Global Variome shared LOVD

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Phenotype #0000357926 Individual ID 00473131 Associated disease paraplegia Diagnosis/Initial hereditary paraplegia Diagnosis/Definite - Phenotype details onset 50y with hypoaesthesia & numbness; Progressive muscle weakness, lower>upper limbs; Muscle cramps; Frequent falls; Limbs spasticity, lower>upper; Abnormal gait, spastic; Imbalance; Dysphagia; Mild scoliosis; Coronary artery stenosis; Brain MRI: Encephalomalacia with surrounding gliosis in Rt. parietal lobe; EMG-NCV: suggestive of active motor neuron disease. Inheritance Unknown Age/Examination 58y (58 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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