Global Variome shared LOVD

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

Phenotype #0000245750 Individual ID 00327461 Associated disease maculopathy Diagnosis/Initial - Diagnosis/Definite - Phenotype details Fundus: No specific findings OCT: Normal ERG:Central loss on multi-focal electroretinogram (abnormal ERG HP:0000512) - Reduced Visual Acuity 20/40 OU (HP:0007663) Inheritance Familial, autosomal recessive Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Lance P Doucette Database submission license No license selected Created by Lance P Doucette Date created 2021-01-21 20:48:03 +01:00 (CET) Date last edited 2021-01-24 17:24:48 +01:00 (CET)

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