Global Variome shared LOVD

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

Phenotype #0000350704 Individual ID 00464719 Associated disease macular dystrophy Phenotype details macular dystrophy; central vision loss; extensive central chorioretinal atrophy; no neurological symptoms; hiatus hernia; diverticulosis and colitis; hypertension; bilateral sensorineural hearing loss (onset late 50s) Diagnosis/Initial macular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 63y (63 years) Age/Diagnosis - Age/Onset >45y Phenotype/Onset central vision loss Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-04-14 14:18:03 +02:00 (CEST) Date last edited N/A

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