Phenotype #0000324742

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

Individual ID	00434386
Associated disease	NP
Diagnosis/Initial	Niemann-Pick type C disease, juvenile
Diagnosis/Definite	NPC1
Phenotype details	-
Inheritance	Familial, autosomal recessive
Age/Examination	16y6m (16 years, 6 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-03-24 10:31:23 +01:00 (CET)
Date last edited	N/A

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