Global Variome shared LOVD

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Phenotype #0000300207 Individual ID 00408079 Associated disease - Phenotype details night blindness by the age of 3y; visual field progressively constricted to become tubular; fundus: initially normal and gradually displayed a salt and pepper appearance with a reduction in blood vessel diameter and a typical appearance of RP rapidly progressing to retinal atrophy Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Leber congenital amaurosis Age/Examination 25y (25 years) 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 2022-04-13 15:04:56 +02:00 (CEST) Date last edited N/A

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