Global Variome shared LOVD

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

Phenotype #0000154787 Individual ID 00206997 Associated disease CLN Phenotype details impaired motor funcation, cerebellar and cerebral atrophy, progressive visual loss and seizures Diagnosis/Initial late infantile NCL Inheritance Familial, autosomal recessive Diagnosis/Definite CLN-2 Age/Examination - Age/Onset - 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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