Phenotype #0000084269

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00106465
Associated disease	MYOP
Phenotype details	Congenital myopathy; Hypotonic from birth. Knee flexion and hip flexion contractures, predominantly proximal weakness.; CPK: 38
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	-
Protein	-
Owner name	Thomas Cullup
Database submission license	No license selected
Created by	Thomas Cullup
Date created	2012-09-18 12:11:06 +02:00 (CEST)
Date last edited	N/A

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