Global Variome shared LOVD

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Phenotype #0000316126 Individual ID 00424927 Associated disease STGD Phenotype details best corrected visual acuity right/left eye: 0,06/0,06; atrophy size ellipsoid zones, right/left eye, mm: 4,56/5,1; central scotoma size right/left eye: 15deg/15deg; mean retinal sensitivity right/left eye (dB): 9,5/13,5; electroretinogram: normal Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Stargardt disease Age/Examination 32y (32 years) Age/Diagnosis - Age/Onset 37y Phenotype/Onset p.G1961E Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-11-23 14:48:30 +01:00 (CET) Date last edited N/A

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