Phenotype #0000350752

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00465216
Associated disease	-
Phenotype details	see paper; ..., reduced visual acuity, Turner Syndrome; onset early childhood; visiual acuity (LogMAR) OD 0,6, OS 0,6; fundus early macular atrophy; ERG 19y-cone dystrophy
Diagnosis/Initial	reduced visual acuity, Turner Syndrome
Inheritance	Familial, X-linked recessive
Diagnosis/Definite	-
Age/Examination	19y (19 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 18:06:40 +02:00 (CEST)

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