Global Variome shared LOVD

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Phenotype #0000289886 Individual ID 00396725 Associated disease - Phenotype details marked reduction of best-corrected visual acuity, spectral domain optical coherence tomography: cystic degeneration primarily involving the inner nuclear layer, though some cysts were detected in the outer plexiform layer aand in the ganglion cell layer; ten-year follow-up: progressive retinal thickening and coalescence of the cysts Diagnosis/Initial - Inheritance Familial, X-linked recessive Diagnosis/Definite retinoschisis Age/Examination 41y (41 years) Age/Diagnosis - Age/Onset 9y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2021-12-17 09:26:52 +01:00 (CET) Date last edited N/A

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