Global Variome shared LOVD

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

Phenotype #0000357991 Individual ID 00473196 Associated disease ? Diagnosis/Initial mitochondrial disease Diagnosis/Definite - Phenotype details onset 48y, Facial weakness, bilateral ptosis; Hypotonia; Proximal muscle weakness & wasting; Dysarthria; Single fiber EMG: suggestive of mild neuromuscular junction disorder; Muscle biopsy: suggestive of mitochondrial myopathies; Brain MRI: suggestive of ischemia of atherosclerotic micro-vascular occlusive disease. Inheritance Unknown Age/Examination 63y (63 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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