Phenotype #0000308397

Individual ID 00416885
Associated disease ND
Inheritance Familial, X-linked recessive
Diagnosis/Initial -
Age/Examination 65y (65 years)
Diagnosis/Definite Norrie disease (ND)
Age/Diagnosis 48y
Age/Onset -
Phenotype/Onset -
Phenotype details best corrected visual acuity right, left eye:hand motions,20/40; initial refractive error:-3.75 sphere left eye; slit-lamp examination:white cataract /posterior subcapsular cataract; fundus: congenital retinal fold /temporal dragging of vessels, avascular periphery, retinal detachment
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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