Phenotype #0000061321

Individual ID 00081687
Associated disease GLC3A
Phenotype details increased intraocular pressure (HP:0007906) OD/OS 26/20; cup to disc ratio no view/no view; visual acuity hand movement/hand movement; corneal diameter lateral >14mm; bilateral corneal opacity (HP:0007957); vascularization
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 12y (12 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2016-10-18 23:25:02 +02:00 (CEST)
Date last edited N/A

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.