OBO ID: DOID:0112123
Term Name: deafness, dystonia, and cerebral hypomyelination Search Ontology:
Synonyms:
  • severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
  • severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome
Definition: A syndrome characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, white-matter changes and disorganization of the Golgi apparatus that has_material_basis_in heterozygous mutation in the BCAP31 gene on chromosome Xq28. https://pubmed.ncbi.nlm.nih.gov/24011989/
References:
Ontology: Human Disease   ( DOID:0112123 )
Relationships
is a type of:
OTHER deafness, dystonia, and cerebral hypomyelination PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
BCAP31 Deafness, dystonia, and cerebral hypomyelination 300475
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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