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Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
1 OMIM reference -
1 associated gene
28 connected diseases
No signs/symptoms info
Disease Type of connection
CADDS
Autoimmune lymphoproliferative syndrome with recurrent infections
Chorioretinopathy, Birdshot type
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Baraitser-Winter syndrome
Follicular lymphoma
Intravascular large B-cell lymphoma
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Congenital bilateral absence of vas deferens
Cystic fibrosis
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Male infertility with normal virilization due to meiosis defect
Huntington disease
Juvenile Huntington disease
Combined deficiency of factor V and factor VIII
Congenital alpha2 antiplasmin deficiency
Hereditary combined deficiency of vitamin K-dependent clotting factors
Autosomal dominant spastic ataxia 1
Isolated cytochrome C oxidase deficiency
MELAS syndrome
Maternally-inherited Leigh syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
BCAP31 P51572300398
No signs/symptoms info available.