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 )

Relationships
is a type of: autosomal dominant disease syndrome