Global Variome shared LOVD

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Phenotype #0000302602 Individual ID 00410498 Associated disease - Phenotype details decade of life: 50s; presenting symptoms (duration of symptoms, years): photophobia, central visual loss (14y); visual acuity, logMAR: 0.2, 0.6; severity of phenotype: mild macular dystrophy; other ophthalmic features: none Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite cone-rod dystrophy Age/Examination 40y (40 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-27 19:56:51 +02:00 (CEST) Date last edited N/A

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