PYROXD1

pyridine nucleotide-disulphide oxidoreductase domain 1
OMIM: 617220
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, myofibrillar, 8, 617258, myopathy, early-onset myopathy with internalized nuclei and myofibrillar disorganization