While the complete etiology is not fully known,<unk>  arises in part due to mutations on the TBX22 gene, a gene that is located on the X-chromosome (around 80,014,753 to 80,031,774 bp), and is inherited in an X-linked recessive manner. The T-box transcription factor TBX22 plays an essential role in normal craniofacial development. Nonsense, frameshift, splice-site and missense mutations in this region can result in patients with X-linked cleft palate (CPX) and ankyloglossia phenotypes. The CPX phenotype observed in individuals with<unk>  most likely results from a loss of protein function as severely truncated proteins can result from the introduction of a premature stop codon can result from nonsense, splice-site, or frame shift sequence changes, while missense mutations in this region have less of a structural effect on the protein, but instead interferes with DNA binding and transcriptional activity.
Abruzzo–Erickson syndrome
XMEN disease
Fanconi–Bickel syndrome
Smith–Fineman–Myers syndrome
Schwartz–Matsuo syndrome
Sanjad-Sakati syndrome
MELAS syndrome
Fitzsimmons–Guilbert syndrome