Phenotype #0000324724

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00434367
Associated disease	NP
Diagnosis/Initial	Niemann-Pick type C disease
Diagnosis/Definite	NPC2
Phenotype details	3y6m-deceased; hepatosplenomegaly, delay in psychomotor milestones, hypotonia with hyperreflexia, ataxia
Inheritance	Familial, autosomal recessive
Age/Examination	3y (3 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-03-23 20:54:35 +01:00 (CET)
Date last edited	N/A

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