CEP250

centrosomal protein 250
OMIM: 609689
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.57
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cone-rod dystrophy and hearing loss 2, OMIM:618358, MONDO:0020780
R-numbers: R32
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cone-rod dystrophy and hearing loss 2, OMIM:618358, MONDO:0020780