Global Variome shared LOVD

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Phenotype #0000253982 Individual ID 00358767 Associated disease OCMD Phenotype details ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography blurring ellipsoid zone, absence interdigitation zone Diagnosis/Initial occult macular dystrophy Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 52y (52 years) Age/Diagnosis - Age/Onset 48y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-03-11 17:30:37 +01:00 (CET) Date last edited N/A

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