Phenotype #0000175132

Individual ID 00234868
Associated disease GSD2
Phenotype details age onset unknown; no cardiomyopathy (-HP:0001638); not wheelchair bound (-HP:0002540)
Diagnosis/Initial glycogen storage disease
Inheritance Familial, autosomal recessive
Diagnosis/Definite GSD-2: adult onset
Age/Examination 58y (58 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Pim Pijnappel
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons 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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