Global Variome shared LOVD

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Phenotype #0000300975 Individual ID 00408857 Associated disease - Phenotype details VA: No light perception, Temporal parapapillary chorioretinal lacunar atro- phies, heavy pigmentations in periphery, Keratoconus in both eyes, RE enucleated due to corneal pain Diagnosis/Initial leber congenital amaurosis (LCA) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 64y (64 years) Age/Diagnosis 12m 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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