Phenotype #0000340316

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00451655
Associated disease	GSD1B
Phenotype details	Intellectual disability, Microcephaly, Abnormal hepatic glycogen storage, Pancreatitis
Diagnosis/Initial	Glycogen storage disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Glycogen storage disease Ib
Age/Examination	-
Age/Diagnosis	11y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Miriam Erandi Reyna-Fabián
Database submission license
Created by	Miriam Erandi Reyna-Fabián
Date created	2024-06-21 21:33:40 +02:00 (CEST)
Date last edited	2024-06-28 10:18:49 +02:00 (CEST)

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