| Metadata | |
|---|---|
| ID | DOID:0112123 |
| Name | deafness, dystonia, and cerebral hypomyelination |
| 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/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome [EXACT] severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome [EXACT] |
| Parent Relationships |
is_a X-linked dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some X-linked dominant inheritance |