AMPD1

adenosine monophosphate deaminase 1
OMIM: 102770
PanelMode of inheritanceDetails
1 panel
R-numbers: R419
Signed-off version 1.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy due to myoadenylate deaminase deficiency, OMIM:615511