Term Name: deafness, dystonia, and cerebral hypomyelination
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 )

Relationships
is a type of: syndrome X-linked dominant disease