| Term Name: | congenital facial palsy with ptosis and velopharyngeal dysfunction |
|---|---|
| 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. |
| Ontology: | Human Disease [DOID:0070743] ( DOID:0070743 ) |