Global Variome shared LOVD

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Phenotype #0000355478 Individual ID 00470329 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; ..., 10y-gait abnormalities, proximal muscle weakness, positive Gower’s sign; increasing muscle weakness, ataxia, light tremor, dysdiadochokinesis; scoliosis, confined to wheelchair and later confined to bed; dysphagia, dysarthria; 16y-cerebral atrophy, cerebellar atrophy Inheritance Isolated (sporadic) Age/Examination 16y (16 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 2025-12-01 11:59:22 +01:00 (CET) Date last edited N/A

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