Orpha Number: 324422
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 | ||
| Infantile spasms | 0012469 | |
| 30%-79% of people have these symptoms | ||
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Hypsarrhythmia | 0002521 | |
| Long philtrum | 0000343 | |
| 5%-29% of people have these symptoms | ||
| Abnormal facial shape |
Unusual facial appearance
|
0001999 |
| Abnormal pyramidal sign | 0007256 | |
| Abnormality of lateral ventricle | 0030047 | |
| Adducted thumb |
Inward turned thumb
|
0001181 |
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
| 0000717 | ||
| Clumsiness | 0002312 | |
| Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
|
0100543 |
| Decreased body weight |
Decreased weight
Low body weight
Low weight
Weight less than 3rd percentile
[ more ]
|
0004325 |
| 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 |
| Flexion |
0001371 | |
| Global brain atrophy |
Generalized brain degeneration
|
0002283 |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Poor eye contact | 0000817 | |
| Poor head control | 0002421 | |
| Short chin |
Decreased height of chin
Short lower third of face
[ more ]
|
0000331 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of extrapyramidal motor function | 0002071 | |
| Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
| Delayed myelination | 0012448 | |
| Global |
0001263 | |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Horizontal nystagmus | 0000666 | |
| Infantile onset |
Onset in first year of life
Onset in infancy
[ more ]
|
0003593 |
|
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Optic atrophy | 0000648 | |
| Recurrent infections |
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ]
|
0002719 |
|
Seizure
|
0001250 | |
| Type I transferrin isoform profile | 0003642 | |
| 0001423 | ||
| 0001419 | ||
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.
NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018
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