Phenotype #0000221948

Global Variome shared LOVD

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

Individual ID	00288211
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	decreased muscle tone, hypotonia, muscle weakness, gowers sign, myopathy, shoulder girdle muscle atrophy, difficulty walking, difficulty climbing stairs, frequent falls, abnormal gait
Inheritance	Familial
Age/Examination	45y (45 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-02-16 14:03:09 +01:00 (CET)
Date last edited	N/A

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