Orpha Number: 284417
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 | ||
| 0011451 | ||
| Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ]
|
0001531 |
| Hyperglycinemia |
Elevated blood glycine levels
|
0002154 |
| Hyposerinemia |
Low blood serine levels
|
0012279 |
| Inappropriate crying | 0030215 | |
| Profound global |
0012736 | |
| 30%-79% of people have these symptoms | ||
| Cerebral white matter hypoplasia | 0012430 | |
| Hyperreflexia |
Increased reflexes
|
0001347 |
| Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
| Infantile axial |
0009062 | |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
| Thickened nuchal skin fold |
Thickened skin folds of neck
Thickened skin over the neck
[ more ]
|
0000474 |
| 5%-29% of people have these symptoms | ||
| Ankle flexion |
0006466 | |
| Bilateral talipes equinovarus |
Club foot on both sides
|
0001776 |
| Cerebellar vermis hypoplasia | 0001320 | |
| 0001363 | ||
| Cyanotic episode | 0200048 | |
| Delayed myelination | 0012448 | |
| 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 |
| Dilation of lateral ventricles | 0006956 | |
| 0011196 | ||
| EEG with polyspike wave complexes | 0002392 | |
| Epileptic spasm | 0011097 | |
| Gastrostomy tube feeding in infancy | 0011471 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Ichthyosis | 0008064 | |
| Knee flexion contracture | 0006380 | |
| Lissencephaly |
Fewer or absent grooves in brain
|
0001339 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Myoclonus | 0001336 | |
| Nasogastric tube feeding | 0040288 | |
| Paroxysmal involuntary eye movements | 0007704 | |
| Short neck |
Decreased length of neck
|
0000470 |
| Simplified gyral pattern | 0009879 | |
| Sloping forehead |
Inclined forehead
Receding forehead
[ more ]
|
0000340 |
| Spastic tetraparesis | 0001285 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Feeding difficulties in infancy | 0008872 | |
| Global developmental delay | 0001263 | |
| Hypertonia | 0001276 | |
| Hypoglycinemia |
Low blood glycine levels
|
0012277 |
| Infantile onset |
Onset in first year of life
Onset in infancy
[ more ]
|
0003593 |
| Postnatal microcephaly | 0005484 | |
| Psychomotor retardation | 0025356 | |
| 0001250 | ||
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.
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