Meckel Syndrome 13 (MKS13)

Meckel Syndrome 13, also known as joubert syndrome 29, is related to orofaciodigital syndrome xvi and orofaciodigital syndrome. An important gene associated with Meckel Syndrome 13 is TMEM107 (Transmembrane Protein 107). Affiliated tissues include liver and kidney, and related phenotypes are intellectual disability and ataxia