Phenotype #0000053521

Individual ID 00017032
Associated disease CORD
Inheritance Familial, autosomal recessive
Diagnosis/Initial -
Age/Examination 51y (51 years)
Diagnosis/Definite -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Phenotype details Well tolerated congenital ichthyosis; BCVA was 20/40 right eye; 20/32 left; A binocular kinetic visual field was reduced to the central 10 with bitemporal islands of perception peripherally. Typical RCD Fundus changes with relative macular preservation
Protein -
Owner name Marianne Vos (LOVD-team)
Database submission license No license selected
Created by Johan den Dunnen
Date created 2016-06-19 11:17:14 +02:00 (CEST)
Date last edited N/A

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