Global Variome shared LOVD

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Phenotype #0000308396 Individual ID 00416884 Associated disease ND Inheritance Familial, X-linked recessive Diagnosis/Initial - Age/Examination 6y (6 years) Diagnosis/Definite Norrie disease (ND) Age/Diagnosis 3y Age/Onset - Phenotype/Onset - Phenotype details best corrected visual acuity right, left eye:light perception,20/60; initial refractive error:+ 0.75 sphere left eye; slit-lamp examination:normal /normal; fundus: avascular periphery total retinal detachment /avascular periphery, retinal detachment Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-09-09 13:06:13 +02:00 (CEST) Date last edited N/A

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