Phenotype #0000325206

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	00434959
Associated disease	NP
Diagnosis/Initial	Niemann-Pick type C, late infantile
Diagnosis/Definite	NPC1
Phenotype details	vertical supranuclear ophthalmoplegia, clumsiness, dysarthria
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	4y
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-04-14 17:49:22 +02:00 (CEST)
Date last edited	N/A

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