Meckel Syndrome, Type 5 (MKS5)

Meckel Syndrome, Type 5, also known as meckel syndrome 5, is related to meckel syndrome, type 4 and orofaciodigital syndrome. An important gene associated with Meckel Syndrome, Type 5 is RPGRIP1L (RPGRIP1 Like), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and Organelle biogenesis and maintenance. Affiliated tissues include kidney and cerebellum, and related phenotypes are cleft palate and cleft upper lip