Phenotype #0000073593

Global Variome shared LOVD

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

Individual ID	00095189
Associated disease	GSD3
Phenotype details	weakness : distal and proximal, upper and lower limbs perdominaltly distal upper limbs severe axial and mild neck weakness, foot drop achilles contracture, atrophy in deltoid, supraspinatus and intrinsic hand muscles
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	48y
Age/Onset	24y
Phenotype/Onset	-
Protein	-
Owner name	François Petit
Database submission license	No license selected
Created by	François Petit
Date created	2017-01-11 10:53:58 +01:00 (CET)
Date last edited	2017-01-11 15:38:48 +01:00 (CET)

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