deafness, dystonia, and cerebral hypomyelination (DOID:0112123)
Alliance: disease page
Synonyms: severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome; severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome
Alt IDs: OMIM:300475, ORDO:369939
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.