CNNM4

cyclin and CBS domain divalent metal cation transport mediator 4
OMIM: 607805
PanelMode of inheritanceDetails
2 panels
R-numbers: R340
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Jalili syndrome, 217080 (includes amelogenesis imperfecta), cone-rod dystrophy and amelogenesis imperfecta
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Achromatopsia, Cone, and Cone-rod Dystrophy, Eye Disorders, Jalili syndrome