LFNG

LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
OMIM: 602576
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPONDYLOCOSTAL DYSOSTOSIS TYPE 3 609813
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPONDYLOCOSTAL DYSOSTOSIS TYPE 3