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Waardenburg syndrome type 4C

Synonyms
WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4C; Waardenburg Syndrome Type IVC

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

48 tests are in the database for this condition.

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Clinical tests (47 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

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

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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