Phenotype #0000359819

Individual ID 00475105
Associated disease ataxia
Diagnosis/Initial ataxia
Diagnosis/Definite SPAX11
Phenotype details see paper; ..., no developmental delay; ataxia; dysarthria; saccadic pursuit; no upper limb weakness; no lower limb weakness; no spasticity; no extensor planter reflex; normal deep tendon reflex; no ankle clonus; no cognitive decline; no bladder dysfunction; no amyotrophy; EMG myopathic signs; MRI brain cerebellar atrophy; increased CPK level; disease progression moderate
Inheritance Isolated (sporadic)
Age/Examination 36y (36 years)
Age/Onset 24y
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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