Global Variome shared LOVD

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Phenotype #0000300957 Individual ID 00408837 Associated disease - Phenotype details bone spicule-like pigmentation in midperiphery of the retina, attenuated retinal arteriole, severe maculopathy, and disc pallor Diagnosis/Initial autosomal recessive retinitis pigmentosa (arRP) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset night blindness in early years Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-04-29 01:04:01 +02:00 (CEST) Date last edited N/A

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