Synopsis

 mild-to-moderate mental retardation
 slightly dysmorphic facial features

• long and narrow face
• short philtrum
• high nasal bridge
• autism
• gait ataxia
• chest-wall deformity
• long and tapering fingers

 microcephaly
 cleft lip and palate
 horseshoe kidney
 hypospadias
 ligamentous laxity
 recurrent middle ear infections
 abnormal pigmentation

Genes involved

 The deletion encompasses 22 genes, including

• PAK2
• DLG1

References

 Willatt L, Cox J, Barber J, Cabanas ED, Collins A, Donnai D, Fitzpatrick DR, Maher E, Martin H, Parnau J, Pindar L, Ramsay J, Shaw-Smith C, Sistermans EA, Tettenborn M, Trump D, de Vries BB, Walker K, Raymond FL. 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. Am J Hum Genet. 2005 Jul;77(1):154-60. PMID: #15918153#