NCIt definition : An autosomal dominant inherited syndrome caused by mutations in the SALL1 gene. Clinical
manifestations include imperforate anus, malformations in the ears and hands, hearing
loss, and kidney and heart abnormalities.;
Alternative definition : NICHD: An autosomal dominant syndrome caused by mutations in the SALL1 gene, and characterized
by imperforate anus, malformations in the ears and hands, hearing loss, and kidney
and heart abnormalities.;