Orpha Number: 95428
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 |
|---|---|---|
| 30%-79% of people have these symptoms | ||
| 0001251 | ||
| Chronic axonal neuropathy | 0007267 | |
|
Loss of developmental milestones
Mental deterioration in childhood
[ more ]
|
0002376 | |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Food intolerance | 0012537 | |
| Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
|
Mental-retardation
Mental retardation, nonspecific
Mental retardation
Mental deficiency
[ more ]
|
0001249 | |
| Poor head control | 0002421 | |
| Poor speech | 0002465 | |
| 0002243 | ||
| 0001250 | ||
| Severe global |
0011344 | |
| Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
| 5%-29% of people have these symptoms | ||
| Acute |
0006846 | |
| Alternating esotropia |
Alternating cross eyes
|
0001137 |
| Atrophy/Degeneration affecting the brainstem | 0007366 | |
| Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
| Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
|
Low blood sugar
|
0001943 | |
| Myoclonus | 0001336 | |
| Progressive |
Progressively abnormally small cranium
Progressively abnormally small skull
[ more ]
|
0000253 |
| Prolonged prothrombin time | 0008151 | |
| Spontaneous hematomas | 0007420 | |
| Ventriculomegaly | 0002119 | |
| 1%-4% of people have these symptoms | ||
| Abnormal brain lactate level by MRS | 0025045 | |
| Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ]
|
0001344 |
| Bilateral coxa valga | 0010665 | |
| Clinodactyly of the 3rd toe | 0008115 | |
| Clinodactyly of the 4th toe | 0011918 | |
| Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
|
0005280 |
| Elevated serum aspartate aminotransferase | 0031956 | |
| Elevated serum creatine kinase |
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ]
|
0003236 |
| Elevated serum transaminases during infections | 0008150 | |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ]
|
0001531 |
| Finger clinodactyly | 0040019 | |
| Global developmental delay | 0001263 | |
| Interface hepatitis | 0032220 | |
| Microcephaly |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| 0002650 | ||
| Status epilepticus |
Repeated seizures without recovery between them
|
0002133 |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
| Type II transferrin isoform profile | 0012301 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Encephalopathy | 0001298 | |
| Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
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.
