Global Variome shared LOVD

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Phenotype #0000332762 Individual ID 00443421 Associated disease ? Diagnosis/Initial infantile ascending hereditary spastic paraplegia Diagnosis/Definite IAHSP Phenotype details muscle spasticity, progressive loss of movement, bending of hands and feet, dysarthria, dysphagia, muscular atrophy, no cognitive deficit Inheritance Familial, autosomal recessive Age/Examination 24y (24 years) Age/Diagnosis - Age/Onset 1y6m Phenotype/Onset - 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 13:31:49 +01:00 (CET) Date last edited N/A

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