CAPN15

PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318
R-numbers: R36
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318, Microphthalmia, HP:0000568, Coloboma, HP:0000589