Global Variome shared LOVD

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

Phenotype #0000257410 Individual ID 00334936 Associated disease PCH6 Phenotype details Onset 25 years of prominent progressive action myoclonus. Normal developmental history, normal cognition. No ataxia, no TCS. Scoliosis and ovarian insufficiency. Diagnosis/Initial late onset progressive myoclonus epilepsy 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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