DISEASES

Disease-gene associations mined from literature

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,  DOID:0060783,  and cleft lip-palate syndrome 3 ectrodactyly, ectodermal dysplasia,  ectrodactyly ectodermal dysplasia and cleft lippalate syndrome 3,  EEC syndrome 3 ...