Mowat-Wilson syndrome (OMIM 235730) is a genetic condition characterized by 
moderate-to-severe intellectual disability, a recognizable facial phenotype, and 
multiple congenital anomalies. The striking facial phenotype in addition to 
other features such as severely impaired speech, hypotonia, microcephaly, short 
stature, seizures, corpus callosum agenesis, congenital heart defects, 
hypospadias, and Hirschsprung disease are particularly important clues for the 
initial clinical diagnosis. All molecularly confirmed cases with typical MWS 
have a heterozygous loss-of-function mutation in the zinc finger E-box protein 2 
(ZEB2) gene, also called SIP1 (Smad-interacting protein 1) and ZFHX1B, 
suggesting that haploinsufficiency is the main pathological mechanism. 
Approximately 80% of mutations are nonsense and frameshift mutations (small 
insertions or deletions). About half of these mutations are located in exon 
eight. Here, we report the first Indonesian patient with Mowat-Wilson syndrome 
confirmed by molecular analysis.