Phenotype #0000359829

Individual ID 00475115
Associated disease ataxia
Diagnosis/Initial ataxia
Diagnosis/Definite SPAX11
Phenotype details see paper; ..., no developmental delay; ataxia; dysarthria; nystagmus; no upper limb weakness; no lower limb weakness; spasticity; extensor planter reflex; increased deep tendon reflex; ankle clonus; no cognitive decline; bladder dysfunction; no amyotrophy; EMG normal; MRI brain cerebellar atrophy; disease progression slow
Inheritance Unknown
Age/Examination 20y (20 years)
Age/Onset 10y
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

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.