Phenotype #0000350747

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00465211
Associated disease	-
Phenotype details	see paper; ..., reduced visual acuity, light sensitivity; onset early childhood; visiual acuity (LogMAR) OD 1,3, OS 1,1; fundus early macular atrophy; ERG 47y-cone-rod dystrophy
Diagnosis/Initial	reduced visual acuity, light sensitivity
Inheritance	Familial, X-linked recessive
Diagnosis/Definite	-
Age/Examination	47y (47 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-04-14 16:37:07 +02:00 (CEST)
Date last edited	2025-04-14 18:03:53 +02:00 (CEST)

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