DYSF

PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.21
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Miyoshi muscular dystrophy 1, 254130
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, type 2B, 253601Myopathy, distal, with anterior tibial onset, 606768Miyoshi muscular dystrophy 1, 254130, Limb-Girdle Muscular Dystrophy, Recessive, Limb-girdle muscular dystrophy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.34
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Miyoshi muscular dystrophy 1 254130, Muscular dystrophy, limb-girdle, type 2B 253601, Myopathy, distal, with anterior tibial onset 606768