Phenotype #0000324720

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00434363
Associated disease	NP
Diagnosis/Initial	Niemann-Pick type C disease
Diagnosis/Definite	NPC2
Phenotype details	failure to thrive (with poor feeding); 1y-hepatospleno-megaly, mild delay motor milestones, severe lung involvement; 20m-oxygen dependent, quadruspasticity
Inheritance	Familial, autosomal recessive
Age/Examination	4y (4 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 19:05:01 +01:00 (CET)
Date last edited	N/A

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