CAPN3

PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R82
Signed-off version 4.33
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 1, OMIM:253600, Muscular dystrophy, limb-girdle, autosomal dominant 4, OMIM:618129