Global Variome shared LOVD

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Phenotype #0000350714 Individual ID 00464729 Associated disease macular dystrophy Phenotype details macular dystrophy; reduced central vision, photophobia, nyctalopia; extensive central chorioretinal atrophy; polyneuropathy; hearing loss (onset later in life) Diagnosis/Initial macular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 68y (68 years) Age/Diagnosis - Age/Onset 55y Phenotype/Onset reduced central vision, photophobia, nyctalopia Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-04-14 14:18:03 +02:00 (CEST) Date last edited N/A

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