Orpha Number: 85328
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 |
|---|---|---|
| 100% of people have these symptoms | ||
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| 80%-99% of people have these symptoms | ||
| Coarse facial features |
Coarse facial appearance
|
0000280 |
| 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 |
| Intellectual disability, mild |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 |
| Intellectual disability, moderate |
IQ between 34 and 49
|
0002342 |
| 30%-79% of people have these symptoms | ||
| Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 |
| Macrocephaly |
Large head circumference
Large head
Increased size of skull
[ more ]
|
0000256 |
| 5%-29% of people have these symptoms | ||
| Abnormal fingernail morphology |
Abnormal fingernails
Abnormality of the fingernails
[ more ]
|
0001231 |
| Absent nares |
Missing nostrils
|
0100596 |
| Ankle flexion |
0006466 | |
| Delayed gross motor development |
Delayed motor skills
|
0002194 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Female infertility | 0008222 | |
| Global |
0001263 | |
| Holoprosencephaly | 0001360 | |
| Hyperreflexia |
Increased reflexes
|
0001347 |
| Hypertonia | 0001276 | |
| Hypotelorism |
Abnormally close eyes
Closely spaced eyes
[ more ]
|
0000601 |
| Limited elbow extension |
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension
[ more ]
|
0001377 |
| Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ]
|
0000276 |
| Macroorchidism |
Large testis
|
0000053 |
| Obesity |
Having too much body fat
|
0001513 |
| Pointed chin |
Pointy chin
Small pointed chin
Witch's chin
[ more ]
|
0000307 |
| 0001250 | ||
| Tapered finger |
Tapered fingertips
Tapering fingers
[ more ]
|
0001182 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0001417 | ||
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.
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.
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