Genitopatellar syndrome
id:
genitopatellar-syndrome-237-9670026
title:
Genitopatellar syndrome
text:
Genitopatellar syndrome is a rare disorder consisting of congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies. Additional symptoms include microcephaly, severe psychomotor disability. In 2012, it was shown that mutations in the gene KAT6B cause the syndrome. Genitopatellar syndrome (GTPTS) can be caused by heterozygous mutation in the KAT6B gene on chromosome 10q22. The Say-Barber-Biesecker variant of Ohdo syndrome, which has many overl
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Genitopatellar_syndrome
date created:
date modified:
2023-10-27T14:57:20Z
main entity:
{"identifier":"Q5533246","url":"https://www.wikidata.org/entity/Q5533246"}
image:
fields total:
13
integrity:
14