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GTR Home > Conditions/Phenotypes > Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

Synonyms
Chromosome Xq28 deletion syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Deafness, dystonia, and cerebral hypomyelination is an X-linked recessive mental retardation syndrome characterized by almost no psychomotor development, dysmorphic facial features, sensorineural deafness, dystonia, pyramidal signs, and hypomyelination on brain imaging (summary by Cacciagli et al., 2013). [from OMIM]

Available tests

19 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 6C6-AG, BAP31, CDM, DDCH, DELXQ28, DXS1357E, MICRODELXq28, BCAP31
    Summary: B cell receptor associated protein 31

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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