Spondylometaphyseal dysplasia with cone-rod dystrophy
id:
spondylometaphyseal-dysplasia-with-cone-rod-dystrophy-305-14404409
title:
Spondylometaphyseal dysplasia with cone-rod dystrophy
text:
Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare genetic disorder characterized by spondylometaphyseal dysplasia, neonatal growth delays, and cone-rod dystrophy-associated progressive vision loss. Only 18 patients from families in the United States, the United Kingdom, Japan, and Brazil have been described to date. This condition is caused by autosomal recessive mutations in the PCYT1A gene, located in chromosome 3. Other symptoms include rib anomalies, astigmatism, abnormalities
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Spondylometaphyseal_dysplasia_with_cone-rod_dystrophy
date created:
date modified:
2023-11-16T06:36:29Z
main entity:
{"identifier":"Q55783623","url":"https://www.wikidata.org/entity/Q55783623"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/f/f1/Autosomal_recessive_-_en.svg","width":738,"height":1283}
fields total:
13
integrity:
15