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||
|80%-99% of people have these symptoms|
|Feeding difficulties in infancy||0008872|
Low or weak muscle tone
|30%-79% of people have these symptoms|
|Abnormal pyramidal sign||0007256|
|Abnormality of eye movement||
Abnormal eye movement
Abnormal eye movements
Eye movement abnormalities
Eye movement issue[ more ]
|Aplasia/Hypoplasia of the
Difficulty articulating speech
Impaired gait[ more ]
|Intrauterine growth retardation||
Prenatal growth deficiency
Prenatal growth retardation[ more ]
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference[ more ]
|Osteolytic defects of the middle phalanx of the 4th toe||0100453|
Involuntary muscle stiffness, contraction, or spasm
Increased respiratory rate or depth of breathing
|5%-29% of people have these symptoms|
Prominent eye folds[ more ]
Increased palatal height[ more ]
Widely spaced eyes[ more ]
Multiple fatty lumps
Decreased breadth of face
Decreased width of face[ more ]
Triangular skull shape
Wedge shaped skull[ more ]
|Upslanted palpebral fissure||
Upward slanting of the opening between the eyelids
|Wide nasal bridge||
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge[ more ]
|1%-4% of people have these symptoms|
|Abnormal facial shape||
Unusual facial appearance
|Percent of people who have these symptoms is not available through HPO|
|Agenesis of corpus callosum||0001274|
Nasal tip, upturned
Upturned nasal tip
Upturned nostrils[ more ]
|Apneic episodes precipitated by illness, fatigue, stress||0002872|
|Basal ganglia cysts||0006799|
Degeneration of cerebrum
|Chronic lactic acidosis||0004925|
|Decreased activity of the pyruvate dehydrogenase complex||0002928|
Decreased muscle tone
Low muscle tone[ more ]
Increased blood alanine
Increased serum alanine[ more ]
|Increased CSF lactate||0002490|
|Increased serum lactate||0002151|
Onset in first year of life
Onset in infancy[ more ]
Mental retardation, nonspecific
Mental-retardation[ more ]
Drooping upper eyelid
|Severe lactic acidosis||0004900|
|Small for gestational age||
Birth weight less than 10th percentile
Low birth weight[ more ]
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
Differential diagnosis includes other causes of primary lactic acidosis (pyruvate carboxylase deficiency, defects of gluconeogenesis and a wide range of mitochondrial diseases). In patients presenting as Leigh syndrome, the differential diagnosis includes various forms of Complex I deficiency (see this term), cytochrome oxidase deficiency due to mutation in the SURF1 gene and a number of mitochondrial DNA mutations.
Visit the Orphanet disease page for more information.
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.
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.