Phenotype #0000144087

Individual ID 00183351
Associated disease CTRCT
Phenotype details PatI1 (65y) bilateral catarat 16y, best corrected visual acuity R 0.33/L ?, iris coloboma R, no microcornea;55y-left enucleated for secondary glaucoma
PatIII3 (17y) bilateral nuclear cataract, best corrected visual acuity R 0.1/L 0.25, iris no coloboma, no microcornea, horizontal nystagmus (L+R)
Diagnosis/Initial cataract
Inheritance Familial, autosomal dominant
Diagnosis/Definite CTRCT-4
Age/Examination -
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 2018-10-23 17:34:58 +02:00 (CEST)
Date last edited 2018-10-23 17:55:14 +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.