Term Name: | ankyloblepharon-ectodermal defects-cleft lip/palate syndrome |
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Synonyms: | AEC syndrome, ankyloblepharon-ectodermal defects-cleft lip and palate syndrome, Hay-Wells syndrome |
Definition: | An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27. |
Ontology: | Human Disease [DOID:0090119] ( DOID:0090119 ) |