Phenotype #0000326723

Individual ID 00436572
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 12y (12 years)
Age/Diagnosis 35y
Age/Onset 12y
Phenotype/Onset 12y
Protein -
Owner name Rocio Villafuerte-de la Cruz
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Rocio Villafuerte-de la Cruz
Date created 2023-09-21 20:25:44 +02:00 (CEST)
Date last edited 2023-09-22 14:30:49 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.