IMPDH1

inosine monophosphate dehydrogenase 1
OMIM: 146690
PanelMode of inheritanceDetails
1 panel
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Leber congenital amaurosis 11, Retinitis pigmentosa 10, Retinitis pigmentosa 10, 180105, Leber Congenital Amaurosis, Leber congenital amaurosis 11, Eye Disorders, Retinitis Pigmentosa, Dominant, Retinitis pigmentosa