Global Variome shared LOVD

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

Phenotype #0000257419 Individual ID 00334878 Associated disease DD Phenotype details Onset age 21 of tremor, daily myoclonus from 35 years of age, slowly progressive ataxia from 37 years of age. Single TCS. Normal developmental history, normal cognition. Multiple co-morbidities including bilateral deafness, cataracts, retinal dystrophy, dolicocolon, atonic bladder, hashimoto's thyroiditis, polycystic kidney disease. MRI: cerebellar atrophy. Diagnosis/Initial late onset progressive myoclonus epilepsy Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2021-04-14 09:14:49 +02:00 (CEST) Date last edited N/A

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