MEDNIK syndrome
id:
mednik-syndrome-290-14849567
title:
MEDNIK syndrome
text:
MEDNIK syndrome (OMIM#609313), also known as "syndrome de Kamouraska", is a genetic disorder that is caused by mutations to the AP1S1 gene. Transmission of the disease is believed to be autosomal recessive. Symptoms of the syndrome are intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, and keratoderma (MEDNIK). People with MEDNIK syndrome often have a high forehead, upslanting palpebral fissures, a depressed nasal bridge, low-set ears, growth retardation, and brain atrophy a
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/MEDNIK_syndrome
date created:
date modified:
2024-01-31T22:01:33Z
main entity:
{"identifier":"Q22030615","url":"https://www.wikidata.org/entity/Q22030615"}
image:
fields total:
13
integrity:
14