Global Variome shared LOVD

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Phenotype #0000300265 Individual ID 00408136 Associated disease - Phenotype details age at 1st exam: 1y4m; best corrected visual acuity right/left eye: no pursuit of light / no pursuit of light; fundus changes: attenuated vessels, tapetoretinal degeneration, electroretinogram rods/cones: extinguish Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite Leber congenital amaurosis Age/Examination - Age/Diagnosis - Age/Onset 7m Phenotype/Onset poor vision or no pursuit of objects, ocular digital sign, 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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