OBO ID: DOID:0112123 |
Term Name: | deafness, dystonia, and cerebral hypomyelination | Search Ontology: | |
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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/ | ||
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Ontology: | Human Disease ( DOID:0112123 ) |
OTHER deafness, dystonia, and cerebral hypomyelination PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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