Global Variome shared LOVD

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

Phenotype #0000350706 Individual ID 00464721 Associated disease macular dystrophy Phenotype details macular dystrophy; problem with reading; extensive central chorioretinal atrophy; no neurological symptoms Diagnosis/Initial macular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 59y (59 years) Age/Diagnosis - Age/Onset 40y Phenotype/Onset problem with reading 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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