Global Variome shared LOVD

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Phenotype #0000307959 Individual ID 00416194 Associated disease - Phenotype details phenotyping data, right/left eye: axial length (mm): not available/not available ; visual acuity (LogMAR): 1; refraction (spherical equivalent):-3.75/-3.75; optical coherence tomography, baseline age: 26y, follow-up time: not available, ellipsoid zone grade (described in Sundaram et al.., 2014): 3/not available, ellipsoid zone width, baseline (um): 1058/not available, rate of EZ loss (um/year): not available/not available; fundus autofluorescence: not available; evidence of progression: not available Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite achromatopsia Age/Examination 26y (26 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-08-24 10:51:33 +02:00 (CEST) Date last edited N/A

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