Phenotype #0000175214

Individual ID	00234950
Associated disease	GSD2
Phenotype details	no cardiomyopathy (-HP:0001638); ventilatory support (HP:0002093); respiratory problems (HP:0002795); mobility problem (HP:0100022); no ptosis (-HP:0000508)
Diagnosis/Initial	glycogen storage disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	GSD-2: adult onset
Age/Examination	50y (50 years)
Age/Diagnosis	-
Age/Onset	41y
Phenotype/Onset	-
Protein	-
Owner name	Pim Pijnappel
Database submission license
Created by	Johan den Dunnen
Date created	2019-05-10 13:10:57 +02:00 (CEST)
Date last edited	N/A

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