Phenotype #0000020184

Global Variome shared LOVD

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

Individual ID	00022414
Associated disease	MEOAL;MMDS8
Phenotype details	myopathy characterized by proximal muscle weakness, severe amyotrophy, excessive fatigability, dysarthria, paresis of facial muscles and ptosis
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	>34y (later than 34 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Arnaud Vanlander
Database submission license	No license selected
Created by	Arnaud Vanlander
Date created	2014-10-10 22:31:07 +02:00 (CEST)
Date last edited	2014-10-11 12:15:59 +02:00 (CEST)

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