MAP3K20

mitogen-activated protein kinase kinase kinase 20
OMIM: 609479
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
congenital myopathy with fibre type disproportion