Phenotype #0000244571

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00326002
Associated disease	CORD
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	cone-rod dystrophy
Age/Examination	-
Diagnosis/Definite	CORD20
Age/Diagnosis	-
Age/Onset	09y
Phenotype/Onset	reduced visual acuity (HP:0007663), nystagmus (HP:0000639), 9y-absent cone function
Phenotype details	reduced visual acuity (HP:0007663), nystagmus (HP:0000639), 9y-absent cone function
Protein	-
Owner name	Jens Doets
Database submission license	No license selected
Created by	Jens Doets
Date created	2021-01-06 16:33:55 +01:00 (CET)
Date last edited	2021-01-07 10:18:55 +01:00 (CET)

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