Global Variome shared LOVD

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

Phenotype #0000257406 Individual ID 00334907 Associated disease - Phenotype details Onset 12 years of infrequent TCS on background of normal development. Frequent myoclonus from 14 years, progressive ataxia, completely wheelchair bound at 17 years old. Normal vision and ophthalmology examination until 20 years old. Visual deterioration from 20 years old and cherry red spot seen at 21 years old. Normal cognition. 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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