AIPL1

aryl hydrocarbon receptor interacting protein like 1
OMIM: 604392
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LEBER CONGENITAL AMAUROSIS 4 604393
R-numbers: R32
Signed-off version 5.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Cone-rod dystrophy, OMIM:604393, Retinitis pigmentosa, juvenile, OMIM:604393, Leber congenital amaurosis 4, OMIM:604393