Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000326733 Individual ID 00436582 Associated disease USH2A Phenotype details Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510, Moderate sensorineural hearing impairment HP:0008504 Diagnosis/Initial Usher syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite # 276901 Age/Examination 14y (14 years) Age/Diagnosis 42y Age/Onset 14y Phenotype/Onset 14y Protein - Owner name Rocio Villafuerte-de la Cruz Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Rocio Villafuerte-de la Cruz Date created 2023-09-21 21:39:33 +02:00 (CEST) Date last edited 2023-09-22 14:40:15 +02:00 (CEST)

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