Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
id:
congenital-muscular-dystrophy-infantile-cataract-hypogonadism-syndrome-187-17819021
title:
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
text:
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is a very rare genetic disorder which is characterized by congenital muscular dystrophy, infantile-onset cataract, and hypogonadism. Males usually develop Klinefelter syndrome while females develop agenesis of the ovaries. It has been described in eight individuals of which seven came from Finnmark County, Norway. Inheritance pattern is thought to be autosomal recessive.
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Congenital_muscular_dystrophy-infantile_cataract-hypogonadism_syndrome
date created:
2022-06-09T19:58:14Z
date modified:
2024-09-08T22:01:18Z
main entity:
{"identifier":"Q55782123","url":"https://www.wikidata.org/entity/Q55782123"}
image:
fields total:
13
integrity:
15