UBE4A:Ensemblv115

ubiquitination factor E4A
OMIM: 603753, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green UBE4A in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with hypotonia and gross motor and seech delay, MIM# 619639