Mutations in CC2D2A (coiled-coil and C2-domains containing protein 2A) are the second most common genetic cause for the ciliopathy, Joubert syndrome [77,78], and can also result in the genetically related Meckel syndrome, which is a perinatal-lethal disorder characterized by encephalocele, polydactyly, cystic kidneys and liver fibrosis [79]. The gene discussed is CC2D2A; the disease is Encephalocele.