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 facial shape |
Unusual facial appearance
|
0001999 |
| Abnormal plantar dermatoglyphics |
Abnormal prints on feet
|
0010506 |
| Abnormality of the cerebral white matter | 0002500 | |
| Ambiguous genitalia |
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia
[ more ]
|
0000062 |
| Autistic behavior | 0000729 | |
| Bilateral talipes equinovarus |
Club foot on both sides
|
0001776 |
| 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 skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ]
|
0000750 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Eunuchoid habitus | 0003782 | |
| Finger clinodactyly | 0040019 | |
|
Enlarged male breast
|
0000771 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Increased circulating gonadotropin level |
Elevated gonadotropins
Elevated serum gonadotropins
Gonadotropin excess
[ more ]
|
0000837 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Low frustration tolerance | 0000744 | |
| Low-set, posteriorly rotated ears | 0000368 | |
| Male |
Decreased function of male gonad
|
0000026 |
| Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ]
|
0000303 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
| Moderate global |
0011343 | |
| Narrow chest |
Low chest circumference
Narrow shoulders
[ more ]
|
0000774 |
| Primary gonadal insufficiency | 0008193 | |
| Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ]
|
0011220 |
| Recurrent upper respiratory tract infections |
Recurrent colds
|
0002788 |
| Ventriculomegaly | 0002119 | |
| Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
|
0000431 |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
