Phenotype #0000257697

Individual ID 00362280
Associated disease DBA
Diagnosis/Initial Diamond-Blackfan anemia
Diagnosis/Definite DBA5
Phenotype details see paper; ..., hypertelorism, ventricular septal defect, hypospadias, low-set ears, developmental delay; responsive to steroid therapy
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset 00y02m
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 2021-04-20 18:37:24 +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.