TABLE 2.

Comparison of male phenotypes with different Xq28 duplications

	MECP2/IRAK	K/L (GDI1)	Int22h-1/int22h-2 (RAB39B)
Intellectual disability	Typically severe (94–99%), with mild cases occasionally reported—speech severely limited, usually absent (70–88%)	Mild to severe, dependent on gene dosage—speech affected but not absent	Mild to moderate—speech affected but not absent
Behavior disturbances	Consistent with severe ID—hand stereotypies, teeth grinding, etc.	Common (40%)—shyness most commonly reported	Common (64%)—aggression most commonly reported
Epilepsy	43–54%	Some risk, dependent on gene dosage	Not reported
Spasticity	59–64%	At least some risk	Not reported
Immune dysfunction or recurrent infections	Recurrent severe respiratory infections (72–78%)	No apparent predisposition	Frequent sino-pulmonary infections (71%) atopic disease (43%)
Gastrointestinal problems	Majority, many require gastrostomy	Not reported—PO feeding maintained	Not reported—PO feeding maintained
Symptoms of female carriers	Unaffected to severe cognitive impairment	Learning problems with predisposition for psychiatric illness; Possibly unaffected	Learning problems with predisposition for psychiatric illness; Possibly unaffected

Andersen et al. (2014); Bijlsma et al. (2012); El-Hattab et al. (2011); El-Hattab et al. (2015); Lim, Downs, Wong, Ellaway, and Leonard (2016); Ramocki, Tavyev, and Peters (2010); Van Esch (2011); Vandewalle et al. (2009); Vanmarsenille et al. (2014).