Term Name: | obsolete Waardenburg syndrome type 2D |
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Synonyms: | Waardenburg syndrome type IID, WS2D |
Definition: | A Waardenburg 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. |
Ontology: | Human Disease [DOID:0110952] ( DOID:0110952 ) |
Obsolete | true |