Global Variome shared LOVD

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Phenotype #0000358046 Individual ID 00473251 Associated disease paraplegia Diagnosis/Initial hereditary paraplegia Diagnosis/Definite - Phenotype details two affected siblings, onset 11y , spastic gait , frequent falling, lower limb spasticity and weakness,pes cavus, dysarthria, shortening achill tendon (releasing in age 13y ) chronic neurogenic changes in lower limb with possible mild anterior horn cell disease reported in EMG/NCV ,brain MRI normal( mild asymmetric right ventricle dilation as a normal variation),normal report of MR spectroscopy , normal cervical and thoricic MRI. Inheritance Unknown Age/Examination 17y (17 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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