Global Variome shared LOVD

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Phenotype #0000170580 Individual ID 00225465 Associated disease - Phenotype details birth normal; early development normal; slow speech; normal motor development, 2y-deteriorated; normal but then started deteriorating at age 11 yeras; 11y-MRI cerebellar vermis atrophy; 11y-unsteady gait; phenotype exacerbated by illness and/or stress; 11y-myopathic changes on muscle biopsy Diagnosis/Initial neurodegenerative disorder Inheritance Familial, autosomal recessive Diagnosis/Definite CONDSIAS Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-02-17 09:44:27 +01:00 (CET) Date last edited 2021-12-08 21:23:38 +01:00 (CET)

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