Meckel Syndrome, Type 2 (MKS2)

Meckel Syndrome, Type 2, also known as meckel syndrome 2, is related to renal-hepatic-pancreatic dysplasia and joubert syndrome 24. An important gene associated with Meckel Syndrome, Type 2 is TMEM216 (Transmembrane Protein 216), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and Organelle biogenesis and maintenance. Affiliated tissues include kidney and liver, and related phenotypes are renal cyst and bile duct proliferation