Global Variome shared LOVD

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

Phenotype #0000046600 Individual ID 00060110 Associated disease OCMD Phenotype details age presentation mid 20s ; fundus normal ; fundus autofluorescence imaging irregular foveal; foveal appearance on spectral‐domain optical coherence tomography focal disruption of the ISe line in the foveola; irregular ISe line ; Normal full‐field electroretinogramss; pattern electroretinogram P50 components severely subnormal Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 35y (35 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Alice Davidson Database submission license No license selected Created by Alice Davidson Date created 2012-10-29 12:52:03 +01:00 (CET) Date last edited 2021-03-11 16:07:31 +01:00 (CET)

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