MAP3K20

mitogen-activated protein kinase kinase kinase 20
OMIM: 609479
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
Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760, Myopathy, centronuclear, 6, with fiber-type disproportion, MONDO:0054695
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760, Myopathy, centronuclear, 6, with fiber-type disproportion, MONDO:0054695, Split-foot malformation with mesoaxial polydactyly, OMIM:616890, Split-foot malformation-mesoaxial polydactyly syndrome, MONDO:0014816