Coloboma of macula-brachydactyly type B syndrome
id:
coloboma-of-macula-brachydactyly-type-b-syndrome-273-2693018
title:
Coloboma of macula-brachydactyly type B syndrome
text:
Coloboma of macula-brachydactyly type B syndrome, also known as Sorbsy syndrome is a rare genetic disorder which is characterized by bilateral macular coloboma, nystagmus of the horizontal pendular type, visual impairment, and brachydactyly type B. Additional findings include congenital anonychia, broad/duplication of the thumbs and big toes, syndactyly and camptodactyly. It is inherited in an autosomal dominant manner. It has been described in 9 members of a 4-generation British family.
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Coloboma_of_macula-brachydactyly_type_B_syndrome
date created:
date modified:
2023-05-07T13:20:43Z
main entity:
{"identifier":"Q55780433","url":"https://www.wikidata.org/entity/Q55780433"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/4/4e/Autosomal_dominant_-_en.svg","width":738,"height":1260}
fields total:
13
integrity:
15