Term Name: | ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 |
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Synonyms: | EEC syndrome 3, EEC3 |
Definition: | An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. |
Ontology: | Human Disease [DOID:0060783] ( DOID:0060783 ) |