Global Variome shared LOVD

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Phenotype #0000357969 Individual ID 00473174 Associated disease paraplegia Diagnosis/Initial hereditary paraplegia Diagnosis/Definite - Phenotype details parents onset 8y , frequent falling, climbing difficulty, spastic gait, proximal upper and lower muscle weakness, hyperreflexia (increased DTR), neurogenic changes reported in EMG/NCV, normal brain MRI and normal CPK. Inheritance Familial, autosomal recessive Age/Examination 19y (19 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - 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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