Acrofrontofacionasal dysostosis
id:
acrofrontofacionasal-dysostosis-241-7209804
title:
Acrofrontofacionasal dysostosis
text:
Acrofrontofacionasal dysostosis is an extremely rare disorder, characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip/palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia, and anomalies of foot structure. An association with mutations in the neuroblastoma amplified sequence gene (NBAS) has been reported. This gene is located on the short arm of chromosome 2. Mutations in this gene have been associated with the short stature, optic n
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Acrofrontofacionasal_dysostosis
date created:
date modified:
2024-02-26T03:16:01Z
main entity:
{"identifier":"Q4675773","url":"https://www.wikidata.org/entity/Q4675773"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/f/f1/Autosomal_recessive_-_en.svg","width":738,"height":1283}
fields total:
13
integrity:
15