Global Variome shared LOVD

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Phenotype #0000298875 Individual ID 00406388 Associated disease - Phenotype details best corrected visual acuity: 5/160, non-recordable electroretinogram, optic atrophy, diffuse vascular attenuation and retinal atrophy with midperiheral bone spicules Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Leber congenital amaurosis Age/Examination - 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 2022-03-29 19:09:00 +02:00 (CEST) Date last edited N/A

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