RINT1

RAD50 interactor 1
OMIM: 610089
PanelMode of inheritanceDetails
3 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile liver failure syndrome 3 OMIM:618641, infantile liver failure syndrome 3 MONDO:0032844
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile liver failure syndrome 3 OMIM:618641, infantile liver failure syndrome 3 MONDO:0032844
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
liver failure, short stature, skeletal abnormalities, Infantile liver failure syndrome 3 OMIM:618641, infantile liver failure syndrome 3 MONDO:0032844