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 | ||
| 0001298 | ||
| 30%-79% of people have these symptoms | ||
| 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 |
|
Loss of developmental milestones
Mental deterioration in childhood
[ more ]
|
0002376 | |
| 0010844 | ||
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Global |
0001263 | |
| Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ]
|
0001265 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| 5%-29% of people have these symptoms | ||
| Abnormal |
0001273 | |
| Abnormal myelination | 0012447 | |
| 0001251 | ||
| Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ]
|
0007018 |
| 0000717 | ||
| Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
| Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 |
| Difficulty walking |
Difficulty in walking
|
0002355 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Dyskinesia |
Disorder of involuntary muscle movements
|
0100660 |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
| Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
| High forehead | 0000348 | |
| Hypodontia |
Failure of development of between one and six teeth
|
0000668 |
| Hypsarrhythmia | 0002521 | |
| Impulsivity |
Impulsive
|
0100710 |
| Mental deterioration |
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ]
|
0001268 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Myoclonus | 0001336 | |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Poor head control | 0002421 | |
|
Drooping upper eyelid
|
0000508 | |
| Rigidity |
Muscle rigidity
|
0002063 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
|
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
| Tremor | 0001337 | |
| Unsteady gait |
Unsteady walk
|
0002317 |
| 1%-4% of people have these symptoms | ||
| Abnormality of vision |
Abnormality of sight
Vision issue
[ more ]
|
0000504 |
| Limb hypertonia |
Increased muscle tone of arm or leg
|
0002509 |
| Optic atrophy | 0000648 | |
| Retinal degeneration |
Retina degeneration
|
0000546 |
| Status epilepticus |
Repeated seizures without recovery between them
|
0002133 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the cerebral white matter | 0002500 | |
| Amelogenesis imperfecta | 0000705 | |
| 0000007 | ||
| Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
|
0000684 |
| Delayed myelination | 0012448 | |
| Epileptic encephalopathy | 0200134 | |
| Involuntary movements |
Involuntary muscle contractions
|
0004305 |
| Multifocal |
0031165 | |
| Muscular hypotonia of the trunk |
Low muscle tone in trunk
|
0008936 |
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.
