Phenotype #0000125793

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00153083
Associated disease	CMS
Phenotype details	bilateral ptosis, strabismus, hyperlordosis, foot drop.
Diagnosis/Initial	syndrome, myasthenic, congenital
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	type 1 fiber predominance seen in muscle biopsy.
Owner name	Tom Winder
Database submission license	No license selected
Created by	Tom Winder
Date created	2012-10-19 17:20:02 +02:00 (CEST)
Date last edited	N/A

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