Phenotype #0000219684

Individual ID 00281793
Associated disease GSD3
Phenotype details Hepatomegaly (HP:0002240);short stature (HP:0004322); Jaundice (HP:0000952) Full cheeks (HP:0000293); Growth delay (HP:0001510) Lethargy (HP:0001254); Muscular hypotonia (HP:0001252); Hypertriglyceridemia (HP:0002155), Hypoglycemia (HP:0001943); Elevated hepatic transaminase (HP:0002910); Elevated serum creatine kinase (HP:0003236);
Diagnosis/Initial GSDIII
Inheritance Familial, autosomal recessive
Diagnosis/Definite GSDIII
Age/Examination 04y (4 years)
Age/Diagnosis 04y
Age/Onset 00y09m
Phenotype/Onset -
Protein -
Owner name Shama Perveen
Database submission license No license selected
Created by Shama Perveen
Date created 2020-02-06 04:24:40 +01:00 (CET)
Date last edited 2020-05-27 10:57:17 +02:00 (CEST)

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