Term Name: ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
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 )

Relationships
is a type of: EEC syndrome