Global Variome shared LOVD

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Phenotype #0000302612 Individual ID 00410508 Associated disease - Phenotype details decade of life: 50s; presenting symptoms (duration of symptoms, years): photophobia, central visual loss (40y); visual acuity, logMAR: hand movement both eyes; severity of phenotype: severe panretinal dystrophy; other ophthalmic features: oscillopsia; cataract in right eye; intraocular lens implant in left eye Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite cone-rod dystrophy Age/Examination 12y (12 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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