Human genes for ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [DOID:0060783]
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.
Synonyms: ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, and cleft lip-palate syndrome 3 ectrodactyly, ectodermal dysplasia, DOID:0060783, ectrodactyly ectodermal dysplasia and cleft lippalate syndrome 3, and cleft lippalate syndrome 3 ectrodactyly ectodermal dysplasia ...