Phenotype #0000243070

Individual ID	00324517
Associated disease	CORD
Inheritance	Familial, autosomal dominant
Diagnosis/Initial	cone-rod dystrophy
Age/Examination	60y (60 years)
Diagnosis/Definite	CORD20
Age/Diagnosis	-
Age/Onset	14y
Phenotype/Onset	reduced visual acuity (HP:0007663), photophobia (HP:0000613), nystagmus (HP:0000639), Abnormality of colour vision (HP:0000551)
Phenotype details	14y-reduced visual acuity (HP:0007663), photophobia (HP:0000613), nystagmus HP:0000639), abnormality of colour vision (HP:0000551), 50-59y-reduced visual acuity (HP:0007663), >60y-degenerative changes consisting of RPE atrophy and bone-spicule pigmentations in the periphery of the inferior quadrant, abnormality at the inner-segment ellipsoid zone; 55y-absent rod- and cone-mediated responses on ERG
Protein	-
Owner name	Jens Doets
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2020-12-18 09:39:34 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD