Waardenburg anophthalmia syndrome
id:
waardenburg-anophthalmia-syndrome-268-16020687
title:
Waardenburg anophthalmia syndrome
text:
Waardenburg anophthalmia syndrome is a rare autosomal recessive genetic disorder which is characterized by either microphthalmia or anophthalmia, osseous synostosis, ectrodactylism, polydactylism, and syndactylism. So far, 29 cases from families in Brazil, Italy, Turkey, and Lebanon have been reported worldwide. This condition is caused by homozygous mutations in the SMOC1 gene, in chromosome 14.
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Waardenburg_anophthalmia_syndrome
date created:
date modified:
2023-11-30T21:28:00Z
main entity:
{"identifier":"Q32136526","url":"https://www.wikidata.org/entity/Q32136526"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/3/3e/Autorecessive.svg","width":1350,"height":1580}
fields total:
13
integrity:
15