Global Variome shared LOVD

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Phenotype #0000319037 Individual ID 00428092 Associated disease SCA Phenotype details see paper; ..., mild mental retardation (IQ 70), inborn strabismus, red–green color vision defect; <12y-motor development normal; 12y-slowly progressing gait disturbances, memory loss, depressive mood; 13y-truncalataxia, gait ataxia, small-amplitude tremor both hands, gaze-evoked nystagmus, pes cavus; mild sensory axonal neuropathy; MRI brain normal; father gait disturbances, memory loss, pes cavus, died of anaplastic astrocytoma Diagnosis/Initial spinocerebellar ataxia Inheritance Familial, autosomal dominant Diagnosis/Definite SCA27 Age/Examination 18y (18 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 16:16:12 +01:00 (CET) Date last edited N/A

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