Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000300973 Individual ID 00408855 Associated disease - Phenotype details VA: 2/60, macular atrophy, Macular pseudocolo- boma with hyperpig- mented border, pink optic discs, subtle RPE changes in periphery Diagnosis/Initial leber congenital amaurosis (LCA) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 7y (7 years) Age/Diagnosis 6m Age/Onset - 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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