Phenotype #0000359826

Individual ID 00475112
Associated disease ataxia
Diagnosis/Initial spastic gait
Diagnosis/Definite SPAX11
Phenotype details see paper; ..., no developmental delay; no ataxia; no eye movements; no upper limb weakness; lower limb weakness; spasticity; extensor planter reflex; increased deep tendon reflex; ankle clonus; cognitive decline; bladder dysfunction; no amyotrophy; EMG perturbed; MRI brain vascular insult; cirrhosis; disease progression fast
Inheritance Unknown
Age/Examination 51y (51 years)
Age/Onset 45y
Phenotype/Onset spastic gait
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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