Global Variome shared LOVD

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Phenotype #0000300266 Individual ID 00408137 Associated disease - Phenotype details age at 1st exam: 13y; best corrected visual acuity right/left eye: light perception / light perception; fundus changes: attenuated vessels, yellowish-white mottled degeneration in midperipheral retina, a few tiny pepper-powder like pigmentation, electroretinogram rods/cones: extinguish Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite Leber congenital amaurosis Age/Examination - Age/Diagnosis - Age/Onset <1y Phenotype/Onset poor vision or no pursuit of objects, roving nystagmus Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-14 16:40:13 +02:00 (CEST) Date last edited N/A

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