Global Variome shared LOVD

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Phenotype #0000358854 Individual ID 00474054 Associated disease RD Phenotype details see paper; ..., static perimetry (BE): annular scotoma with central preserved window (68); Very mild fundus changes with RPE irregularities, pathology is apparent predominantly on SD-OCTand FAF (68); obesity (BMI 37); hypertension (66y); diabetes Type II (<58y) Diagnosis/Initial cone-rod dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 68y (68 years) Age/Diagnosis - Age/Onset 40y 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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