Phenotype #0000161995

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00213541
Associated disease	CMYO4A;CFTD
Phenotype details	facial weakness, high-arched palate
Diagnosis/Initial	congenital fibre type disproportion
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	CFTD
Age/Examination	-
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	severe hypotonia, respiratory failure
Protein	-
Owner name	Minttu Marttila
Database submission license
Created by	Johan den Dunnen
Date created	2013-08-28 12:08:19 +02:00 (CEST)
Date last edited	2013-08-31 16:33:35 +02:00 (CEST)

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