Global Variome shared LOVD

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Phenotype #0000278862 Individual ID 00385078 Associated disease - Phenotype details photophobia, no nystagmus, oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: 0.25/0.25 Diagnosis/Initial Leber congenital amaurosis Inheritance Isolated (sporadic) Diagnosis/Definite Leber congenital amaurosis Age/Examination 5y6m (5 years, 6 months) Age/Diagnosis - Age/Onset 1y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2021-10-06 17:52:46 +02:00 (CEST) Date last edited N/A

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