Global Variome shared LOVD

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Phenotype #0000291432 Individual ID 00398308 Associated disease - Phenotype details best-corrected visual acuity right/left eye: 0.1/0.1, refraction: 3.5/ 3.5, cone electroretinography: no response, color vision: not determined, photophobia, nystagmus Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Achromatopsia (non-classified) Age/Examination 6y (6 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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