Orpha Number: 3464
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 spermatogenesis | 0008669 | |
| Abnormal T-wave | 0005135 | |
| Alopecia |
Hair loss
|
0001596 |
| Aplasia/Hypoplasia of the eyebrow |
Absence of eyebrow
Lack of eyebrow
Missing eyebrow
[ more ]
|
0100840 |
| Bilateral sensorineural hearing impairment | 0008619 | |
| Choreoathetosis | 0001266 | |
| Decreased serum estradiol | 0008214 | |
| Decreased serum testosterone level |
Decreased serum testosterone levels
Low serum testosterone level
Low serum testosterone levels
[ more ]
|
0040171 |
| Decreased testicular size |
Small testes
Small testis
[ more ]
|
0008734 |
| Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ]
|
0000823 |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
|
Difficulty articulating speech
|
0001260 | |
| 0001332 | ||
| Growth |
0000824 | |
| Hyperinsulinemia | 0000842 | |
| Hyperlipidemia |
Elevated lipids in blood
|
0003077 |
|
Decreased activity of gonads
|
0000135 | |
| Hypoplasia of the fallopian tube |
Underdeveloped fallopian tube
|
0008697 |
| Hypoplasia of the uterus |
Small uterus
Underdeveloped uterus
[ more ]
|
0000013 |
| Hypothyroidism |
Underactive thyroid
|
0000821 |
| Insulin-resistant |
Insulin resistant diabetes
Insulin-resistant diabetes
[ more ]
|
0000831 |
|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 | |
| Mental deterioration |
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ]
|
0001268 |
| Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
| Osteopenia | 0000938 | |
| Premature ovarian insufficiency |
Early menopause
Premature menopause
Premature ovarian failure
[ more ]
|
0008209 |
| Protruding ear |
Prominent ear
Prominent ears
[ more ]
|
0000411 |
| Streak ovary | 0010464 | |
| 5%-29% of people have these symptoms | ||
| Anodontia |
Failure of development of all teeth
|
0000674 |
| Hallucinations |
Hallucination
Sensory hallucination
[ more ]
|
0000738 |
| Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ]
|
0000426 |
| Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ]
|
0000448 |
| Psychosis | 0000709 | |
| Scaling skin |
flaking skin
peeling skin
scaly skin
[ more ]
|
0040189 |
| Triangular face |
Face with broad temples and narrow chin
Triangular facial shape
[ more ]
|
0000325 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of extrapyramidal motor function | 0002071 | |
| 0000007 | ||
| Decreased serum insulin-like growth factor 1 | 0030353 | |
| Diabetes mellitus | 0000819 | |
| Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ]
|
0002213 |
| Hypergonadotropic hypogonadism | 0000815 | |
| Hypogonadotropic hypogonadism | 0000044 | |
| Increased thyroid-stimulating hormone level | 0002925 | |
| Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 |
| Sensorineural hearing impairment | 0000407 | |
| Sparse hair | 0008070 | |
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.
