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Waardenburg syndrome type 1

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Name:
Waardenburg syndrome type 1
Description:
A subtype of Waardenburg syndrome (WS) characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.
ORPHAcode:
894
Synonyms:
WS1
Waardenburg syndrome type I
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
PAX3
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14