OBO ID: DOID:0080926 |
Term Name: | 7q11.23 duplication syndrome | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
Definition: | A chromosomal duplication syndrome that is characterized by motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facial dysmorphism, seizures, brain abnormalities, and heart defects such as enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation) and that has_material_basis_in an extra copy of a region of the long arm of chromosome 7. (2) | ||
References: |
|
||
Ontology: | Human Disease ( DOID:0080926 ) |
OTHER 7q11.23 duplication syndrome PAGES
GENES INVOLVED
No data available
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.