MAP3K7

mitogen-activated protein kinase kinase kinase 7
OMIM: 602614
PanelMode of inheritanceDetails
3 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Frontometaphyseal dysplasia 2, 617137, FMD2, autosomal dominant FMD, AD-FMD
R-numbers: R21, R412
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiospondylocarpofacial syndrome, OMIM:157800, Cardiospondylocarpofacial syndrome, MONDO:0008005, Frontometaphyseal dysplasia 2, OMIM:617137, Frontometaphyseal dysplasia 2, MONDO:0014935
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Frontometaphyseal dysplasia 2, 617137