Global Variome shared LOVD

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Phenotype #0000296002 Individual ID 00403260 Associated disease - Phenotype details nystagmus, normal visual attention, and a normal fundus exam. ERG responses were severely decreased Diagnosis/Initial Leber congenital amaurosis (LCA) Inheritance Familial, X-linked Diagnosis/Definite congenital stationary night blindness (CSNB2) Age/Examination 3m Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-02-18 11:06:34 +01:00 (CET) Date last edited N/A

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