Global Variome shared LOVD

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Phenotype #0000281746 Individual ID 00388153 Associated disease - Phenotype details Nystagmus: 4Hz pendular bilateral symmetric, best corrected visual acuity right eye/left eye: CSM/CSM, fundus: Coloboma like lesion at macula & Pigmentary retinopathy, ERG: Extinguished Diagnosis/Initial Leber congenital amaurosis Inheritance Unknown Diagnosis/Definite Leber congenital amaurosis Age/Examination 4y0m (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2021-11-02 11:59:44 +01:00 (CET) Date last edited N/A

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