Global Variome shared LOVD

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Phenotype #0000291812 Individual ID 00398730 Associated disease - Phenotype details visual acuity: 0.1, electroretinogram, dark adapted rod response (b, µV) 300; dark adapted mixed rod-cone (average): a:225/b:400, light adapted 30Hz cone flicker: nondetectabl Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite achromatopsia Age/Examination 12y (12 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 2022-01-10 12:03:07 +01:00 (CET) Date last edited N/A

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