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)