Phenotype #0000308399

Individual ID 00416887
Associated disease ND
Inheritance Familial, X-linked recessive
Diagnosis/Initial -
Age/Examination 53y (53 years)
Diagnosis/Definite Norrie disease (ND)
Age/Diagnosis 6y
Age/Onset -
Phenotype/Onset -
Phenotype details best corrected visual acuity right, left eye:light perception,20/30; initial refractive error:-6.75 sphere right eye/ -8.75 sphere left eye; slit-lamp examination:normal /normal; fundus: congenital retinal fold, retinal detachment /normal
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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