Phenotype #0000058081

Individual ID 00078306
Associated disease CORD
Inheritance Unknown
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis -
Age/Onset 8y
Phenotype/Onset visual deterioration, observed by patient
Phenotype details cone-rod dystrophy (HP:0000510); Bilateral, progressive visual loss with concomitant nyctalpia, color vision abnormalities and photophobia. The eye fundus examination revealed panretinal degeneration affecting the macula more severely. In flash ERG full-field rod responses were moderately reduced, as well as cone-rod responses, whereas full-field cone responses were severely reduced.
Protein -
Owner name Stéphanie Cornelis
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Stéphanie Cornelis
Date created 2016-02-22 12:22:09 +01:00 (CET)
Date last edited N/A

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