FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term deafness, dystonia, and cerebral hypomyelination ID (Ontology) DOID:0112123 (Human Disease)
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.
Also Known As "severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome" ; "severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome"
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 Genes
 deafness, dystonia, and cerebral hypomyelination       1
 for disease ribbon | deafness, dystonia, and cerebral hypomyelination       1
 model of | deafness, dystonia, and cerebral hypomyelination       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked dominant disease__
disease                        |
 |__syndrome___________________|
                               deafness, dystonia, and cerebral hypomyelination  1 rec.
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Is a X-linked dominant disease
syndrome
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Synonyms
  • "severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome" EXACT
    "severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome" EXACT
Secondary IDs
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GARD:12472
MIM:300475
ORDO:369939