Global Variome shared LOVD

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

Phenotype #0000299762 Individual ID 00407593 Associated disease - Phenotype details 1y: best corrected visual acuity right, left eye: 20/260, 20/290, refraction (spherical equivalent): +6.5, electroretinogram: not detectable, renal disease: none; 3y: best corrected visual acuity right, left eye: light perception, light perception Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Leber congenital amaurosis Age/Examination - 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 2022-04-06 19:14:38 +02:00 (CEST) Date last edited N/A

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