Phenotype #0000349682

Individual ID 00462182
Associated disease ?
Diagnosis/Initial multiple congenital abnormalities
Diagnosis/Definite DEE54
Phenotype details HP:0000252, HP:0001249, HP:0001256, HP:0002389, HP:0004322
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Marketa Wayhelova
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Marketa Wayhelova
Date created 2025-02-01 09:15:14 +01:00 (CET)
Date last edited 2025-02-03 09:25:56 +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.