Orpha Number: 2959
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 | ||
| Abnormal muscle tone | 0003808 | |
| Abnormality of thalamus morphology | 0010663 | |
| Alopecia |
Hair loss
|
0001596 |
| Band keratopathy | 0000585 | |
| Bifid uvula | 0000193 | |
| Bird-like facies |
Bird-like facial appearance
|
0000320 |
|
Short fingers or toes
|
0001156 | |
| Broad-based gait |
Wide based walk
|
0002136 |
|
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
| Central sleep apnea | 0010536 | |
| Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
|
0100543 |
| Decrease in T |
Low T cell count
Reduced number of T cells
[ more ]
|
0005403 |
| Decreased serum estradiol | 0008214 | |
| Decreased serum testosterone level |
Decreased serum testosterone levels
Low serum testosterone level
Low serum testosterone levels
[ more ]
|
0040171 |
| Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ]
|
0000823 |
| Dental malocclusion |
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ]
|
0000689 |
| Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
| Fragile teeth | 0025124 | |
| Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
| Hepatic steatosis |
Fatty infiltration of liver
Fatty liver
[ more ]
|
0001397 |
| High pitched voice | 0001620 | |
| Hypergonadotropic |
0000815 | |
| Hyperpigmented nevi | 0007481 | |
| Hypodontia |
Failure of development of between one and six teeth
|
0000668 |
| Hypospadias | 0000047 | |
|
Decreased immune function
|
0002721 | |
| Insomnia |
Difficulty staying or falling asleep
|
0100785 |
| Insulin-resistant |
Insulin resistant diabetes
Insulin-resistant diabetes
[ more ]
|
0000831 |
| Lack of facial subcutaneous fat |
Lack of facial fat below the skin
|
0005320 |
| Low posterior hairline |
Low hairline at back of neck
|
0002162 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
| Multiple joint |
0002828 | |
| Osteopenia | 0000938 | |
| Paresthesia |
Pins and needles feeling
Tingling
[ more ]
|
0003401 |
| Premature ovarian insufficiency |
Early menopause
Premature menopause
Premature ovarian failure
[ more ]
|
0008209 |
| Progeroid facial appearance |
Premature aged appearance
|
0005328 |
| Progressive sensorineural hearing impairment | 0000408 | |
| Progressive visual loss |
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive
[ more ]
|
0000529 |
| Recurrent viral infections | 0004429 | |
| Selective tooth agenesis | 0001592 | |
| Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ]
|
0001518 |
| Supraventricular arrhythmia | 0005115 | |
| 5%-29% of people have these symptoms | ||
| Episodic vomiting | 0002572 | |
| Generalized |
0040160 | |
|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 | |
| Microcytic |
0001935 | |
| Motor delay | 0001270 | |
|
Cancer of the pancreas
Pancreatic tumor
[ more ]
|
0002894 | |
| Thoracic |
0002943 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal joint morphology |
Abnormal shape of joints
Abnormality of the joints
Anomaly of the joints
[ more ]
|
0001367 |
| Allergic conjunctivitis | 0007879 | |
| Allergic rhinitis |
Hay fever
Hayfever
[ more ]
|
0003193 |
| Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
| 0000006 | ||
| 0000007 | ||
| Bicuspid aortic valve |
Aortic valve has two leaflets rather than three
|
0001647 |
| Chordee | 0000041 | |
| Diabetes mellitus | 0000819 | |
| Esophageal ulceration |
Esophagus ulcer
|
0004791 |
| High-frequency hearing impairment |
Hearing loss, high-frequency
High frequency hearing loss
Progressive high frequency hearing loss
[ more ]
|
0005101 |
| Impaired T cell function |
T-cell dysfunction
|
0005435 |
| Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 |
| Irregular dentition |
Irregular teeth
|
0040079 |
| Numerous nevi |
Numerous moles
|
0001054 |
| Sensorineural hearing impairment | 0000407 | |
| Visual loss |
Loss of vision
Vision loss
[ more ]
|
0000572 |
| Vomiting |
Throwing up
|
0002013 |
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.
