Phenotype #0000061325

Individual ID 00081691
Associated disease GLC3A
Phenotype details increased intraocular pressure (HP:0007906) OD/OS 30/26; cup to disc ratio 0.8/0.6; visual acuity light perception/light perception; increased corneal diameter (HP:0000485); bilateral buphthalmos (HP:0000557); bilateral corneal opacity (HP:0007957)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 2y (2 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.