Global Variome shared LOVD

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

Phenotype #0000299330 Individual ID 00406880 Associated disease - Phenotype details eye movement: pendular nystagmus, vitreous: opacity lefe eye, macula: staphyloma , white dots: equatorial, spiculation: peripheral and equatorial Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Leber congenital amaurosi Age/Examination 30y (30 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-05 15:12:11 +02:00 (CEST) Date last edited N/A

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