2q32q33 deletion syndrome

A rare partial autosomal deletion syndrome characterized by a variable phenotype including moderate to severe intellectual disability, behavioral problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features. The deletion typically includes the gene <i>SATB2</i>, and patients present with the typical features of SATB2-associated syndrome, with the addition of a variable pattern of cardiovascular, genitourinary, and ectodermal congenital a