Global Variome shared LOVD

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

Phenotype #0000257418 Individual ID 00334906 Associated disease Gaucher, atypical Phenotype details Onset age 8 of myoclonus. Associated with ataxia, horizontal gaze palsy, mild splenomegaly and mild intellectual disability. Progressive course, death age 19. Diagnosis/Initial Unverricht-Lundborg disease like 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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