CHD3

chromodomain helicase DNA binding protein 3
OMIM: 602120
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Global developmental delay, Intellectual disability, Macrocephaly, Snijders Blok-Campeau syndrome, 618205