Phenotype #0000350748

Individual ID 00465212
Associated disease -
Phenotype details see paper; ..., reduced visual acuity, light sensitivity; onset early childhood; visiual acuity (LogMAR) OD 0,48, OS 0,78; fundus Bull's eye maculopathy; ERG 27y-cone-rod dystrophy
Diagnosis/Initial reduced visual acuity, light sensitivity
Inheritance Familial, X-linked recessive
Diagnosis/Definite -
Age/Examination 26y (26 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-04-14 16:37:07 +02:00 (CEST)
Date last edited 2025-04-14 18:04:27 +02:00 (CEST)

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