Global Variome shared LOVD

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Phenotype #0000358365 Individual ID 00473570 Associated disease paraplegia Diagnosis/Initial hereditary paraplegia Diagnosis/Definite - Phenotype details Developmental delay, Speech impairment, Mental retardation, Seizures, Abnormal gait, Lower limb spasticity, Upper limb spasticity, mild Inheritance Familial, autosomal recessive Age/Examination 9y (9 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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