Phenotype #0000324719

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00434362
Associated disease	NP
Diagnosis/Initial	Niemann-Pick type C disease
Diagnosis/Definite	NPC2
Phenotype details	4m-neonatal cholestatic icterus; pulmonary involvement; 7m-9m-severe motor development delay (15m-sit, no further progress); growth retardation, increasing pulmonary fibrosis, oxygen dependency, respiratory failure
Inheritance	Familial, autosomal recessive
Age/Examination	19m
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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