Global Variome shared LOVD

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Phenotype #0000284223 Individual ID 00390735 Associated disease - Phenotype details Visual acuity right eye/left eye: 10/10_10/10, rare bone spicule shaped pigment deposits in mid periphery, normal macula Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 28y (28 years) Age/Diagnosis - Age/Onset 18y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2021-11-11 19:27:39 +01:00 (CET) Date last edited N/A

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