FAM46A

family with sequence similarity 46 member A
OMIM: 611357
PanelMode of inheritanceDetails
2 panels
R-numbers: R102
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
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, type XVIII 617952