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Metadata
ID DOID:0110952
Name Waardenburg syndrome type 2D
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 homozygous deletion of the SNAI2 gene on chromosome 8q11.
https://www.ncbi.nlm.nih.gov/pubmed/12444107, https://www.ncbi.nlm.nih.gov/pubmed/20127975
Xrefs

OMIM:608890

Synonyms

Waardenburg syndrome type IID [EXACT]

WS2D [EXACT]

Parent Relationships

is_a Waardenburg's syndrome

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