  It is associated with male infertility secondary to nonobstructive azoospermia and hypospermatogenesis.


name: spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome

description: A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.


name: mitochondrial DNA depletion syndrome 3 (hepatocerebral type)

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


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4

description: An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.


primary ciliary dyskinesia 34

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAJB13 gene.


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

description: Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production.


name: split hand-foot malformation 1 with sensorineural hearing loss

description: Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.


name: congenital anomalies of kidney and urinary tract 1

description: Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene.


hereditary spastic paraplegia 23

description: Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.


name: facioscapulohumeral muscular dystrophy 1

description: Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the FRG1 gene.


autosomal dominant Robinow syndrome 2

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


name: ossification of the posterior longitudinal ligament of the spine

description: A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms.


name: arterial calcification, generalized, of infancy, 1

description: An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications.


type 2 diabetes mellitus

description: A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity.


name: hypophosphatemic rickets, autosomal recessive, 2

description: Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene.


name: hypopigmentation-punctate palmoplantar keratoderma syndrome


pontocerebellar hypoplasia, type 1C

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


name: immunoskeletal dysplasia with neurodevelopmental abnormalities


congenital factor XI deficiency

description: Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.


congenital factor X deficiency

description: Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.


congenital factor V deficiency

description: Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms.


name: thrombophilia due to activated protein C resistance

description: A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance.


Budd-Chiari syndrome

description: Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.


cerebral infarction

description: An ischemic condition of the brain, producing a persistent focal neurological deficit in the area of distribution of the cerebral arteries.


name: pregnancy loss, recurrent, susceptibility to, 1

description: Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F5 gene.


name: congenital enteropathy due to enteropeptidase deficiency

description: A rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated.


name: autosomal recessive nonsyndromic hearing loss 102

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


Potocki-Shaffer syndrome

description: Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).


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


retinitis pigmentosa 25

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


name: autosomal dominant Kenny-Caffey syndrome

description: An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones.


osteocraniostenosis

description: Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.