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 | ||
| Absent axillary hair | 0002221 | |
| Absent pubic hair | 0002555 | |
| Aplasia of the uterus |
Absent uterus
uterus absent
[ more ]
|
0000151 |
| Aplasia/Hypoplasia of the fallopian tube |
Absent/small fallopian tube
Absent/underdeveloped fallopian tube
[ more ]
|
0008655 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Infertility | 0000789 | |
| Male pseudohermaphroditism | 0000037 | |
| Nephrolithiasis |
Kidney stones
|
0000787 |
| Primary amenorrhea | 0000786 | |
| 30%-79% of people have these symptoms | ||
| Inguinal hernia | 0000023 | |
| 0000939 | ||
| 5%-29% of people have these symptoms | ||
|
Enlarged male breast
|
0000771 | |
| Muscle cramps | 0003394 | |
| Sensory neuropathy | 0000763 | |
| Testicular gonadoblastoma | 0000030 | |
| Tremor |
Tremors
|
0001337 |
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
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Conditions with similar signs and symptoms from Orphanet
|
|---|
|
Differential diagnoses include 17-beta-hydroxysteroid dehydrogenase deficiency, Leydig cell hypoplasia, XY complete gonadal dysgenesis (Swyer syndrome), 5-alpha-reductase type 2 deficiency and variants of congenital adrenal hyperplasia (see these terms).
Visit the
Orphanet disease page
for more information.
|
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.
NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018
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