Global Variome shared LOVD

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Phenotype #0000289255 Individual ID 00396093 Associated disease - Phenotype details best corrected visual acuity right/left eye: 0.4/0.4, both eyes: macular retinoschisis, both eyes: no peripheral retinoschisis, electroretinography: reduced photopic and 30Hz responses Diagnosis/Initial - Inheritance Familial, X-linked recessive Diagnosis/Definite retinoschisis Age/Examination 8y (8 years) Age/Diagnosis - Age/Onset 6y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2021-12-13 13:53:04 +01:00 (CET) Date last edited N/A

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