Disease_Mapped_To_Gene Cellosaurus Disease Terminology Syndrome Rare Non-Neoplastic Disorder Mowat-Wilson Syndrome Mowat_Wilson_Syndrome Cellosaurus Disease or Syndrome Mowat-Wilson Syndrome C74999 C1856113 A rare autosomal dominant syndrome caused by mutations in the ZEB2 gene. It is characterized by mental retardation, and a distinctive facial appearance (wide set eyes, uplifted earlobes, broad nasal bridge, prominent chin, and a smiling expression). The majority of patients have Hirschsprung disease (colonic enlargement and constipation due to intestinal blockage). Mowat-Wilson Syndrome ZEB2 Gene