Phenotype #0000326737

Individual ID 00436586
Associated disease USH2A
Phenotype details Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551
Diagnosis/Initial Retinal dystrophy
Inheritance Familial, autosomal recessive
Diagnosis/Definite # 276901
Age/Examination 27y (27 years)
Age/Diagnosis 82y
Age/Onset 27y
Phenotype/Onset 27y
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 22:03:40 +02:00 (CEST)
Date last edited 2023-09-22 14:43:26 +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.