Deafness, Dystonia, And Cerebral Hypomyelination
Disease ID: disease_node_13588
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| Dbxref | GARD:12472, MIM:300475, ORDO:369939 |
|---|---|
| Subclassof | DOID_225, DOID_0080009 |
| Data Source | DOID |
| Synonyms | severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome, severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome |
| Doid Label | deafness, dystonia, and cerebral hypomyelination |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000146 |
| Disease Node Id | disease_node_13588 |
| Doid Id | DOID_0112123 |
| Label | Deafness, Dystonia, And Cerebral Hypomyelination |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Domit Disease(ID:disease_node_13587) (Disease)