Global Variome shared LOVD

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Phenotype #0000175282 Individual ID 00235018 Associated disease GSD2 Phenotype details age onset 10-13y/11y; age analysis 13y/11y; no cardiomyopathy (-HP:0001638)/no cardiomyopathy (-HP:0001638); ventilatory support (HP:0002093) at night/ventilatory support (HP:0002093) at night; respiratory problems (HP:0002795)/respiratory problems (HP:0002795); wheelchair bound (HP:0002540)/not wheelchair bound (-HP:0002540) ; mobility problem (HP:0100022)/mobility problem (HP:0100022); kyphosis/scoliosis (HP:0010674)/no kyphosis/scoliosis (-HP:0010674); scapular winging (HP:0003691)/no scapular winging (-HP:0003691) Diagnosis/Initial glycogen storage disease Inheritance Familial, autosomal recessive Diagnosis/Definite GSD-2: childhood onset Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Pim Pijnappel Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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