Table 3. Subjects with positive genetic testing.

Subject no.	Gene	Inheritance	Variant	Transcript	Interpretation
13	ZIC2	De novo	c.1095_1096del, p.Cys365*	NM_007129	Pathogenic
16	ZIC2	De novo	c.1148_1464del, p.Ser482Argfs*42	NM_007129	Pathogenic
20	ZIC2	De novo	c.793C>T, p.Gln265*	NM_007129	Pathogenic
15	ZIC2	Unknown	c.1097_1098del, p.Glu366Valfs*2	NM_007129	Pathogenic
14	DISP1	Maternally inherited	c.743C>T:p.Ala248Val	NM_032890	Variant of uncertain significance
11	CNV	Unknown	arr[hg19] 8p21.2-p.21.1(27141452-28479611)x1, 8p12-p11.21(35754100-39710324)x1, 8p11.22-p11.21(39720982-40167696)x3		Pathogenic but association with holoprosencephaly is unclear

CNV, copy-number variant.