COACH syndrome
id:
coach-syndrome-317-18537895
title:
COACH syndrome
text:
COACH syndrome, also known as Joubert syndrome with hepatic defect, is a rare autosomal recessive genetic disease. The name is an acronym of the defining signs: cerebellar vermis aplasia, oligophrenia, congenital ataxia, coloboma and hepatic fibrosis. The condition is associated with moderate intellectual disability. It falls under the category of a Joubart Syndrome-related disorder (JSRD). The syndrome was first described in 1974 by Alasdair Hunter and his peers at the Montreal Children's Hospi
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/COACH_syndrome
date created:
date modified:
2024-01-01T02:27:35Z
main entity:
{"identifier":"Q25326623","url":"https://www.wikidata.org/entity/Q25326623"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/c/cc/Coloboma_of_the_iris.JPG","width":1832,"height":1244}
fields total:
13
integrity:
15