Global Variome shared LOVD

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Phenotype #0000175558 Individual ID 00235294 Associated disease GSD2 Phenotype details died at 3y (2); age onset 5m-6m; moderate left ventricular non-obstructive hypertophy (2); liver/spleen involvement/liver/spleen involvement; respiratory problems (HP:0002795)/respiratory problems (HP:0002795); mobility problem (HP:0100022)/mobility problem (HP:0100022) 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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