Meckel Syndrome, Type 6 (MKS6)

Meckel Syndrome, Type 6, also known as meckel syndrome 6, is related to encephaloceles and joubert syndrome 13. An important gene associated with Meckel Syndrome, Type 6 is CC2D2A (Coiled-Coil And C2 Domain Containing 2A), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and Organelle biogenesis and maintenance. Affiliated tissues include kidney and lung, and related phenotypes are abnormal internal genitalia and hepatic fibrosis