Global Variome shared LOVD

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

Phenotype #0000326720 Individual ID 00436544 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 # 613809 Age/Examination 19y (19 years) Age/Diagnosis 31y Age/Onset 19y Phenotype/Onset 19y 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 19:21:11 +02:00 (CEST) Date last edited 2023-09-22 14:28:42 +02:00 (CEST)

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