Ogden syndrome
id:
ogden-syndrome-289-14965288
title:
Ogden syndrome
text:
Ogden syndrome, also known as N-terminal acetyltransferase deficiency (NATD), is an X-linked disorder of infancy comprising a distinct combination of distinctive craniofacial features producing an aged appearance, growth failure, hypotonia, global developmental delays, cryptorchidism, and spontaneous cardiac arrhythmias. The first family was identified in Ogden, Utah, with five affected boys in two generations of family members. A mutation was identified as a c.109T>C (p.Ser37Pro) variant in NAA
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Ogden_syndrome
date created:
date modified:
2023-05-17T20:15:57Z
main entity:
{"identifier":"Q17144188","url":"https://www.wikidata.org/entity/Q17144188"}
image:
fields total:
13
integrity:
14