Global Variome shared LOVD

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Phenotype #0000357835 Individual ID 00473040 Associated disease paraplegia Diagnosis/Initial hereditary paraplegia Diagnosis/Definite - Phenotype details onset 15y with Ataxia & Dysarthria; Difficulty walking; Quadriplegia (Quadriparesis); Loss of ambulation 16y, Decreased muscle mass; Spasticity; Seizures; Dysphagia; Lower limbs stiffness; Mental regression & progressive dementia; Progressive neuropathy; Pes cavus, bilateral; Claw toes; Thoracolumbar spine MRI: mild thoracic cord atrophic changes; EMG-NCV: UMN lesion which involves lower limbs. Inheritance Unknown Age/Examination 15y (15 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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