Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000203884 Individual ID 00266104 Associated disease IMD Phenotype details undocumented sepsis, treatment with IV immune globulin since birth; thrombocytopenia; no lymphoproliferative disorder; muscular hypotonia, partial iris hypoplasia, abnormal dental enamel, hypoglycemia; 15m-hematopoietic stem-cell transplantation, currently alive and well with muscular hypotonia Diagnosis/Initial immunodeficiency Inheritance Familial, autosomal recessive Diagnosis/Definite IMD-10 Age/Examination - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-10-12 17:12:29 +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.