Global Variome shared LOVD

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Phenotype #0000222985 Individual ID 00289372 Associated disease brain calcification Diagnosis/Initial brain calcification Diagnosis/Definite - Phenotype details normal birth and early milestones; onset childhood, cerebellar ataxia, cognitive decline; pyramidal syndrome (increased tone, brisk reflexes, upgoing plantars); cerebellar syndrome (upper and lower limb ataxia, dysarthria, nystagmus); Parkinsonism rigidity, bradykinesia.; dystonia generalized; seizures, ophthalmoplegia, PEG inserted in advance stage; severe cognitive decline; MRI brain basal ganglia, thalamus, cerebellum, deep gray matter Inheritance Familial, autosomal recessive Age/Examination 24y (24 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 2020-03-07 20:12:27 +01:00 (CET) Date last edited N/A

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