Global Variome shared LOVD

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Phenotype #0000301050 Individual ID 00408932 Associated disease - Phenotype details Macular atrophy, RPE atrophy with salt and pepper aspect, some bone-spicule pigmentin the mid periphery. Nystagmus since birth, altered papillary reflexes Diagnosis/Initial leber congenital amaurosis (LCA) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 17y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-04-29 01:04:01 +02:00 (CEST) Date last edited N/A

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