Phenotype #0000350542

Individual ID 00464541
Associated disease IMD
Phenotype details see paper; ..., intrauterine growth restriction; birth-41wg; gastrointestinal/respiratory tract bleeding, hepatosplenomegaly, Evans syndrome (autoimmune hemolytic anemia and thrombocytopenia); infections; impaired wound heeling; scoliosis; pneumatoceles; autoimmunity; anemia; leukocytosis; lymphocytosis; neutrophilia; eosinophilia; monocytosis; thrombocytopenia; elevated serum IgA, normal level IgE level, high acute phase reactants; recurrent episodes of paralytic ileus; celiac disease; hepatitis; minimal change disease nephropathy; short stature, facial dysmorphisms
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite IMD113
Age/Examination 15y (15 years)
Age/Onset -
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 2025-03-26 21:40:18 +01:00 (CET)
Date last edited N/A

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