NUDT2

nudix hydrolase 2
OMIM: 602852
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular hypotonia, Global developmental delay, Intellectual disability, Polyneuropathy, no OMIM number