Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000188560 Individual ID 00249687 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) (constipation, urinary incontinence, impaired regulation of blood pressure); 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 65y (65 years) Age/Onset 48y Phenotype/Onset unsteadiness, numb hands Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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