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 | ||
| Abnormal pyramidal sign | 0007256 | |
| Abnormality of extrapyramidal motor function | 0002071 | |
| Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
|
Loss of developmental milestones
Mental deterioration in childhood
[ more ]
|
0002376 | |
|
Difficulty articulating speech
|
0001260 | |
|
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 | |
| Hyperintensity of cerebral white matter on |
0030890 | |
| 30%-79% of people have these symptoms | ||
| Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ]
|
0001344 |
| Dysphasia | 0002357 | |
| 0001332 | ||
| 0002353 | ||
| Gait |
Inability to coordinate movements when walking
|
0002066 |
| Global |
0001263 | |
| Inability to walk | 0002540 | |
|
IQ less than 20
|
0002187 | |
| Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| 0001250 | ||
|
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
| 5%-29% of people have these symptoms | ||
| Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ]
|
0000718 |
| Autistic behavior | 0000729 | |
| Chorea | 0002072 | |
| Gastrostomy tube feeding in infancy | 0011471 | |
| Hyperactivity |
More active than typical
|
0000752 |
| Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
| Impaired pain sensation |
Decreased pain sensation
|
0007328 |
| Impulsivity |
Impulsive
|
0100710 |
| Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
| Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
| Limb hypertonia |
Increased muscle tone of arm or leg
|
0002509 |
| Pectus carinatum |
Pigeon chest
|
0000768 |
| Ventriculomegaly | 0002119 | |
| 1%-4% of people have these symptoms | ||
| Ataxia | 0001251 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| Axonal loss | 0003447 | |
| Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
| Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
| Decreased body weight |
Decreased weight
Low body weight
Low weight
Weight less than 3rd percentile
[ more ]
|
0004325 |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
| Mental deterioration |
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ]
|
0001268 |
| Neurodegeneration |
Ongoing loss of nerve cells
|
0002180 |
| Parkinsonism | 0001300 | |
| Peripheral demyelination | 0011096 | |
| Rigidity |
Muscle rigidity
|
0002063 |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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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