RNU4-2 syndrome
id:
rnu4-2-syndrome-172-6498197
title:
RNU4-2 syndrome
text:
RNU4-2 Syndrome or ReNU syndrome is a neurodevelopmental disorder caused by de novo variants in the human gene RNU4-2, which encodes an RNA component of the major spliceosome. It is characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, dysmorphic facial features, and brain anomalies, including ventriculomegaly. RNU4-2 / ReNU syndrome is one
brand slug:
wiki
category slug:
encyclopedia
description:
This describes a novel genetic syndrome
original url:
https://en.wikipedia.org/wiki/RNU4-2_syndrome
date created:
2024-07-11T15:04:37Z
date modified:
2024-09-02T04:54:29Z
main entity:
{"identifier":"Q127868089","url":"https://www.wikidata.org/entity/Q127868089"}
image:
fields total:
13
integrity:
15