Table 1. Genotype-phenotype correlation analysis of Korean CdLS patients harboring SMC1A or NIPBL mutations.

Category*	This study				Park et al. (2010) [8]	Park et al. (2010) [9]
	III:1	III:2	II:4	I:2
Sex	M	F	F	F	M	M	M
Gene involved	SMC1A	SMC1A	SMC1A	SMC1A	NIPBL	NIPBL	NIPBL
Nucleotide change	c.3178G > A	c.3178G > A	c.3178G > A	c.3178G > A	c.7178C > G	c.6108+2T > C	c.4028A > C
Protein effect	p.Glu1060Lys	p.Glu1060Lys	p.Glu1060Lys	p.Glu1060Lys	p.Ser2393*	NA	p.His1343Pro
Gestational age (week)	35	term	ND	ND	32	36 + 3	term
Birth weight (gram)	2,200	3,200	ND	ND	1,840	2,050	2,070
Facial anomaly
Synophrys	+	-	-	-	+	+	+
Secondary criteria†	+	-	-	-	+	+	+
Short stature	+	ND	+	+	ND	ND	+
Developmental delay	+	+	+	+	ND	ND	+
Musculoskeletal anomaly
Limb reduction defect	-	-	-	-	+	+	+
Small hands and/or feet	+	-	-	-	+	+	+
5th finger clinodactyly	+	-	-	-	ND	ND	+
Neurosensory/Skin
Ptosis	-	-	-	-		ND	+
Hearing loss	-	-	-	-	ND	+	-
Hirsutism	+	-	-	-	ND	+	+
Other major symptoms	-	-	-	-	Cleft palate, micrognathia	Cleft palate, cryptorchidism, micropenis with hypospadias	ND

The reference sequences used are NM_006306.3 (SMC1A) and NM_133433.3 (NIPBL).

^*Diagnostic criteria for CdLS reported in the literature [4]; ^†Long eyelashes, short nose with anteverted nares, long philtrum, broad or depressed nasal bridge, small or square chin, thin lips, high palate, and widely spaced or absent teeth.

Abbreviations: M, male; F, female; NA, not applicable; ND, no data.