Phenotype #0000357733

Individual ID 00472938
Associated disease ataxia
Diagnosis/Initial hereditary ataxia
Diagnosis/Definite -
Phenotype details Childhood onset; Nystagmus; Delayed motor milestone; Imbalance; Ataxic gait; Abnormal ABR study; Normal EEG; Brain MRI: few non-specific high signal foci in subcortical in both cerebral hemispheres.
Inheritance Unknown
Age/Examination 17y (17 years)
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2026-03-06 17:24:40 +01:00 (CET)
Date last edited N/A

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