Global Variome shared LOVD

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

Phenotype #0000340321 Individual ID 00451660 Associated disease GSD1A Phenotype details Short stature, Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia, Hypercholesterolemia. Diagnosis/Initial Glycogen storage disease Inheritance Familial, autosomal recessive Diagnosis/Definite Glycogen storage disease Ia Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Miriam Erandi Reyna-Fabián Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Miriam Erandi Reyna-Fabián Date created 2024-06-21 22:18:20 +02:00 (CEST) Date last edited 2024-06-28 10:35:02 +02:00 (CEST)

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