Global Variome shared LOVD

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Phenotype #0000353190 Individual ID 00468038 Associated disease SCA Phenotype details see paper; ..., 6m-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; no intellectual disability; 12m-head control; 2y-sit; 3y-stand; 5y-walk; MRI brain cerebellar and/or vermis atrophy, normal brainstem, normal cerebrum, no deterioration, cerebellar atrophy Diagnosis/Initial neonatal hypotonia Inheritance Familial, autosomal recessive Diagnosis/Definite SCA29 Age/Examination 28y (28 years) Age/Diagnosis - Age/Onset 1d Phenotype/Onset neonatal hypotonia Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-11-07 10:13:33 +01:00 (CET) Date last edited N/A

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