CAV3

PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Limb-Girdle Muscular Dystrophy, Dominant, Muscular dystrophy, limb-girdle, type IC, 607801, Rippling muscle disease, 606072, Creatine phosphokinase, elevated serum, 123320, Myopathy, distal, Tateyama type, 614321, Cardiomyopathy, familial hypertrophic, 192600, Limb-girdle muscular dystrophy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.34
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, type IC 607801, Myopathy, distal, Tateyama type 614321, Rippling muscle disease 606072