NSD2

nuclear receptor binding SET domain protein 2
OMIM: 602952
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intrauterine growth retardation, Growth delay, Microcephaly, Muscular hypotonia, Neurodevelopmental delay, Intellectual disability, No OMIM number