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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LEBER CONGENITAL AMAUROSIS 4 604393
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Achromatopsia, Cone, and Cone-rod Dystrophy, Cone-rod dystrophy (AD), Leber congenital amaurosis 4 (AR), Retinitis pigmentosa, juvenile (AD), Leber Congenital Amaurosis, Leber congenital amaurosis, Leber congenital amaurosis 4, 604393, Retinitis pigmentosa, juvenile, 604393, Cone-rod dystrophy, 604393, Eye Disorders, Retinitis Pigmentosa, Dominant, Retinitis Pigmentosa, Recessive, Retinitis pigmentosa