Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000291822 Individual ID 00398740 Associated disease - Phenotype details visual acuity; refraction right/left eye: 0.1/0.1; -2.75/-3.50 , electroretinogram: nonrecordable, color vision: absent Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite achromatopsia Age/Examination 30y (30 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 2022-01-11 12:52:22 +01:00 (CET) Date last edited N/A

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