Global Variome shared LOVD

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

Phenotype #0000323645 Individual ID 00433119 Associated disease IMD Phenotype details neutrophil defect or congenital condition with bone marrow failure such as dyskeratosis congenita and Fanconi-like phenotype, anemia and thrombocytopenia Diagnosis/Initial primary immunodeficiency disease Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 10y (10 years) 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 2023-02-28 15:41:53 +01:00 (CET) Date last edited N/A

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