Phenotype #0000243071

Individual ID 00324526
Associated disease COD
Phenotype details see paper; ..., decreased central vision (HP:0007663), extreme photophobia (HP:0000613), progressive visual loss in both eyes (HP:0000529), dyschromatopsia (HP:0007641), absent rod-and cone-mediated responses on ERG (HP:0007688)
Diagnosis/Initial cone dystrophy
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis 20y
Age/Onset 06y
Phenotype/Onset photophobia, reduiced visual acuity
Protein -
Owner name Najlae Akhiyate
Database submission license No license selected
Created by Najlae Akhiyate
Date created 2020-12-18 10:54:47 +01:00 (CET)
Date last edited 2021-01-15 14:32:39 +01:00 (CET)

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