Global Variome shared LOVD

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

Phenotype #0000279063 Individual ID 00385267 Associated disease - Phenotype details Typical bone-spicule pigmentation in midperiphery and perivascular, vessels attenuation, pale and atrophic optic disk (36 y). Bilateral cataract Diagnosis/Initial Early onset retinal degeneration (EORD) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 14y (14 years) 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 2021-10-09 03:44:00 +02:00 (CEST) Date last edited N/A

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