Global Variome shared LOVD

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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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