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 |
|---|---|---|
| 5%-29% of people have these symptoms | ||
| 0001251 | ||
| Myoclonus | 0001336 | |
| Optic atrophy | 0000648 | |
| Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
| 1%-4% of people have these symptoms | ||
| 0001250 | ||
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of extrapyramidal motor function | 0002071 | |
| Abnormality of mitochondrial metabolism | 0003287 | |
| Abnormality of the periventricular white matter | 0002518 | |
| Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ]
|
0001344 |
| Arthrogryposis multiplex congenita | 0002804 | |
| 0000007 | ||
| Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
| Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
|
0100543 |
|
Symptoms present at birth
|
0003577 | |
| Death in infancy |
Infantile death
Lethal in infancy
[ more ]
|
0001522 |
| Decreased activity of mitochondrial respiratory chain | 0008972 | |
|
Loss of developmental milestones
Mental deterioration in childhood
[ more ]
|
0002376 | |
| Dilated |
Stretched and thinned heart muscle
|
0001644 |
| Edema |
Fluid retention
Water retention
[ more ]
|
0000969 |
| 0001298 | ||
| Epileptic encephalopathy | 0200134 | |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Global |
0001263 | |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hyperreflexia |
Increased reflexes
|
0001347 |
| 0000822 | ||
| Hypertrophic cardiomyopathy |
Enlarged and thickened heart muscle
|
0001639 |
| Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
| Infantile onset |
Onset in first year of life
Onset in infancy
[ more ]
|
0003593 |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
| Irritability |
Irritable
|
0000737 |
| Lactic acidosis |
Increased lactate in body
|
0003128 |
| Lethargy | 0001254 | |
| Leukodystrophy | 0002415 | |
| Metabolic acidosis | 0001942 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Muscle weakness |
Muscular weakness
|
0001324 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
| Polymicrogyria |
More grooves in brain
|
0002126 |
| Poor head control | 0002421 | |
| Progressive |
Worsens with time
|
0003676 |
| Psychomotor retardation | 0025356 | |
| Pulmonary arterial hypertension |
Increased blood pressure in blood vessels of lungs
|
0002092 |
| Recurrent fever |
Episodic fever
Increased body temperature, episodic
Intermittent fever
[ more ]
|
0001954 |
| Respiratory failure | 0002878 | |
| Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
| Severe muscular hypotonia |
Severely decreased muscle tone
|
0006829 |
| Spastic tetraplegia | 0002510 | |
|
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
| 0003828 | ||
| Vegetative state | 0031358 | |
| Vomiting |
Throwing up
|
0002013 |
| Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ]
|
0006610 |
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.
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.
NORD RareLaunch® Workshops
December 1, 2020
Rare Diseases Are Not Rare - Gallery of Creative Work Raises Awareness of Rare Diseases
September 1, 2020
NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020
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