We are now offering full gene sequencing and deletion/duplication analysis for Mowat-Wilson syndrome. Mowat-Wilson syndrome is characterized by distinctive facial features, which in young children include hypertelorism, medially flared and broad eyebrows, prominent or pointed chin, uplifted earlobes and an opened mouth expression. Individuals with MWS also present with moderate-to-severe mental retardation, seizures and microcephaly. Congenital anomalies are also common, including Hirschsprung disease, genitourinary anomalies, congenital heart defects, agenesis of the corpus callosum and eye anomalies.