Global Variome shared LOVD

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Phenotype #0000271952 Individual ID 00376741 Associated disease - Phenotype details Extensive macular RPE atrophy ""and abnormal pigmentation LE.RE.surrounded by a ring of high density. Narrow Occasional scattered peripheral bridge of RPE sparing over"" bone-spicule pigmentation central macula of RE Diagnosis/Initial cone–rod dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 30y (30 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2021-06-25 10:31:56 +02:00 (CEST) Date last edited N/A

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