Phenotype #0000174979

Global Variome shared LOVD

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

Individual ID	00234715
Associated disease	GSD2
Phenotype details	no cardiomyopathy (-HP:0001638); ventilatory support (HP:0002093); respiratory problems (HP:0002795); kyphosis/scoliosis (HP:0010674)
Diagnosis/Initial	glycogen storage disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	GSD-2: childhood onset
Age/Examination	4y (4 years)
Age/Diagnosis	-
Age/Onset	>2y
Phenotype/Onset	-
Protein	-
Owner name	Pim Pijnappel
Database submission license
Created by	Johan den Dunnen
Date created	2019-05-10 13:10:57 +02:00 (CEST)
Date last edited	N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.