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DOID:0112123 - deafness, dystonia, and cerebral hypomyelination
Disease Ontology 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.
Synonyms: severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome, severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome
Xenbase Genes
:
bcap31
| MIM:300475 - DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION; DDCH |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
syndrome (is_a),
X-linked dominant disease (is_a)