OBO ID: DOID:0111706
Term Name: oblique facial clefting 1 Search Ontology:
Synonyms:
  • Tessier number 4 facial cleft
Definition: An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lateral to the inferior punctum that has_material_basis_in heterozygous mutation in SPECC1L on chromosome 22q11.23. (3)
References:
Ontology: Human Disease   (DOID:0111706)
OTHER oblique facial clefting 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SPECC1L ?Facial clefting, oblique, 1 600251
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)