Global Variome shared LOVD

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

Phenotype #0000250161 Individual ID 00331970 Associated disease - Phenotype details reduced visual acuity; scotopic ERG extinguished; photopic ERG extinguished Diagnosis/Initial macular dystrophy or cone-rod dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 44y (44 years) Age/Diagnosis - Age/Onset 6y Phenotype/Onset reduced visual acuity Protein - Owner name LOVD Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-02-14 10:12:05 +01:00 (CET) Date last edited N/A

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