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Metadata
ID DOID:0111706
Name oblique facial clefting 1
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.
https://en.wikipedia.org/wiki/Craniofacial_cleft#Tessier_classification, https://www.ncbi.nlm.nih.gov/pubmed/21703590, https://www.ncbi.nlm.nih.gov/pubmed/820824
Xrefs

OMIM:600251

Synonyms

Tessier number 4 facial cleft [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a orofacial cleft

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