Phenotype #0000355372

Individual ID 00470227
Associated disease ?
Diagnosis/Initial ataxia
Diagnosis/Definite SANDO
Phenotype details see paper; ..., prorioceptive ataxia; pure sensory polyneuropathy; ptosis; ophthalmoparesis; no dysarthria; no dysphagia; no seizure; proximal muscle weakness; no deafness; no migraine; no movement disorders; no depression; no gastro-intestinal dysmotility
Inheritance Familial, autosomal recessive
Age/Examination 57y (57 years)
Age/Diagnosis -
Age/Onset 20y
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2025-11-29 09:23:48 +01:00 (CET)
Date last edited N/A

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