Global Variome shared LOVD

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Phenotype #0000299761 Individual ID 00407592 Associated disease - Phenotype details 3y: best corrected visual acuity right, left eye: 20/1000, 20/1000, refraction (spherical equivalent): +9, electroretinogram: not detectable, renal disease: none; 12y: best corrected visual acuity right, left eye: hand motions, hand motions, refraction (spherical equivalent): +5, electroretinogram: not performed, renal disease: none; 19y: best corrected visual acuity right, left eye: light perception, light perception, electroretinogram: not performed, renal disease: elevated creatinine level 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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