TBS is caused by pathogenic variants (mutations) in the KCNH1 gene at chromosomal locus 1q32.2, (GRCh38): 1:210,678,313-211,134,147. It has an autosomal dominant transmission, however affected individuals are not known to reproduce, so all reported cases have been caused by de novo mutations or transmission from a mosaic parent.
Temple–Baraitser syndrome
Catel–Manzke syndrome
Neu–Laxova syndrome
Nance–Horan syndrome
Parkes Weber syndrome
Bart–Pumphrey syndrome
Valentino's syndrome
Nicolau–Balus syndrome