A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies

Table 1 Clinical features of DGDP084 compared with other patients having small-sized microdeletions within the Xq22.2 interval

Clinical features	DGDP084	Yamamoto	Torisu	Inoue 2002	Inoue 2002	Inoue 2002	Matsufuji 2013
		2014 Pt5	2012	Pt 1	Pt 2	Pt 3	Pt II-1
	F	F	M	M	M	M	M
Intellectual disability	+	+	+	+	+	+	+
Speech delay	+	+	+	NS	+	+	+
Motor delay	+	+	+	+	+	+	+
Impaired social skills	+	+	-	NS	+	NS	+
Sleep disturbance	+	+	NS	NS	NS	NS	NS
Behavioral problems	+	+	NS	NS	NS	NS	NS
Seizures	+	-	NS	NS	-	NS	-
Craniofacial anomalies	+	+	+	NS	NS	NS	NS
Tapering fingers & clinodactyly	+	-	NS	NS	NS	NS	NS
Brain MRI – delayed myelination	-	+	+	+	+	NS	+
Cardiac anomalies	+	-	NS	NS	NS	NS	NS
Gastrointestinal problems	+	-	NS	NS	NS	+	+

ISSN: 1471-2377