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 InternationalCreative Commons License
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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