Orpha Number: 3077
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 | ||
Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ]
|
0000718 |
Hyperactive deep tendon reflexes | 0006801 | |
Hyperactivity |
More active than typical
|
0000752 |
Irritability |
Irritable
|
0000737 |
Macroorchidism |
Large testis
|
0000053 |
0001250 | ||
Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ]
|
0002360 |
30%-79% of people have these symptoms | ||
Anorexia | 0002039 | |
Bipolar affective disorder |
Bipolar disorder
|
0007302 |
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ]
|
0001635 |
Focal |
0011188 | |
IQ between 34 and 49
|
0002342 | |
Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 |
Lower limb hyperreflexia |
Overactive lower leg reflex
|
0002395 |
Lower limb |
0002061 | |
Decreased body height
Small stature
[ more ]
|
0004322 | |
5%-29% of people have these symptoms | ||
Abnormal fear/anxiety-related behavior | 0100852 | |
Broad-based gait |
Wide based walk
|
0002136 |
Kyphoscoliosis | 0002751 | |
Obesity |
Having too much body fat
|
0001513 |
Parkinsonism | 0001300 | |
Resting tremor |
Tremor at rest
|
0002322 |
Shuffling gait |
Shuffled walk
|
0002362 |
Stooped posture | 0025403 | |
Stroke | 0001297 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the dentition |
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ]
|
0000164 |
0001251 | ||
Babinski sign | 0003487 | |
Bruxism |
Teeth grinding
|
0003763 |
Choreoathetosis | 0001266 | |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ]
|
0000750 |
Drooling |
Dribbling
|
0002307 |
EEG abnormality | 0002353 | |
Excessive salivation |
Mouth watering
Oversalivation
Watery mouth
[ more ]
|
0003781 |
Facial |
Decreased facial muscle tone
Low facial muscle tone
Reduced facial muscle tone
[ more ]
|
0000297 |
Global |
0001263 | |
High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
Hyperreflexia |
Increased reflexes
|
0001347 |
Intellectual disability, mild |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 |
Macrotia |
Large ears
|
0000400 |
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 | |
Pes cavus |
High-arched foot
|
0001761 |
Psychosis | 0000709 | |
Short neck |
Decreased length of neck
|
0000470 |
Slow progression |
Signs and symptoms worsen slowly with time
|
0003677 |
Spastic gait |
Spastic walk
|
0002064 |
Tremor | 0001337 | |
0001419 |
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.
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.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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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