Phenotype #0000078456

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00024128
Associated disease	MYOP
Phenotype details	suspected mitochondrial myopathy manifested as progressive muscle weakness, hypotonia, seizures, poor weight gain, lactic acidosis
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	07y (7 years)
Age/Diagnosis	-
Age/Onset	02y
Phenotype/Onset	toe-walking, Gowers sign
Protein	-
Owner name	Johan den Dunnen
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2017-02-06 22:56:07 +01:00 (CET)
Date last edited	N/A

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