Phenotype #0000308403

Individual ID 00416891
Associated disease ND
Inheritance Familial, X-linked recessive
Diagnosis/Initial -
Age/Examination 79y (79 years)
Diagnosis/Definite Norrie disease (ND)
Age/Diagnosis 71y
Age/Onset -
Phenotype/Onset -
Phenotype details best corrected visual acuity right, left eye:20/30,20/30; initial refractive error:+ 1.00 sphere right eye/left eye; slit-lamp examination:2 + nuclear sclerosis /2 + nuclear sclerosis; fundus: mild peripheral and central retinal pigment epithelial changes /mild peripheral and central retinal pigment epithelial changes
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-09-09 13:06:13 +02:00 (CEST)
Date last edited N/A

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