Search Ontology:
Human Disease

congenital facial palsy with ptosis and velopharyngeal dysfunction

Term ID
DOID:0070743
Synonyms
  • FPVEPD
Definition
A syndrome characterized by variable congenital nonprogressive bilateral facial palsy, velopharyngeal dysfunction, and ptosis, without limitation of ocular abduction, limb abnormalities, or impaired cognition that has_material_basis_in heterozygous mutation in the TUBB6 gene on chromosome 18p11. https://pubmed.ncbi.nlm.nih.gov/29016863/
References
Ontology
Human Disease   ( DOID:0070743 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
Your Input Welcome
We welcome your input and comments. Please use this form to report issues or recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
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.