Global Variome shared LOVD

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Phenotype #0000308398 Individual ID 00416886 Associated disease ND Inheritance Familial, X-linked recessive Diagnosis/Initial - Age/Examination 61y (61 years) Diagnosis/Definite Norrie disease (ND) Age/Diagnosis 57y Age/Onset - Phenotype/Onset - Phenotype details best corrected visual acuity right, left eye:20/25,20/160; initial refractive error:-8.50 sphere right eye; slit-lamp examination:posterior subcapsular cataract /brunescent cataract; fundus: peripheral pigmentary changes /peripheral pigmentary changes 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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