Smith–Martin–Dodd syndrome
id:
smith-martin-dodd-syndrome-298-1172711
title:
Smith–Martin–Dodd syndrome
text:
Smith–Martin–Dodd syndrome is a very rare genetic disorder first described by Smith et al. in 1994. It is characterized by small eyes, a diaphragmatic hernia, and Tetralogy of Fallot, a congenital heart defect. The only known case is of a 9-year-old boy with several congenital anomalies including a diaphragmatic hernia, microphthalmia, and Tetralogy of Fallot. It was found that the boy had a reciprocal translocation t(1;15)(q41;q21.2). A congenital diaphragmatic hernia is consistent with chromos
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Smith%E2%80%93Martin%E2%80%93Dodd_syndrome
date created:
date modified:
2024-03-04T08:25:55Z
main entity:
{"identifier":"Q17124192","url":"https://www.wikidata.org/entity/Q17124192"}
image:
fields total:
13
integrity:
14