Phenotype #0000359822

Individual ID 00475108
Associated disease ataxia
Diagnosis/Initial ataxia
Diagnosis/Definite SPAX11
Phenotype details see paper; ..., no developmental delay; ataxia; dysarthria; eye movements; no upper limb weakness; no lower limb weakness; no spasticity; no extensor planter reflex; increased deep tendon reflex; ankle clonus; cognitive decline; no bladder dysfunction; no amyotrophy; EMG normal; MRI brain cerebellar atrophy; disease progression slow
Inheritance Isolated (sporadic)
Age/Examination 32y (32 years)
Age/Onset 5y
Phenotype/Onset ataxia
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 2026-04-02 10:00:11 +02:00 (CEST)
Date last edited N/A

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