This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names | Learn More: HPO ID |
|---|---|---|
| 5%-29% of people have these symptoms | ||
| Achalasia | 0002571 | |
| Esophageal stricture |
Narrowing of esophagus due to inflammation and scar tissue
|
0002043 |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Hypoplastic spleen |
Underdeveloped spleen
|
0006270 |
| Intracranial hemorrhage |
Bleeding within the skull
|
0002170 |
| Leukopenia |
Decreased blood leukocyte number
Low white blood cell count
[ more ]
|
0001882 |
| Myelodysplasia | 0002863 | |
| Paraplegia |
Leg paralysis
|
0010550 |
| 0001250 | ||
| Percent of people who have these symptoms is not available through HPO | ||
| Adrenal insufficiency | 0000846 | |
|
Low number of red blood cells or hemoglobin
|
0001903 | |
| Aspiration pneumonia | 0011951 | |
| 0000006 | ||
| Chronic diarrhea | 0002028 | |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Decreased body weight |
Decreased weight
Low body weight
Low weight
Weight less than 3rd percentile
[ more ]
|
0004325 |
| Decreased testicular size |
Small testes
Small testis
[ more ]
|
0008734 |
| Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
| Global |
0001263 | |
| Hypergonadotropic |
0000815 | |
| Hyperkalemia |
Elevated serum potassium levels
|
0002153 |
|
Low blood sugar
|
0001943 | |
| Hyponatremia |
Low blood sodium levels
|
0002902 |
| Hypospadias | 0000047 | |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
| Lymphopenia |
Decreased blood lymphocyte number
Low lymphocyte number
[ more ]
|
0001888 |
| Microphallus | 0030260 | |
| Motor delay | 0001270 | |
| Overlapping fingers | 0010557 | |
| Patent ductus arteriosus | 0001643 | |
| Petechiae | 0000967 | |
| Radial club hand | 0004059 | |
| Recurrent bacterial infections |
Bacterial infections, recurrent
Frequent bacterial infections
Increased susceptibility to bacterial infections
Recurrent major bacterial infections
[ more ]
|
0002718 |
| Recurrent urinary tract infections |
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent
[ more ]
|
0000010 |
| Rocker bottom foot |
Rocker bottom feet
Rocker-bottom feet
Rockerbottom feet
[ more ]
|
0001838 |
| 0002650 | ||
| Sepsis |
Infection in blood stream
|
0100806 |
| Shawl scrotum |
Scrotum surrounds penis
|
0000049 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
|
Low platelet count
|
0001873 | |
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.
