Phenotype #0000188590

Individual ID 00249717
Associated disease ataxia
Diagnosis/Initial late-onset ataxia
Diagnosis/Definite CANVAS
Phenotype details peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); autonomic dysfunction (HP:0012332) (abnormal blood pressure control, abnormal bowel motility); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272)
Inheritance Familial, autosomal recessive
Age/Examination 64y (64 years)
Age/Onset 50y
Phenotype/Onset unsteadiness in the dark, numb hands
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen