PAX7

PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypotonia, Axial hypotonia, Ptosis, Scoliosis, Delayed motor milestones, Myopathy, congenital, progressive, with scoliosis, 618578
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, congenital, progressive, with scoliosis, OMIM:618578, Myopathy, congenital, progressive, with scoliosis, MONDO:0032821