Phenotype #0000188571

Individual ID 00249698
Associated disease ataxia
Diagnosis/Initial late-onset ataxia
Diagnosis/Definite CANVAS
Phenotype details peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (urinary dysfunction); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; no cerebellar atrophy (-HP:0001272)
Inheritance Familial, autosomal recessive
Age/Examination 65y (65 years)
Age/Onset 45y
Phenotype/Onset numbness
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 2019-08-02 10:39:39 +02:00 (CEST)
Date last edited N/A

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