Phenotype #0000324811

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00434476
Associated disease	NP
Diagnosis/Initial	Niemann-Pick type C disease, childhood
Diagnosis/Definite	NPC1
Phenotype details	no neonatal liver disease; 1d-hepatosplenomegaly/splenomegaly; cataplexy, epilepsy; vertical gaze palsy; ataxia; swallowing problems
Inheritance	Familial, autosomal recessive
Age/Examination	16y (16 years)
Age/Diagnosis	-
Age/Onset	4y5m
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-04-01 17:36:26 +02:00 (CEST)
Date last edited	N/A

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