CAPN15

PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318
R-numbers: R36
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318, Microphthalmia, HP:0000568, Coloboma, HP:0000589