Global Variome shared LOVD

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Phenotype #0000333608 Individual ID 00444355 Associated disease RD Phenotype details see paper; ..., retinal degeneration, bilateral microcornea, cataract, iris/chorioretinal coloboma; patent ductus arteriosus; 55y-sister retinal dystrophy, severe acne Diagnosis/Initial retinal dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite RDCCAS Age/Examination 63y (63 years) Age/Diagnosis - Age/Onset - 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 2023-12-22 19:32:17 +01:00 (CET) Date last edited N/A

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