Orpha Number: 280071
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 | ||
| Global |
0001263 | |
| Impaired social interactions |
Impaired social interaction
Poor social interactions
[ more ]
|
0000735 |
| Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| 0001250 | ||
| Type I transferrin isoform profile | 0003642 | |
| 30%-79% of people have these symptoms | ||
| Abnormal facial shape |
Unusual facial appearance
|
0001999 |
| Abnormality of vision |
Abnormality of sight
Vision issue
[ more ]
|
0000504 |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| Hyperreflexia |
Increased reflexes
|
0001347 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| 5%-29% of people have these symptoms | ||
| Abnormal adipose |
Abnormality of adipose tissue
Abnormality of fat tissue
Abnormality of fatty tissue
[ more ]
|
0009124 |
| 0001251 | ||
| Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
| Cerebral white matter atrophy | 0012762 | |
| Decreased corneal reflex | 0008000 | |
| Delayed myelination | 0012448 | |
| Dry skin | 0000958 | |
| 0010851 | ||
| Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
| Episodic vomiting | 0002572 | |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Gray matter heterotopia | 0002282 | |
| High forehead | 0000348 | |
| Hypokinesia |
Decreased muscle movement
Decreased spontaneous movement
Decreased spontaneous movements
[ more ]
|
0002375 |
| Inverted nipples | 0003186 | |
| Limb hypertonia |
Increased muscle tone of arm or leg
|
0002509 |
| Long philtrum | 0000343 | |
| Muscular hypotonia of the trunk |
Low muscle tone in trunk
|
0008936 |
| Opisthotonus | 0002179 | |
| Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
| 0002650 | ||
| Sensorineural hearing impairment | 0000407 | |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Temperature instability | 0005968 | |
| Widened subarachnoid space | 0012704 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ]
|
0001344 |
| 0000007 | ||
| Infantile onset |
Onset in first year of life
Onset in infancy
[ more ]
|
0003593 |
| Neonatal hypotonia |
Low muscle tone, in neonatal onset
|
0001319 |
| Psychomotor retardation | 0025356 | |
| Vomiting |
Throwing up
|
0002013 |
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.
