Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased serum IgG
Always present (100%)HP:0004315
Pneumocystis carinii pneumonia
Very frequent (80-99%)HP:0020102
Diarrhea
Frequent (30-79%)HP:0002014
Enteroviral encephalitis
Frequent (30-79%)HP:0034285
Lower respiratory tract infections
Frequent (30-79%)HP:0002783
Mouth ulcer
Frequent (30-79%)HP:0000155
Neutropoenia
Frequent (30-79%)HP:0001875
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Undergrowth
Frequent (30-79%)HP:0001508
Ankle clonus
Occasional (5-29%)HP:0011448
Chronic oral thrush
Occasional (5-29%)HP:0009098
Cirrhosis
Occasional (5-29%)HP:0001394
Fibrous cholangitis
Occasional (5-29%)HP:0030991
Hepatitis
Occasional (5-29%)HP:0012115
Hypoxemia
Occasional (5-29%)HP:0012418
Increased reflexes
Occasional (5-29%)HP:0001347
Increased serum IgA
Occasional (5-29%)HP:0003261
Infection in blood stream
Occasional (5-29%)HP:0100806
Loss of milestones
Occasional (5-29%)HP:0002376
Meningitis
Occasional (5-29%)HP:0001287
Abnormal circulating IgM level
Excluded (<1%)HP:0410243
Chronic hepatitis
HP:0200123
Decreased T-lymphocyte activation
HP:0005419
Dysgammaglobulinemia
HP:0002961
Enlarged liver
HP:0002240
Gingivostomatitis
HP:0010280
Hemolytic anaemia
HP:0001878
IgE deficiency
HP:0005479
Immune deficiency
HP:0002721
Impaired Ig class switch recombination
HP:0002959
Quick Facts
- SNOMED CT
- 403835002
- UMLS CUI
- C0398689
- Fully Specified Name
- X-linked hyper-immunoglobulin M syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.