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Waardenburg syndrome type 2E

Synonyms
HYPOGONADOTROPIC HYPOGONADISM WITH ANOSMIA AND DEAFNESS, WITH OR WITHOUT HYPOPIGMENTATION; WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT; WS2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT; Waardenburg Syndrome Type IIE

Summary

Waardenburg syndrome type 2 (WS2) is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by Read and Newton, 1997). Individuals with WS type 2E (WS2E) may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A, 193510). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS3 (148820), and WS4 (277580). [from OMIM]

Available tests

61 tests are in the database for this condition.

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Clinical tests (61 available)

Molecular Genetics 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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