Phenotype #0000175166

Individual ID 00234902
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 52y (52 years)
Age/Diagnosis -
Age/Onset 34y
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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