The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Agammaglobulinemia | - |
| Autosomal dominant inheritance | - |
| Autosomal recessive inheritance | - |
| Biliary tract abnormality | - |
| Chronic lymphocytic meningitis | - |
| Chronic mucocutaneous candidiasis | - |
| Colitis | - |
| Cutaneous anergy | - |
| Encephalitis | - |
| Failure to thrive | - |
| Malabsorption | - |
| Neutropenia | - |
| Panhypogammaglobulinemia | - |
| Protracted diarrhea | - |
| Recurrent bacterial infections | - |
| Recurrent fungal infections | - |
| Recurrent lower respiratory tract infections | - |
| Recurrent protozoan infections | - |
| Recurrent upper respiratory tract infections | - |
| Recurrent urinary tract infections | - |
| Recurrent viral infections | - |
| Villous atrophy | - |
| Viral hepatitis | - |
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
