Global Variome shared LOVD

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Phenotype #0000306851 Individual ID 00415050 Associated disease - Phenotype details affected eyes: prominent forward bowing of the iris and a narrow angle between iris and cornea; diameter and curvature of the cornea within normal range; retina: absence of a normal foveal pit, presence of macular folds, slight tortuosity of blood vessels; retinas appeared healthy, with the exception of patches of hypopigmentation in the lateral fundus Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite extreme hyperopia Age/Examination 23y (23 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-08-06 12:23:08 +02:00 (CEST) Date last edited N/A

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