Phenotype #0000333334

Individual ID 00444076
Associated disease THES2
Phenotype details congenital diarrhea immunodeficiency, hair abnormalities, hypogammaglobulinemia, facial dysmorphism
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Trichohepatoenteric syndrome 2 (MIM #614602)
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Murat Ozturk
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Murat Ozturk
Date created 2023-12-13 11:54:40 +01:00 (CET)
Date last edited 2023-12-13 16:08:19 +01:00 (CET)

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.