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Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Male infertility with normal virilization due to meiosis defect
4 OMIM references -
3 associated genes
No signs/symptoms info
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Male infertility with normal virilization due to meiosis defect

BCAP31
(UniProt - OMIM)
 CFTR
(UniProt - OMIM)
SOHLH1
(UniProt - OMIM)
SYCP3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
BCAP31
(0.73)
CFTR


Citations in the biomedical literature:


Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
BCAP31
Male infertility with normal virilization due to meiosis defect
CFTR SOHLH1 SYCP3



Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Male infertility with normal virilization due to meiosis defect

Synonym(s):
(no synonyms)

Synonym(s):
- Azoospermia due to maturation arrest
- Azoospermia due to meiosis defect
- Male infertility with normal virilization due to maturation arrest
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: -
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
4 OMIM references -
No MeSH references
No signs/symptoms info available.