Global Variome shared LOVD

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Phenotype #0000293332 Individual ID 00400293 Associated disease - Phenotype details best-corrected visual acuity right/left eye (OD/OS): 0.3/0.2, cataract: yes (50y), macular degeneration: severe, optic disc: waxy, artery attenuation, pigment deposits, electroretinography: signi���cantly reduced<5deg/<5deg, hearing undetectable ( Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Retinitis pigmentosa Age/Examination 57y (57 years) Age/Diagnosis - Age/Onset - Phenotype/Onset Visual acuity decline (45y) Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-01-26 14:10:36 +01:00 (CET) Date last edited N/A

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