SEC24D

SEC24 homolog D, COPII coat complex component
OMIM: 607186
PanelMode of inheritanceDetails
2 panels
R-numbers: R102
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cole-Carpenter syndrome, Osteogenesis Imperfecta, Cole Carpenter syndrome, SYNDROMIC OSTEOGENESIS IMPERFECTA
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis Imperfecta, Cole Carpenter syndrome, Cole-Carpenter syndrome, SYNDROMIC OSTEOGENESIS IMPERFECTA