Global Variome shared LOVD

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Phenotype #0000284219 Individual ID 00390731 Associated disease - Phenotype details Visual acuity right eye/left eye: 7/10_6/10, few bone spicule shaped pigment deposits and white dot deposits in the mid periphery narrowing of the vessels. waxy optic discs, normal macula Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 21y (21 years) Age/Diagnosis - Age/Onset 5y 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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