Global Variome shared LOVD

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Phenotype #0000353176 Individual ID 00468024 Associated disease SCA Phenotype details see paper; ..., slowly progressive cerebellar atrophy; 1d-nystagmus; ataxia; postural tremor; slurred speech; no dysphagia; general hypotonia; oculomotor apraxia; no pyramidal sign; no extra pyramidal sign; no peripheral neuropathy; no epileptic seizures; moderate intellectual disability, speech two-word sentences; 3m-head control; 2y2m-sit; unable to stand with support; 12y-walks (unstable); MRI brain atrophy (diffuse cortical), vermis anterior dominant, brainstem atrophy pontine tegmentum, normal  cerebrum; no deterioration Diagnosis/Initial childhood-onset cerebellar ataxia Inheritance Isolated (sporadic) Diagnosis/Definite SCA29 Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset 1d Phenotype/Onset vertical nystagmus Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-11-06 16:42:01 +01:00 (CET) Date last edited N/A

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