Phenotype #0000175190

Individual ID 00234926
Associated disease GSD2
Phenotype details age onset 1-38y; age analysis 12-60y (6)/died at 40y (1); ventilatory support (HP:0002093) (2)/no ventilatory support (-HP:0002093) (5); wheelchair bound (HP:0002540) (3)/not wheelchair bound (-HP:0002540 (4); mobility problem (HP:0100022) (7)
Diagnosis/Initial glycogen storage disease
Inheritance Familial, autosomal recessive
Diagnosis/Definite GSD-2: Childhood (2)/ Adult (5)
Age/Examination -
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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