Global Variome shared LOVD

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Phenotype #0000307568 Individual ID 00415790 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/400, 20/400; nystagmus: severe; photophobia, no colour vision; cone electroretinogram: no response; fundus: normal Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite complete achromatopsia Age/Examination 15y (15 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 2022-08-16 12:24:58 +02:00 (CEST) Date last edited N/A

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