Waardenburg syndrome type 2D
id:
waardenburg-syndrome-type-2d-268-18484478
title:
Waardenburg syndrome type 2D
text:
Waardenburg syndrome type 2D, a subtype of the Waardenburg syndrome, is a rare congenital disorder caused by a mutation in the SLUG (SNAI2) gene. It is characterized by the lack of pigmentation in the skin, hair, and eyes as well as the abnormalities in the outer wall of the cochlea. This subtype lacks the wide distance between the eyes, known as dystopia canthorum, that is observed in most patients with Waardenburg syndrome. Those affected, exhibit varying degrees of deafness or complete hearin
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Waardenburg_syndrome_type_2D
date created:
date modified:
2024-02-15T20:50:18Z
main entity:
{"identifier":"Q32145160","url":"https://www.wikidata.org/entity/Q32145160"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/f/f1/Autosomal_recessive_-_en.svg","width":738,"height":1283}
fields total:
13
integrity:
15