Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000357254 Individual ID 00472444 Associated disease metabolic disease Phenotype details ketotic hypoglycemia (HP:0012734); postprandial hyperglycemia (HP:0011998); short stature (HP:0004322) Diagnosis/Initial glycogen storage disease Inheritance Familial, autosomal recessive Diagnosis/Definite GSD0A Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-02-16 15:46:49 +01:00 (CET) Date last edited N/A

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