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 |
|---|---|---|
| 1%-4% of people have these symptoms | ||
| Abnormal facial shape |
Unusual facial appearance
|
0001999 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of eye movement |
Abnormal eye movement
Abnormal eye movements
Eye movement abnormalities
Eye movement issue
[ more ]
|
0000496 |
| Agenesis of |
0001274 | |
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
| Apneic episodes precipitated by illness, fatigue, stress | 0002872 | |
| Basal ganglia cysts | 0006799 | |
| Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
| Choreoathetosis | 0001266 | |
| Chronic lactic acidosis | 0004925 | |
| Decreased activity of the pyruvate dehydrogenase complex | 0002928 | |
| 0001332 | ||
| Episodic |
0002131 | |
| Flared nostrils | 0000454 | |
| Frontal bossing | 0002007 | |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Global |
0001263 | |
| Hyperalaninemia |
Increased blood alanine
Increased serum alanine
[ more ]
|
0003348 |
| Increased CSF lactate | 0002490 | |
| Increased serum lactate | 0002151 | |
| Infantile onset |
Onset in first year of life
Onset in infancy
[ more ]
|
0003593 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Lethargy | 0001254 | |
| Long philtrum | 0000343 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
| Psychomotor retardation | 0025356 | |
|
Drooping upper eyelid
|
0000508 | |
| 0001250 | ||
| Severe lactic acidosis | 0004900 | |
| Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ]
|
0001518 |
| Ventriculomegaly | 0002119 | |
| 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 |
| 0001423 | ||
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.
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.
