Table 1.

Comparison between features of our patient and reported patients with 17p13.3 deletion

	Deletion size, Mb	DD/ID	Structural brain abnormalitiesa	IUGR/growth retardation	Craniofacial dysmorphism	CP	Deletion HIC1	Deletion OVCA1
Present case	2.12	+	–	+	+	+	+	+
Nagamani et al., 2009
Case 2	1.06	+	+	+	+	–	+	+
Case 3	1.62	+	–	+	+	–	–	–
Case 4	1.64	+	+	+	+	–	+	+
Case 5	2.26	+	+	+	+	+	+	+
Bruno et al., 2010
Case 1	1.07	+	+	+	+	–	+	+
Case 2	2.07	+	+	+	+	+	+	+
Case 3	0.33	+	ND	+	–	–	–	–
Case 4	1.42	+	+	+	–	–	+	+
Case 5	1.03	+	ND	–	–	–	+	+
Case 7	1.80	+	ND	+	–	–	–	–
Schiff et al., 2010
Case A	2.18	+	+	+	+	–	+	+
Case B	1.99	+	+	+	+	–	+	+
Case C	1.46	+	+	+	+	–	+	+
Case D	0.53	+	+	+	+	–	–	–
Shimojima et al., 2010	1.28	+	+	+	+	–	–	–
Tenney et al., 2011
Case 1	1.90	+	+	+	+	–	ND	ND
Case 2	ND	+	+	+	+	–	ND	ND
Enomoto et al., 2010	2.30	+	–	+	+	–	+	+
DECIPHER patient 1350	2.14	+	ND	+	+	+	+	+
Total	–	20/20	13/16	19/20	16/20	4/20	13/18	13/18

DD, developmental delay; ID, intellectual disability; CP, cleft palate; ND, no data available.

^aIdentified on MRI.