Global Variome shared LOVD

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Phenotype #0000285631 Individual ID 00392355 Associated disease - Phenotype details best corrected visual acuity right/left eye: 0.4/0.8, electroretinograhy responses: rod absent, severe defect of cone function Diagnosis/Initial Retinitis pigmentosa, autosomal dominant Inheritance Familial, autosomal dominant Diagnosis/Definite Retinitis pigmentosa, autosomal dominant Age/Examination 44y (44 years) Age/Diagnosis - Age/Onset 39y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2021-11-22 16:18:49 +01:00 (CET) Date last edited N/A

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