AMPD1

adenosine monophosphate deaminase 1
OMIM: 102770
PanelMode of inheritanceDetails
2 panels
R-numbers: R419
Signed-off version 1.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy due to myoadenylate deaminase deficiency, OMIM:615511
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhabdomyolysis, Myopathy due to myoadenylate deaminase deficiency 615511