Phenotype #0000239242

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00315491
Associated disease	MYOP
Diagnosis/Initial	myopathy
Diagnosis/Definite	-
Phenotype details	see paper; onset birth; distal lower limb atrophy; muscle weakness upper limb flexors MRC 4/5, lower limb proximal MRC 3/5, Gowers sign; DTR absent in lower limb; no joint contractures; pes cavus, scapular winging, lordosis, high-arched palate; myopathic face, ...
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-10-27 09:56:44 +01:00 (CET)
Date last edited	N/A

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