Global Variome shared LOVD

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Phenotype #0000300981 Individual ID 00408863 Associated disease - Phenotype details severe visual impairment, nystagmus, central atrophy of the pigment epithelium, and pigment clumping in the periphery before the age of 6 months. Retinal vessels were attenuated, hyperopic. Diagnosis/Initial leber congenital amaurosis (LCA) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis 1m Age/Onset - Phenotype/Onset chorioretinal atrophy 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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