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 |
|---|---|---|
| 80%-99% of people have these symptoms | ||
| 0001251 | ||
| Cranial nerve paralysis | 0006824 | |
| Enlarged cerebellum | 0012081 | |
| Hand |
Extra finger
|
0001161 |
| Headache |
Headaches
|
0002315 |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Increased intracranial pressure |
Rise in pressure inside skull
|
0002516 |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
| Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ]
|
0000158 |
| Nausea and vomiting | 0002017 | |
| Papule | 0200034 | |
| Polymicrogyria |
More grooves in brain
|
0002126 |
| 0001250 | ||
| 30%-79% of people have these symptoms | ||
| Acrokeratosis | 0200016 | |
| Fibroadenoma of the breast | 0010619 | |
| 0100031 | ||
| Ovarian neoplasm |
Ovarian tumor
|
0100615 |
| Trichilemmoma | 0012844 | |
| 1%-4% of people have these symptoms | ||
| Decreased circulating |
0004313 | |
| Lymphopenia |
Decreased blood lymphocyte number
Low lymphocyte number
[ more ]
|
0001888 |
| Recurrent infections |
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ]
|
0002719 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the vasculature |
Abnormality of blood vessels
Vascular abnormalities
[ more ]
|
0002597 |
| Adult onset |
Symptoms begin in adulthood
|
0003581 |
| Angioid streaks of the fundus | 0001102 | |
| 0000006 | ||
| Breast carcinoma |
Breast cancer
|
0003002 |
| Carcinoma | 0030731 | |
|
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
| Colonic diverticula | 0002253 | |
| Dysplastic gangliocytoma of the cerebellum | 0500009 | |
| Furrowed tongue |
Grooved tongue
|
0000221 |
| Global |
0001263 | |
| Goiter |
Enlarged thyroid gland in neck
|
0000853 |
|
Enlarged male breast
|
0000771 | |
| Hamartomatous polyposis | 0004390 | |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| Hemimegalencephaly | 0007206 | |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hydrocele |
0000034 | |
| Hyperthyroidism |
Overactive thyroid
|
0000836 |
| Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ]
|
0000327 |
| Hypothyroidism |
Underactive thyroid
|
0000821 |
|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 | |
| Intention tremor | 0002080 | |
| Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
| Meningioma | 0002858 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
| Narrow mouth |
Small mouth
|
0000160 |
| Ovarian carcinoma | 0025318 | |
| Ovarian cyst | 0000138 | |
| Palmoplantar hyperkeratosis |
Thickening of the outer layer of the skin of the palms and soles
|
0000972 |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Progressive macrocephaly |
Progressively abnormally enlarging cranium
Progressively abnormally enlarging skull
[ more ]
|
0004481 |
| 0002650 | ||
| Skin tags | 0010609 | |
| Subcutaneous lipoma | 0001031 | |
| Thyroid adenoma | 0000854 | |
| Thyroiditis |
Thyroid gland inflammation
|
0100646 |
| Transitional |
0006740 | |
| Varicocele | 0012871 | |
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
