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 |
---|---|---|
30%-79% of people have these symptoms | ||
Abnormality of the cerebral white matter | 0002500 | |
Broad forehead |
Increased width of the forehead
Wide forehead
[ more ]
|
0000337 |
Broad nasal tip |
Broad, upturned nose
Increased breadth of tip of nose
Increased breadth of nasal tip
Broad tip of nose
Wide tip of nose
Nasal tip, wide
Nasal tip, broad
Increased width of tip of nose
Increased width of nasal tip
[ more ]
|
0000455 |
Delayed myelination | 0012448 | |
Facial grimacing | 0000273 | |
Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ]
|
0002213 |
Generalized non-motor (absence) |
Brief seizures with staring spells
|
0002121 |
Global |
0001263 | |
Hyperactivity |
More active than typical
|
0000752 |
Hyperopic astigmatism | 0000484 | |
Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
Mental retardation, severe
Early and severe mental retardation
Severe mental retardation
[ more ]
|
0010864 | |
Long fingers | 0100807 | |
Poor speech | 0002465 | |
Short philtrum | 0000322 | |
Squint eyes
Squint
Cross-eyed
[ more ]
|
0000486 | |
Thin upper lip vermilion |
Thin upper lip
|
0000219 |
Wide mouth |
Broad mouth
Large mouth
[ more ]
|
0000154 |
5%-29% of people have these symptoms | ||
Autistic behavior | 0000729 | |
Broad distal phalanx of finger |
Broad outermost finger bone
|
0009836 |
Chronic constipation |
Infrequent bowel movements
|
0012450 |
Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ]
|
0000490 |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
|
0005280 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
Frontal bossing | 0002007 | |
High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Hypospadias | 0000047 | |
Inappropriate laughter | 0000748 | |
Incomprehensible speech | 0002546 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ]
|
0001388 |
Long palpebral fissure |
Broad opening between the eyelids
Long opening between the eyelids
Wide opening between the eyelids
[ more ]
|
0000637 |
Long toe |
Increased length of toes
Long toes
[ more ]
|
0010511 |
Low frustration tolerance | 0000744 | |
Lower limb |
0002061 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Narrow palpebral fissure |
Small opening between the eyelids
|
0045025 |
Obsessive-compulsive |
Obsessive-compulsive traits
|
0008770 |
Optic nerve hypoplasia | 0000609 | |
Periorbital fullness |
Puffiness around eye
|
0000629 |
Self-mutilation |
Deliberate self-harm
Self mutilation
[ more ]
|
0000742 |
Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ]
|
0002360 |
Tics |
Tic disorder
|
0100033 |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
Widely-spaced maxillary central incisors |
Gap between upper front teeth
Wide gap between upper central incisors
Widely spaced upper incisors
[ more ]
|
0001566 |
1%-4% of people have these symptoms | ||
Language impairment | 0002463 | |
Sparse hair | 0008070 | |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Hypermetropia |
Farsightedness
Long-sightedness
[ more ]
|
0000540 |
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ]
|
0003593 |
Neonatal hypotonia |
Low muscle tone, in neonatal onset
|
0001319 |
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 |
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.
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.
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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