Global Variome shared LOVD

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

Phenotype #0000298526 Individual ID 00406027 Associated disease - Phenotype details Peripheral bone spicules, attenuated retinal blood vessels, macular coloboma, nystagmus, cataract Diagnosis/Initial Retinal Degeneration Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 3y (3 years) Age/Diagnosis - Age/Onset 39y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-03-25 07:05:25 +01:00 (CET) Date last edited N/A

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