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Metadata
ID DOID:0110951
Name Waardenburg syndrome type 2C
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 variation in the chromosome region 8p23.
https://www.ncbi.nlm.nih.gov/pubmed/11810298, https://www.ncbi.nlm.nih.gov/pubmed/20127975
Xrefs

OMIM:606662

Synonyms

Waardenburg syndrome type IIC [EXACT]

WS2C [EXACT]

Parent Relationships

is_a Waardenburg's syndrome

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