Chromosomal sites: 2q32, 2q33, 2q33.1, 2q32q33, 2q33q34
Implicated gene: SATB2 (SATB homeobox 2)
Clinical features:
(1) learning disabilities
(2) speech delays
(3) growth retardation
(4) dysmorphic facial features (micrognathia, dental anomalies)
(5) cleft and/or high palate
(6) feeding difficulties in infancy
(7) hypotonia
(8) behavioral issues
(9) variable congenital heart defects
(10) variable genitourinary anomalies
(11) variable skeletal anomalies
