- Cleft palate (HP:0000175, a Human Phenotype Ontology term): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: TAS. (OMIM:179400)
- Cleft upper lip (HP:0000204, a Human Phenotype Ontology term): A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. Evidence: TAS. (OMIM:179400)
- Absent radius (HP:0003974, a Human Phenotype Ontology term): Missing radius bone associated with congenital failure of development. Evidence: TAS. (OMIM:179400)
These phenotypes are associated with the disease radius, aplasia of, with cleft lip/palate (OMIM:179400, an entry in Online Mendelian Inheritance in Man).