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|
|5%-29% of people have these symptoms|
Psychiatric disturbances[ more ]
|Delayed speech and language development||
Deficiency of speech development
Delayed language development
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay[ more ]
|Elevated hepatic transaminase||
High liver enzymes
|Failure to thrive||
Weight faltering[ more ]
|Focal impaired awareness
|Generalized clonic seizure||0011169|
Low blood sugar
Poor memory[ more ]
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference[ more ]
Intermittent migraine headaches
Migraine headaches[ more ]
Low muscle tone in trunk
|Nasogastric tube feeding||0040288|
|Percent of people who have these symptoms is not available through HPO|
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.
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