"severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome"^^ . . _:vb50946126 . "DOID:0112123"^^ . _:vb50946126 . "disease_ontology"^^ . "GARD:12472"^^ . . . _:vb50946126 . "severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome"^^ . "deafness, dystonia, and cerebral hypomyelination"^^ . "ORDO:369939"^^ . "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 BCAP31 on chromosome Xq28."^^ . _:vb50946126 . . _:vb50946126 . "OMIM:300475"^^ .