Birk-Barel syndrome
id:
birk-barel-syndrome-310-15568695
title:
Birk-Barel syndrome
text:
Birk-Barel syndrome is a rare genetic disorder associated with the KCNK9 gene. Signs and symptoms include mental retardation, hypotonia, hyperactivity, and syndromic facies. Due to imprinting, mutations in the maternal copy of KCNK9 cause the condition, while mutations in the paternal copy do not. As such, this condition can only be inherited from the mother. The Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome.
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Birk-Barel_syndrome
date created:
date modified:
2023-11-02T05:12:54Z
main entity:
{"identifier":"Q18553391","url":"https://www.wikidata.org/entity/Q18553391"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/4/4e/Autosomal_dominant_-_en.svg","width":738,"height":1260}
fields total:
13
integrity:
15