IMPDH2

inosine monophosphate dehydrogenase 2
OMIM: 146691
PanelMode of inheritanceDetails
2 panels
R-numbers: R57
Signed-off version 2.6
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with dystonia
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
Phenotypes
Neurodevelopmental disorder with dystonia