Orpha Number: 95699
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 | ||
| Abnormality of the labia majora |
Abnormality of vaginal lips
|
0012881 |
| Abnormality of the menstrual cycle | 0000140 | |
| Absence of secondary sex characteristics | 0008187 | |
| Accelerated skeletal maturation |
Advanced bone age
Early bone maturation
[ more ]
|
0005616 |
| Adrenocorticotropic |
0011749 | |
| Adrenogenital |
0000840 | |
| Ambiguous genitalia, female |
Atypical appearance of female genitals
|
0000061 |
| Clitoral hypertrophy |
Enlarged clitoris
|
0008665 |
| 0008258 | ||
| 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 |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| Enlarged polycystic ovaries |
Enlarged ovaries with cysts
|
0008675 |
| Female external genitalia in individual with 46,XY |
0008730 | |
| Hyperpigmented genitalia |
Increased genital pigmentation
|
0030258 |
| Increased serum testosterone level | 0030088 | |
| Maternal virilization in pregnancy | 0008072 | |
| 0000939 | ||
| Premature adrenarche | 0012412 | |
| Tall stature |
Increased body height
|
0000098 |
| 30%-79% of people have these symptoms | ||
| Abnormal |
0012244 | |
| Ambiguous genitalia, male |
Ambiguous genitalia in males
|
0000033 |
| Androgen insufficiency | 0008226 | |
| Arachnodactyly |
Long slender fingers
Spider fingers
[ more ]
|
0001166 |
| Bifid scrotum |
Cleft of scrotum
|
0000048 |
| Choanal atresia |
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ]
|
0000453 |
| Choanal stenosis |
Narrowing of the rear opening of the nasal cavity
|
0000452 |
| Clinodactyly |
Permanent curving of the finger
|
0030084 |
| 0001363 | ||
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Decreased circulating cortisol level |
Low blood cortisol level
|
0008163 |
| Decreased fertility in females |
Reduced fertility in females
|
0000868 |
| Decreased fertility in males | 0012041 | |
| Decreased testicular size |
Small testes
Small testis
[ more ]
|
0008734 |
| Ectopic adrenal gland |
Abnormal adrenal gland position
|
0011742 |
| Female sexual dysfunction | 0030014 | |
| Flexion |
Flexed joint that cannot be straightened
|
0001371 |
| Generalized hyperpigmentation | 0007440 | |
| Hypoplasia of the vagina |
Underdeveloped vagina
|
0008726 |
| Increased circulating ACTH level |
High blood corticotropin levels
|
0003154 |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Male pseudohermaphroditism | 0000037 | |
| Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
| Pear-shaped nose | 0000447 | |
| Perineal hypospadias | 0000051 | |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Urogenital sinus anomaly | 0100779 | |
| 5%-29% of people have these symptoms | ||
| Acne | 0001061 | |
| Aortic root aneurysm |
Bulge in wall of root of large artery that carries blood away from heart
|
0002616 |
| Hirsutism |
Excessive hairiness
|
0001007 |
| 0000822 | ||
| Percent of people who have these symptoms is not available through HPO | ||
| Ambiguous genitalia |
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia
[ more ]
|
0000062 |
| 0000007 | ||
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.
