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Human Disease

ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

Term ID
DOID:0060783
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. (2)
References
Ontology
Human Disease   ( DOID:0060783 )
Relationships
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Genes Involved
Zebrafish Models