Table 2. Clinical features and genetic findings in patients with NTDs^a.

	Patient ID
	SY657	A1444	A1431	A2147	A2171	SY2621	SY656	A2097	A1345
Mutations	p.Asn124Ser	p.Lys231Gln	p.Gln341Argfs*10	p.Val379Phe	p.Glu596Gln	p.Arg618Gln	p.Ala685Val	p.Ser687Phe	p.Ser687Phe
Gender	M	M	M	M	F	Unknown	F	F	F
Gestational age (wk)	36	38	17	40	20	Unknown	5Yb	16	20
Meningoencephalocele	+		+				+
Hydrocephalus		+		+	+				+
Spina bifida		+c		+d	+e	+c		+f	+d
Anencephaly			+					+
Equinovarus		+		+	+
Absence of skull		+
Pulmonary lobe malformation		+
Horseshoe kidney		+
Pneumorrhagia				+
Meconium aspiration syndrome				+
Accessory spleen				+
Visceral congestion				+	+			+
Atelectasis					+
Pulmonary agenesis								+
Postmortem autolysis								+

^aThis table summarizes the clinical findings in the study participants.

^bThe patient is 5 yr old.

^cOpen lumbar sacral spina bifida.

^dNonopen lumbar sacral spina bifida.

^eOpen thorac lumbar sacral spina bifida.

^fOpen cervical occipital thorac spina bifida.