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Metadata
ID DOID:0110950
Name Waardenburg syndrome type 2A
Definition A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutation in the MITF gene on chromosome 3p13.
https://www.ncbi.nlm.nih.gov/pubmed/20127975, https://www.ncbi.nlm.nih.gov/pubmed/7874167
Xrefs

GARD:5521

OMIM:193510

Synonyms

Waardenburg syndrome type IIA [EXACT]

WS2A [EXACT]

Parent Relationships

is_a Waardenburg's syndrome

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