NR4A2

nuclear receptor subfamily 4 group A member 2
OMIM: 601828
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Generalized hypotonia, Global developmental delay, Intellectual disability, Seizures, Behavioral abnormality, Abnormality of movement, Joint hypermobility
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Language impairment, Intellectual disability, Autism, Behavioral abnormality, No OMIM number