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 | ||
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal facial shape |
Unusual facial appearance
|
0001999 |
| Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ]
|
0001344 |
| 0000006 | ||
| Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ]
|
0001321 |
| Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
| Chorea | 0002072 | |
| 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 |
|
Loss of developmental milestones
Mental deterioration in childhood
[ more ]
|
0002376 | |
| 0001332 | ||
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Global |
0001263 | |
| Hemiparesis |
Weakness of one side of body
|
0001269 |
| Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
| Inability to walk | 0002540 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Limb hypertonia |
Increased muscle tone of arm or leg
|
0002509 |
| Macrotia |
Large ears
|
0000400 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Smooth philtrum | 0000319 | |
| Status epilepticus |
Repeated seizures without recovery between them
|
0002133 |
| Thin upper lip vermilion |
Thin upper lip
|
0000219 |
| 0003828 | ||
| Ventriculomegaly | 0002119 | |
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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