Global Variome shared LOVD

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Phenotype #0000337185 Individual ID 00447996 Associated disease - Phenotype details see paper; ..., 30y-abnormal full-field ERG; refraction OD -7.0/0.0, OS -9.0/0.0; best corrected visual acuity OU 20/20 (30y); full field ERG 30y-abnormal rod and cone responses Diagnosis/Initial generalized retinal dysfunction Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Susanne Roosing Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-02-09 14:03:00 +01:00 (CET) Date last edited N/A

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