Global Variome shared LOVD

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Phenotype #0000300009 Individual ID 00407879 Associated disease - Phenotype details best corrected visual acuity right/left eye: counting fingers, fundus: hyperpigmentation of the retina, electroretinogram: extinguished in both eyes, other symptoms: nystagmus Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 5y (5 years) Age/Diagnosis - Age/Onset 0m Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-09 22:56:34 +02:00 (CEST) Date last edited N/A

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