Phenotype #0000319056

Individual ID 00428120
Associated disease SCA
Phenotype details cerebellar ataxia, bilateral vestibulopathy, autonomic nervous system and hyper-reflexia; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no truncal ataxia (-HP:0002078); cerebellar dysarthria (HP:0001260); bilateral hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; autonomic nervous system dysfunction (HP:0002270); MRI brain anterior and posterior vermal, mild hemispheric atrophy; lower limb hyper-reflexia
Diagnosis/Initial ataxia
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 68y (68 years)
Age/Diagnosis -
Age/Onset 58y
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 2022-12-22 12:23:36 +01:00 (CET)
Date last edited N/A

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