Global Variome shared LOVD

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Phenotype #0000255695 Individual ID 00360290 Associated disease - Phenotype details visual acuity: OD = counting fingers OS = 0.16. Funduscopy: Atrophy of the RPE in the posterior pole. Fewer drusen compared with her twin sister II-10, the more centrally located drusen are larger. Diagnosis/Initial central areolar choroidal dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 43y Phenotype/Onset - Protein - Owner name Manon Peeters Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-04-06 16:50:09 +02:00 (CEST) Date last edited N/A

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