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 urinary acylglycine profile | 0012073 | |
| 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 | |
| Elevated urinary 3-hydroxybutyric acid | 0040155 | |
| Global |
0001263 | |
|
IQ between 34 and 49
|
0002342 | |
| Progressive visual loss |
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive
[ more ]
|
0000529 |
| 0001250 | ||
| Specific learning disability | 0001328 | |
| 5%-29% of people have these symptoms | ||
| Abnormal social behavior |
Abnormal social behaviour
|
0012433 |
| 0001251 | ||
| Autistic behavior | 0000729 | |
| Choreoathetosis | 0001266 | |
| Chronic lactic acidosis | 0004925 | |
|
Difficulty articulating speech
|
0001260 | |
| Focal white matter lesions | 0007042 | |
| Frontotemporal cerebral atrophy | 0006892 | |
| Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ]
|
0001288 |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
| Myoclonus | 0001336 | |
| Optic atrophy | 0000648 | |
| Short attention span |
Poor attention span
Problem paying attention
[ more ]
|
0000736 |
| 1%-4% of people have these symptoms | ||
| Drooling |
Dribbling
|
0002307 |
|
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 | |
| Gastrointestinal dysmotility | 0002579 | |
| Hyperreflexia |
Increased reflexes
|
0001347 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Nasogastric tube feeding in infancy | 0011470 | |
| Nonprogressive |
0007030 | |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Postnatal growth retardation |
Growth delay as children
|
0008897 |
| Rigidity |
Muscle rigidity
|
0002063 |
| Spastic paraparesis | 0002313 | |
| Tremor | 0001337 | |
| Ventriculomegaly | 0002119 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal mitochondrial morphology | 0008322 | |
| Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ]
|
0000718 |
| Agitation | 0000713 | |
| Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Hypertrophic |
Enlarged and thickened heart muscle
|
0001639 |
|
Low blood sugar
|
0001943 | |
| Infantile onset |
Onset in first year of life
Onset in infancy
[ more ]
|
0003593 |
| Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 |
| Lactic acidosis |
Increased lactate in body
|
0003128 |
| Metabolic acidosis | 0001942 | |
| Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
| Progressive neurologic deterioration |
Worsening neurological symptoms
|
0002344 |
| Restlessness | 0000711 | |
| Retinal degeneration |
Retina degeneration
|
0000546 |
| Sensorineural hearing impairment | 0000407 | |
| Spastic tetraplegia | 0002510 | |
| Visual loss |
Loss of vision
Vision loss
[ more ]
|
0000572 |
| 0001423 | ||
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.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
|
Conditions with similar signs and symptoms from Orphanet
|
|---|
|
Biochemical abnormalities may resemble beta-ketothiolase deficiency. Clinical abnormalities are similar in other disorders affecting mtDNA transcript processing, in particular ELAC2-associated disease (combined oxidative phosphorylation defect type 17).
Visit the
Orphanet disease page
for more information.
|
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.
