Global Variome shared LOVD

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Phenotype #0000303036 Individual ID 00410946 Associated disease - Phenotype details heterochromia irides, night blindness and vision acuity impairment, constriction of the peripheral visual field, with mild-to-severe loss of central vision, attenuation of the retinal vessels, waxy pallor of the optic nerve head, and bone speckle-like pigmentation clumps in the peripheral retina Diagnosis/Initial bilateral moderate-to-severe hearing impairment Inheritance Familial, autosomal recessive Diagnosis/Definite Usher syndrome type II (USH2) Age/Examination 67y (67 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-05-31 18:45:49 +02:00 (CEST) Date last edited N/A

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