HES7

hes family bHLH transcription factor 7
OMIM: 608059
PanelMode of inheritanceDetails
2 panels
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondylocostal dysostosis 4, autosomal recessive 613686
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondylocostal dysostosis 4, autosomal recessive 613686