Global Variome shared LOVD

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Phenotype #0000201550 Individual ID 00263105 Associated disease CLN Phenotype details generalized tonic–clonic seizures (HP:0002069), myoclonus (HP:0001336), no speech deterioration (-HP:0002167), no ataxia (-HP:0001251), no dementia (-HP:0000726) Diagnosis/Initial Kufs disease Inheritance Familial, autosomal dominant Diagnosis/Definite CLN-4B Age/Examination - Age/Onset 30y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-08-22 12:04:20 +02:00 (CEST) Date last edited N/A

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