Global Variome shared LOVD

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Phenotype #0000319042 Individual ID 00428105 Associated disease SCA Phenotype details see paper; ..., birth-psychomotor delay, microcephaly; 1y-cerebellar dysfunction, truncal unsteadiness, progressed to gait ataxia, axial tremor with titubation of head /neck, action/intention tremor, dysarthria; no nystagmus; open mouth, drooling Diagnosis/Initial spinocerebellar ataxia Inheritance Familial, autosomal dominant Diagnosis/Definite SCA27 Age/Examination 05y06m (5 years, 6 months) 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 N/A

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