Term Name: | cleft lip-palate-ectodermal dysplasia syndrome |
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Synonyms: | cleft lip/palate-syndactyly-pili torti syndrome, CLPED1, Margarita type of ectodermal dysplasia, syndactyly-ectodermal dysplasia-cleft/lip palate, Zlotogora-Zilberman-Tenenbaum syndrome |
Definition: | A syndrome characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23. |
Ontology: | Human Disease [DOID:0060773] ( DOID:0060773 ) |