NSUN2

NOP2/Sun RNA methyltransferase family member 2
OMIM: 610916
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 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mental Retardation, Recessive, Mental retardation, autosomal recessive 5, 611091, AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5