SMAD6

SMAD family member 6
OMIM: 602931
PanelMode of inheritanceDetails
4 panels
R-numbers: R100
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
metopic synostosis, sagittal synostosis, {Craniosynostosis 7, susceptibility to} 617439
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
radioulnar synostosis
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Radioulnar synostosis, nonsyndromic}, OMIM:179300
R-numbers: R125
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Aortic valve disease 2 614823