NHLRC2

NHL repeat containing 2
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NHLRC2-related fibrosis, neurodegeneration, and cerebral angiomatosis, OMIM:618278
R-numbers: R147
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FINCA syndrome OMIM:618278
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FINCA syndrome OMIM:618278