Phenotype #0000347448

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00459352
Associated disease	-
Phenotype details	see paper; ..., decreased corrected visual acuity, perifoveal hypo-pigmentary change/atrophy, foveal schitic changes inner/outer nuclear layers
Diagnosis/Initial	retinoschisis
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	08y (8 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-12-24 10:01:26 +01:00 (CET)
Date last edited	N/A

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