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oblique facial clefting 1
Summary
- Synonym
-
- 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 the SPECC1L gene on chromosome 22q11.23.
- Super Class
- autosomal dominant disease orofacial cleft
External Links
- Disease Ontology
- DOID:0111706
- Mondo Disease Ontology
- OMIM
