Global Variome shared LOVD

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Phenotype #0000296644 Individual ID 00404051 Associated disease - Phenotype details atypical Best disease with a bifocal lesion; macular cystoid lesion with discrete yellowish deposits in its periphery, connected with a temporal paramacular area with less elevation; ptical coherent tomography: large central cystoid space and delamination of the retinal layers Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite autosomal recessive bestrophinopathy Age/Examination 28y (28 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-02-25 15:55:14 +01:00 (CET) Date last edited N/A

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