UFC1:Ensemblv115

ubiquitin-fold modifier conjugating enzyme 1
OMIM: 610554, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green UFC1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with spasticity and poor growth
  • OMIM #618076
Tags
  • deep intronic