Global Variome shared LOVD

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Phenotype #0000287564 Individual ID 00394360 Associated disease - Phenotype details Visual impairment 5 y, diagnosed with retinal degeneration 8 y, electroretinogram consistent with RP Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Batten disease Age/Examination - Age/Diagnosis 8y Age/Onset 5y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2021-12-01 10:17:04 +01:00 (CET) Date last edited N/A

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