Global Variome shared LOVD

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

Phenotype #0000298395 Individual ID 00405898 Associated disease - Phenotype details VA: 20/200 (better eye); Primarily peripapillary hypopigmentation with patchy pigment clumping as well as drusen like deposits and macular hypopigmentary changes Diagnosis/Initial Leber congenital amaurosis (LCA) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-03-23 03:47:23 +01:00 (CET) Date last edited N/A

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