PXDN

PanelMode of inheritanceDetails
3 panels
R-numbers: R31
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital cataract, corneal opacity, developmental glaucoma, corneal opacification associated with other ocular anomalies (COPA)
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA
R-numbers: R36
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Corneal opacification and other ocular anomalies, 269400