Phenotype #0000162052

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00213598
Associated disease	MYOP
Phenotype details	scapular amyotrophy, lumbar lordosis, myopathic facies, patellar areflexia; walk-2y6m
Diagnosis/Initial	congenital myopathy
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
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	2013-09-01 08:00:48 +02:00 (CEST)
Date last edited	2013-09-02 20:01:37 +02:00 (CEST)

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