Global Variome shared LOVD

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Phenotype #0000299745 Individual ID 00407408 Associated disease - Phenotype details best corrected visual acuity right/left eye: 0.01/0.01, refractive error (diopter): hyperopia (+5.0 / +4.0); fundus: granular fundus (salt-and-pepper pigmentation); macula and optic disc normal, electroretinogram: nondetectable (1 year), perimetry: not available, kidney findings: normal Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Leber congenital amaurosis Age/Examination 3y (3 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 2022-04-06 16:39:51 +02:00 (CEST) Date last edited N/A

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