Microphthalmia, syndromic 12 (MCOPS12)
id:
microphthalmia-syndromic-12-mcops12-271-11015044
title:
Microphthalmia, syndromic 12 (MCOPS12)
text:
Microphthalmia, syndromic 12 (MCOPS12) is an ultra-rare and complex neurological disease. It is caused by a single-point missense mutation in the retinoic acid receptor beta (RARB) gene. The most common disease symptoms are microphthalmia, severe (progressive) movement disorders and intellectual disability. Movement disorders may include spasticity, dystonia and chorea. In addition, malformations such as incomplete lung development, defects of the cerebellum, and a defect/hole in the diaphragm h
brand slug:
wiki
category slug:
encyclopedia
description:
original url:
https://en.wikipedia.org/wiki/Microphthalmia,_syndromic_12_(MCOPS12)
date created:
date modified:
2023-02-12T15:45:22Z
main entity:
{"identifier":"Q56003301","url":"https://www.wikidata.org/entity/Q56003301"}
image:
fields total:
13
integrity:
13