Global Variome shared LOVD

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Phenotype #0000291380 Individual ID 00398256 Associated disease - Phenotype details best-corrected visual acuity right/left eye: 0.05/0.05, refraction: 1.25/1.5, cone electroretinography: no response, color vision: none, photophobia, nystagmus Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Complete achromatopsia Age/Examination 62y (62 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 2022-01-03 16:29:56 +01:00 (CET) Date last edited N/A

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