Phenotype #0000066810

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00087273
Associated disease	RS1
Phenotype details	typical X-linked juvenile retinoschisis; one patient had undergone asphyxia during neonatal age, suffers from mild hemiplegia, epilepsy, scar in one hemispheres
Diagnosis/Initial	retinoschisis
Inheritance	Familial, X-linked recessive
Diagnosis/Definite	RS1
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2008-01-22 12:32:06 +01:00 (CET)
Date last edited	2021-12-10 17:30:48 +01:00 (CET)

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