Global Variome shared LOVD

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

Phenotype #0000253545 Individual ID 00335625 Associated disease - Phenotype details Nystagmus; Keratoconus; Pink optic disc; narrowing of arterioles; foveal reflex normal; minimal mottling of RPE in the mid- and far periphery () Diagnosis/Initial Leber’s congenital amaurosis (LCA) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 23y (23 years) Age/Diagnosis - Age/Onset 5y Phenotype/Onset - Protein - Owner name Julia Lopez Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2021-03-07 20:43:50 +01:00 (CET) Date last edited N/A

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