OBO ID: DOID:14737 |
Term Name: | craniofrontonasal syndrome | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
Definition: | A syndrome that has_material_basis_in mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton. (2) | ||
References: |
|
||
Ontology: | Human Disease ( DOID:14737 ) |
OTHER craniofrontonasal syndrome PAGES
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.