Global Variome shared LOVD

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Phenotype #0000308400 Individual ID 00416888 Associated disease ND Inheritance Familial, X-linked recessive Diagnosis/Initial - Age/Examination 62y (62 years) Diagnosis/Definite Norrie disease (ND) Age/Diagnosis 47y Age/Onset - Phenotype/Onset - Phenotype details best corrected visual acuity right, left eye:20/50,count fingers; initial refractive error:-2.00 sphere right eye/left eye; slit-lamp examination:normal /posterior subcapsular cataract; fundus: avascular peripheral retina, peripheral fibrotic ridge, temporal dragging of vessels /avascular peripheral retina, peripheral fibrotic ridge, macular dystrophy 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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