Global Variome shared LOVD

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Phenotype #0000319043 Individual ID 00428106 Associated disease SCA Phenotype details see paper; ..., works as cleaner; child seizures; intellectual disability, special school for learning disabilities; became unsteady while standing with eyes closed; unable keep balance standing on one foot catching ball; sensory modalities normal; deep tendon reflexes slightly increased, plantar reflexes equivocal; high arched feet; EMG normal Diagnosis/Initial spinocerebellar ataxia Inheritance Familial, autosomal dominant Diagnosis/Definite SCA27 Age/Examination 42y (42 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 2022-12-21 16:52:30 +01:00 (CET) Date last edited 2022-12-21 17:29:35 +01:00 (CET)

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