Global Variome shared LOVD

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Phenotype #0000291335 Individual ID 00398224 Associated disease - Phenotype details best-corrected visual acuity right/left eye: 0.1/0.2, electroretinogram extinguished, nystagmus, no cataract, strabismus, no keratoconus, no oculodigital sign Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Leber congenital amaurosis Age/Examination 28y (28 years) Age/Diagnosis - Age/Onset 0m Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-01-01 19:27:57 +01:00 (CET) Date last edited N/A

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