GTR Home > Conditions/Phenotypes > Waardenburg syndrome type 4C

Summary

Waardenburg syndrome type 4 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the eye, deafness, and Hirschsprung disease (review by Read and Newton, 1997). WS type 4C is caused by mutation in the SOX10 gene (602229). WS type 4 is genetically heterogeneous (see WS4A; 277580). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS2 (193510), and WS3 (148820). [from OMIM]

Available tests

38 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: DOM, PCWH, WS2E, WS4, WS4C, SOX10
    Summary: SRY-box 10

Clinical features

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