CFL2

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
Nemaline myopathy 7, autosomal recessive, 610687, Nemaline Myopathy, Recessive
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 7, autosomal recessive, OMIM:610687, Nemaline myopathy 7, MONDO:0012538