Mowat-Wilson Syndrome
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). [ ]
Term info
Mowat-Wilson Syndrome
- Mowat-Wilson Syndrome
Mowat_Wilson_Syndrome
Mowat-Wilson Syndrome
Disease or Syndrome
C1856113
C74999