Global Variome shared LOVD

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Phenotype #0000154790 Individual ID 00207000 Associated disease CLN Phenotype details normal development. Onset 9-10 y.then regression. Loss of vision 12 y. Diagnosis/Initial juvenile NCL Inheritance Familial, autosomal recessive Diagnosis/Definite CLN-2 Age/Examination 14y (14 years) Age/Onset 9y Phenotype/Onset - Protein - Owner name Sara Mole Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-10-31 15:35:34 +01:00 (CET) Date last edited N/A

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