Global Variome shared LOVD

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Phenotype #0000294414 Individual ID 00401631 Associated disease - Phenotype details deafness, vestibular dysfunction and retinitis pigmentosa Diagnosis/Initial Usher syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset The optical coherence tomography (OCT) presentations individuals exhibited cystoid macular edema, macular retinoschisis and retinal thinning Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-02-01 10:38:45 +01:00 (CET) Date last edited N/A

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