Global Variome shared LOVD

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Phenotype #0000303695 Individual ID 00411668 Associated disease - Phenotype details Inferior circular chorioretinal atrophy, hypopigmented spots throughout fundus, waxy pallor of optic nerve head; Macular and nasal patchy hypo AF reaching to the vascular arcades Diagnosis/Initial Autosomal recessive retinitis pigmentosa (arRP) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 47y (47 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 2022-06-18 03:05:08 +02:00 (CEST) Date last edited N/A

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