PYROXD1

pyridine nucleotide-disulphide oxidoreductase domain 1
OMIM: 617220
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R81
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, myofibrillar, 8, OMIM:617258