Global Variome shared LOVD

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Phenotype #0000082612 Individual ID 00104697 Associated disease CLN Phenotype details see paper; ..., age at onset 13y/14y/13y/16y, granular osmiophilic deposits lamellar structures Diagnosis/Initial variant juvenile NCL Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Onset <17y 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 2017-05-19 16:31:56 +02:00 (CEST) Date last edited 2018-11-16 19:42:33 +01:00 (CET)

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