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Human Disease

deafness, dystonia, and cerebral hypomyelination

Term ID
DOID:0112123
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
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Genes Involved
Zebrafish Models