deafness, dystonia, and cerebral hypomyelination

Term ID

DOID:0112123

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. https://pubmed.ncbi.nlm.nih.gov/24011989/

References

• GARD:12472
• OMIM:300475
• ORDO:369939

Ontology

Human Disease   ( DOID:0112123 )