Orpha Number: 448010
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 |
|---|---|---|
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal glycosylation | 0012345 | |
| Acanthocytosis | 0001927 | |
|
Low number of red blood cells or hemoglobin
|
0001903 | |
| Anisopoikilocytosis | 0004823 | |
| 0000007 | ||
| Brain atrophy |
Brain degeneration
Brain wasting
[ more ]
|
0012444 |
| Broad-based gait |
Wide based walk
|
0002136 |
|
Loss of developmental milestones
Mental deterioration in childhood
[ more ]
|
0002376 | |
| Epileptic |
0200134 | |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Global |
0001263 | |
| Hyperammonemia |
High blood ammonia levels
|
0001987 |
| Infantile onset |
Onset in first year of life
Onset in infancy
[ more ]
|
0003593 |
| Poor speech | 0002465 | |
| Progressive |
Worsens with time
|
0003676 |
| Renal tubular acidosis |
Accumulation of acid in body due to kidney problem
|
0001947 |
| Schistocytosis | 0001981 | |
| Status epilepticus |
Repeated seizures without recovery between them
|
0002133 |
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.
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