Meckel Syndrome, Type 4 (MKS4)

Meckel Syndrome, Type 4, also known as meckel syndrome 4, is related to juvenile nephronophthisis and cystic kidney disease. An important gene associated with Meckel Syndrome, Type 4 is CEP290 (Centrosomal Protein 290), 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 hydrocephalus and bowing of the long bones