Phenotype #0000236282

Individual ID 00311011
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite ERCC1 deficiency
Phenotype details ocular photosensitivity, skin photosensitivity (HP:0000992), renal dysfunction, liver dysfunction (HP:0001410), ovarian insufficiency (HP:0008209); 9y10m-orthotopic liver transplantation
Inheritance Familial, autosomal recessive
Age/Examination 03y (3 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein Very low protein levels of ERCC1 and XPF
Tumor/MSI -
Diagnosis/Criteria -
Owner name Martijn S. Luijsterburg
Database submission license No license selected
Created by Martijn S. Luijsterburg
Date created 2020-09-13 17:13:40 +02:00 (CEST)
Date last edited 2020-09-14 16:25:29 +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.