Phenotype #0000161994

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00213540
Associated disease	CMYO4A;CFTD
Phenotype details	scoliosis, mild weakness of neck flexors, deltoids, finger extensors of hands, minimal contractures of fingers and Achilles tendons; walk-2y
Diagnosis/Initial	congenital fibre type disproportion
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	CFTD
Age/Examination	-
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	hypotonia
Protein	-
Owner name	Minttu Marttila
Database submission license
Created by	Johan den Dunnen
Date created	2013-08-28 11:58:56 +02:00 (CEST)
Date last edited	2013-08-31 16:30:00 +02:00 (CEST)

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