CFAP53

cilia and flagella associated protein 53
OMIM: 614759
PanelMode of inheritanceDetails
3 panels
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Heterotaxy, visceral, 6, autosomal recessive, Dextrocardia, Transposition of the great arteries, gut malrotation, midline liver, inverted spleen
R-numbers: R139
Signed-off version 1.19
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Heterotaxy, visceral, 6, autosomal recessive, 614779
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 1.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Heterotaxy, visceral, 6, autosomal recessive