JARID2

jumonji and AT-rich interaction domain containing 2
OMIM: 601594
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
Intellectual disability, Neurodevelopmental syndrome, Developmental delay with variable intellectual disability and dysmorphic facies, OMIM:620098