Phenotype #0000352554

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00467347
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay, dyspnea
Diagnosis/Definite	GSD1B
Phenotype details	neutropenia, lactic acidosis, dyspnea, hyperlipidemia, hyperuricemia, decreased liver function, hepatomegaly
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	2025-10-12 14:40:38 +02:00 (CEST)
Date last edited	N/A

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