PAX7

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
Hypotonia, Axial hypotonia, Ptosis, Scoliosis, Delayed motor milestones, Myopathy, congenital, progressive, with scoliosis, 618578