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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 BCAP31 on chromosome Xq28.


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/12/2021
MGI 6.17
The Jackson Laboratory