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 | ||
| Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
| Generalized hyperpigmentation | 0007440 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Numerous |
0005603 | |
|
Seizure
|
0001250 | |
| Thickened skin |
Thick skin
|
0001072 |
| 5%-29% of people have these symptoms | ||
| Abnormality of neuronal migration | 0002269 | |
| Abnormality of retinal pigmentation | 0007703 | |
| Aplasia/Hypoplasia of the cerebellum |
Absent/small cerebellum
Absent/underdeveloped cerebellum
[ more ]
|
0007360 |
| Arachnoid cyst |
Fluid-filled sac located in membrane surrounding brain or spinal cord
|
0100702 |
| Arnold-Chiari malformation | 0002308 | |
| Behavioral abnormality |
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ]
|
0000708 |
| Chorioretinal coloboma |
Birth defect that causes a hole in the innermost layer at the back of the eye
|
0000567 |
| Choroid plexus papilloma | 0200022 | |
| Cranial nerve paralysis | 0006824 | |
| Dandy-Walker malformation | 0001305 | |
| Death in infancy |
Infantile death
Lethal in infancy
[ more ]
|
0001522 |
| 0002353 | ||
| Encephalitis |
Brain inflammation
|
0002383 |
| Global |
0001263 | |
| Hemiparesis |
Weakness of one side of body
|
0001269 |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Intracranial hemorrhage |
Bleeding within the skull
|
0002170 |
| 0002861 | ||
| Meningioma | 0002858 | |
| Meningocele | 0002435 | |
| Renal hypoplasia/aplasia |
Absent/small kidney
Absent/underdeveloped kidney
[ more ]
|
0008678 |
| Syringomyelia |
Fluid-filled cyst in spinal cord
|
0003396 |
| Venous thrombosis |
Blood clot in vein
|
0004936 |
| Percent of people who have these symptoms is not available through HPO | ||
| Mental deterioration |
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ]
|
0001268 |
| Sporadic |
No previous family history
|
0003745 |
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.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
|
Conditions with similar signs and symptoms from Orphanet
|
|---|
|
Differential diagnosis includes primary central nervous system melanoma, meningeal melanocytoma (see these terms), idiopathic hydrocephalus, idiopathic epilepsy, and meningeal melanoma.
Visit the
Orphanet disease page
for more information.
|
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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