KDELR2

KDEL endoplasmic reticulum protein retention receptor 2
OMIM: 609024
PanelMode of inheritanceDetails
2 panels
R-numbers: R102
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Increased susceptibility to fractures, joint hypermobility, Scoliosis, Bowing of the legs, Bowing of the arms, Osteogenesis imperfecta
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Increased susceptibility to fractures, joint hypermobility, Scoliosis, Bowing of the legs, Bowing of the arms, Osteogenesis imperfecta