Phenotype #0000084284

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00106480
Associated disease	MYOP
Phenotype details	congenital myopathy with CFTD; decreased fetal movements, hypotonia, delayed motor milestones, joint laxity; muscle weakness: facial, axial, proximal mostly; CPK: normal
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	>1m
Phenotype/Onset	-
Protein	-
Owner name	Thomas Cullup
Database submission license	No license selected
Created by	Thomas Cullup
Date created	2013-01-31 17:43:45 +01:00 (CET)
Date last edited	2013-01-31 21:33:36 +01:00 (CET)

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