Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000078456 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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