Global Variome shared LOVD

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Phenotype #0000357698 Individual ID 00472903 Associated disease SPG10 Phenotype details Gait disturbance since birth; mother and brother also affected. Required orthopedic shoes as a child; unable to run. Worsening gait for over 10 years, with increased clumsiness in the right leg. Denies sensory disturbances. Diagnosis/Initial Gait disturbance Inheritance Familial, autosomal dominant Diagnosis/Definite Spastic paraplegia 10, autosomal dominant Age/Examination 36? Age/Diagnosis 46y Age/Onset 05y Phenotype/Onset Chilhood onset Protein - Owner name Maria Elena García Paya Database submission license Creative Commons Attribution 4.0 International Created by Maria Elena García Paya Date created 2026-03-06 11:19:20 +01:00 (CET) Date last edited 2026-03-09 09:20:32 +01:00 (CET)

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