Global Variome shared LOVD

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Phenotype #0000358853 Individual ID 00474053 Associated disease RD Phenotype details see paper; ..., static perimetry (BE): diffuse decrease of sensitivity with absolute scotomas in the central visual field irregularly extending to the periphery (63); Diffuse chorioretinal atrophy, Bruch membrane folds (63); Obesity (BMI 40); hypertension (40y); dyslipidemia (66y); 62y-bipolar disorder Diagnosis/Initial cone-rod dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 63y (63 years) Age/Diagnosis - Age/Onset 43y 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 2026-03-09 21:39:27 +01:00 (CET) Date last edited N/A

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