Niemann Pick disease type C (Version: )

Relevant disorders: R380
Signed off date: 14 Sept 2023
Panel types: GMS Rare Disease, GMS signed-off
2 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A