glutamate ionotropic receptor AMPA type subunit 2
OMIM: 138247
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 4.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Epileptic encephalopathy intellectual disability stereotypic hand movements, Neurodevelopmental disorder with language impairment and behavioral abnormalities MIM#618917