Search Ontology:
Human Disease
deafness, dystonia, and cerebral hypomyelination
- Term ID
- DOID:0112123
- Synonyms
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- 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
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- GARD:12472
- MIM:300475
- ORDO:369939
- Ontology
- Human Disease ( DOID:0112123 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models