Global Variome shared LOVD

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

Phenotype #0000257411 Individual ID 00334904 Associated disease EPM6 Phenotype details Onset age 14 of ataxia. Severe myoclonus from age 32, TCS, moderate dementia. Dysphagia and pyramidal signs noted. Psychiatric co-morbidities. Severe cerebral, moderate cerebellar atrophy. EEG: photoparoxysmal response. Diagnosis/Initial progressive myoclonus epilepsy , dementia Inheritance Familial, autosomal recessive 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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