Phenotype #0000188550

Individual ID 00249677
Associated disease ataxia
Diagnosis/Initial late-onset ataxia
Diagnosis/Definite CANVAS
Phenotype details peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); reduced; reduced sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)
Inheritance Familial, autosomal recessive
Age/Examination 50y (50 years)
Age/Onset 45y
Phenotype/Onset dizziness, later unsteadiness and falls
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen