Global Variome shared LOVD

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

Phenotype #0000299749 Individual ID 00407412 Associated disease - Phenotype details best corrected visual acuity right/left eye: 0.1/0.2, refractive error (diopter): hyperopia (+ 5.5 / +6.0); fundus: not available, electroretinogram: minimal responses in 33 hz flicker, perimetry: concentric narrowing to 8deg, kidney findings: nephronophthisis, dialysis since age 50 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Leber congenital amaurosis Age/Examination 56y (56 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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