Phenotype #0000300977

Individual ID 00408859
Associated disease -
Phenotype details VA: RE: Light perception LE: Hand movements, panretinal chorio- retinal atrophy, Pallor of the optic disc, severely attenuated vessels, abundant pigmentations in midperiphery and macula, RE: aphakia and corneal edema after cataract extraction LE: IOL
Diagnosis/Initial leber congenital amaurosis (LCA)
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 72y (72 years)
Age/Diagnosis <8y
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2022-04-29 01:04:01 +02:00 (CEST)
Date last edited N/A

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