Global Variome shared LOVD

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Phenotype #0000332784 Individual ID 00443443 Associated disease ? Diagnosis/Initial walking difficulties Diagnosis/Definite - Phenotype details see paper; ..., 45y-progressing walking difficulties, resulting in inability to run, give up playing golf; stiffness, difficulty in walking/running, recurrent falls; 68y-bilateral spastic paraplegia lower limbs associated with pyramidal weakness, brisk reflexes, upward plantars, neurogenic bladder/bowel, able to mobilize independently, uses functional electrical stimulator Inheritance Familial, autosomal recessive Age/Examination 68y (68 years) Age/Diagnosis - Age/Onset 45y Phenotype/Onset walking difficulties Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-11-26 14:02:01 +01:00 (CET) Date last edited N/A

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