Term Name: | deafness, dystonia, and cerebral hypomyelination |
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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. |
Ontology: | Human Disease [DOID:0112123] ( DOID:0112123 ) |