Schwartz–Jampel syndrome
id:
schwartz-jampel-syndrome-287-1122188
title:
Schwartz–Jampel syndrome
text:
Schwartz–Jampel syndrome is a rare genetic disease caused by a mutation in the perlecan gene (HSPG2) which causes osteochondrodysplasia associated with myotonia. Most people with Schwartz–Jampel syndrome have a nearly normal life expectancy.
brand slug:
wiki
category slug:
encyclopedia
description:
Rare genetic condition of muscle and cartilage
original url:
https://en.wikipedia.org/wiki/Schwartz%E2%80%93Jampel_syndrome
date created:
date modified:
2023-07-26T09:00:49Z
main entity:
{"identifier":"Q9390341","url":"https://www.wikidata.org/entity/Q9390341"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/f/f1/Autosomal_recessive_-_en.svg","width":738,"height":1283}
fields total:
13
integrity:
15