Global Variome shared LOVD

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Phenotype #0000154801 Individual ID 00207011 Associated disease CLN Phenotype details From age 5-6 deterioration in fine and gross motor systems, speech and cognitive decline. Brain MRI demonstrating lack  of  cerebral  hemisphere  volume, hypomyelination  and  cerebellar  hypoplasia. No seizures or visual decline so far. No seizures or visual decline so far Diagnosis/Initial juvenile NCL Inheritance Familial, autosomal recessive Diagnosis/Definite CLN-2 Age/Examination - Age/Onset 5y6m 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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