Phenotype #0000188563

Individual ID 00249690
Associated disease ataxia
Diagnosis/Initial late-onset ataxia
Diagnosis/Definite CANVAS
Phenotype details peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (urinary urgency); cough (HP:0012735); reduced; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)
Inheritance Familial, autosomal recessive
Age/Examination 74y (74 years)
Age/Onset 54y
Phenotype/Onset unsteadiness, pain
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen