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 InternationalCreative Commons License
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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