Phenotype #0000347218

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00458788
Associated disease	RS1
Phenotype details	see paper; ..., bilateral intact elipsoide zone, no retinal detachment, no vitreous hemorragies, bilateral peripheral schisis
Diagnosis/Initial	retinoschisis
Inheritance	Familial, X-linked recessive
Diagnosis/Definite	RS1
Age/Examination	14y (14 years)
Age/Diagnosis	6y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-12-20 17:38:17 +01:00 (CET)
Date last edited	N/A

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