DISEASES

Disease-gene associations mined from literature

Human genes for cleft lip-palate-ectodermal dysplasia syndrome

Cleft lip-palate-ectodermal dysplasia syndrome [DOID:0060773]

A syndrome characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23.

Synonyms:  cleft lip-palate-ectodermal dysplasia syndrome,  cleft lippalateectodermal dysplasia syndrome,  cleft lip-palate-ectodermal dysplasia disease,  cleft lip-palate-ectodermal dysplasia disorder,  cleft lip-palate-ectodermal dysplasia syndromes ...