DO_rare_slim has material basis in X-linked dominant disease deafness, dystonia, and cerebral hypomyelination ORDO:369939 GARD:12472 disease_ontology DOID:0112123 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. MIM:300475 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome syndrome X-linked dominant inheritance