Orpha Number: 263501
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 |
0012358 | |
| 30%-79% of people have these symptoms | ||
| Abnormality of the coagulation cascade | 0003256 | |
| Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ]
|
0001344 |
| 0001251 | ||
| Cirrhosis |
Scar tissue replaces healthy tissue in the liver
|
0001394 |
| Complex febrile |
0011172 | |
| Elevated alkaline phosphatase |
Greatly elevated alkaline phosphatase
High serum alkaline phosphatase
Increased alkaline phosphatase
Increased serum alkaline phosphatase
[ more ]
|
0003155 |
| Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
| Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ]
|
0001531 |
| Feeding difficulties |
Poor feeding
Feeding problems
[ more ]
|
0011968 |
| Frontotemporal cerebral atrophy | 0006892 | |
| Generalized neonatal |
Generalized low muscle tone in neonate
|
0008935 |
| Global |
0001263 | |
| Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ]
|
0001510 |
|
Enlarged liver and spleen
|
0001433 | |
| Hypercholesterolemia |
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol
[ more ]
|
0003124 |
| Hyperreflexia |
Increased reflexes
|
0001347 |
| Intermittent diarrhea | 0002254 | |
| Irritability |
Irritable
|
0000737 |
| Limb hypertonia |
Increased muscle tone of arm or leg
|
0002509 |
|
Small head circumference
Reduced head circumference
Decreased size of skull
Decreased circumference of cranium
Abnormally small skull
[ more ]
|
0000252 | |
| Muscular hypotonia of the trunk |
Low muscle tone in trunk
|
0008936 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Recurrent upper respiratory tract infections |
Recurrent colds
|
0002788 |
| Sloping forehead |
Inclined forehead
Receding forehead
[ more ]
|
0000340 |
| Thick hair |
Increased hair density
|
0100874 |
|
Low platelet count
|
0001873 | |
| Type II transferrin isoform profile | 0012301 | |
| 5%-29% of people have these symptoms | ||
| Abnormal facial shape |
Unusual facial appearance
|
0001999 |
| Chronic diarrhea | 0002028 | |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Fatal liver failure in infancy | 0006583 | |
| Hepatic failure |
Liver failure
|
0001399 |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
| Neonatal sepsis | 0040187 | |
| Recurrent infection of the gastrointestinal tract |
Recurrent gastrointestinal infections
|
0004798 |
| Seizures |
Seizure
|
0001250 |
| Splenomegaly |
Increased spleen size
|
0001744 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Hypertonia | 0001276 | |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
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.
