Phenotype #0000352985

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00467831
Associated disease	-
Phenotype details	see paper; ..., BVCA right 20/70+1, left 20/70+1; gradual tilting RNFL over time; primary congenital glaucoma, subnormal visual acuity, severe cone and mild rod dysfunction
Diagnosis/Initial	cone–rod dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	RDMS
Age/Examination	3y (3 years)
Age/Diagnosis	-
Age/Onset	12y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-10-31 22:30:31 +01:00 (CET)
Date last edited	N/A

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