Global Variome shared LOVD

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Phenotype #0000352986 Individual ID 00467832 Associated disease - Phenotype details see paper; ..., BVCA right 20/150 , left 20/150+1; low vision from cone–rod dystrophy; hyperopia, nystagmus, astigmatism, intermittent exotropia OU, progressive cone–rod dystrophy Diagnosis/Initial cone–rod dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite RDMS Age/Examination 1y (1 year) Age/Diagnosis - Age/Onset 9y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-10-31 22:30:31 +01:00 (CET) Date last edited N/A

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