Phenotype #0000359830

Individual ID 00475116
Associated disease ataxia
Diagnosis/Initial spastic ataxia
Diagnosis/Definite SPAX11
Phenotype details see paper; ..., no developmental delay; ataxia; no eye movements; upper limb weakness; lower limb weakness; spasticity; no extensor planter reflex; increased deep tendon reflex; no ankle clonus; no cognitive decline; no bladder dysfunction; amyotrophy; MRI brain normal; disease progression slow
Inheritance Unknown
Age/Examination 62y (62 years)
Age/Onset 54y
Phenotype/Onset spastic 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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