UBE3C:Ensemblv115

ubiquitin protein ligase E3C
OMIM: 614454, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green UBE3C in Angelman Rett like syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities, MIM# 620270