PubMed Central, Table 1: J Med Genet. 2011 November; 48(11): 752–60. Published online 2011 September 22. doi: 10.1136/jmedgenet-2011-100339.

Table 1. Clinical data for the entire series, probands with alterations to the four main HPE-associated genes (SHH, ZIC2, SIX3, TGIF) and with abnormal array-CGH data

Percentages are expressed according to the data recorded (500 probands for HPE type and face defect category) and correspond to the ratio of each feature reported in the probands of the group concerned, with the exception of detailed extracraniofacial defects, which are expressed as a proportion of the total of extracraniofacial defects in each group.

	Probands	alobar	HPE type		MIH	microform	Face defect category				Associated brain malformations	Neural tube defect	Extracraniofacial defects
	Probands	alobar	semilobar	lobar	MIH	microform	Cat I	Cat II	Cat III	Cat IV	Associated brain malformations	Neural tube defect	% of probands	Heart	Visceral	Genital	Renal/urinary	Skeletal	Extremities
Total cohort	645	25% + 1% atelencephaly	28%	19%	2%	25%	27%	19%	14%	40%	13%	4%	27%	19%	23%	11%	11%	8%	27%

SHH	67 (10.4%)	28%^*	34%^*	4%^*	0%^*	34%^*	38%^*	22%^*	26%^*	14%^*	9%	5%	24%	8%	24%	8%	28%^*	16%	16%
ZIC2	53 (8.2%)	30%^*	45%^*	15%^*	8%^*	2%^*	8%^*	8%^*	3%^*	81%^*	21% (15% neuronal migration)	9%	40%	14%	20%	17%	14%^*	9%	26%
SIX3	33 (5.1%)	52%^* + 7% atelencephaly	15%^*	11%^*	0%^*	15%^*	45%^*	24%^*	10%^*	21%^*	7%	7%	24%	0%	22%	11%	0%^*	22%	45%
TGIF	11 (1,7%)	43%^*	14%^*	29%^*	0%^*	14%^*	55%^*	27%^*	0%^*	18%^*	9%	9%	27%	25%	50%	12%	0%^*	0%	13%

CGH	56^# (22%)	19%	37%	17%	0%	27%	8%	38%	8%	46%	11%	4%	26%	19%	22%	17%	11%	11%	20%

^# Array-CGH was performed on 260 probands. In addition to the HPE types mentioned in the table, septo-optic dysplasia and atelencephaly were reported in 1.4% and in 0.6%, respectively, of the cases in this series. Statistical analyses were carried out by comparing the SHH, ZIC2, SIX3, TGIF subgroups and probands without modifications to any of the four genes.

^* Significant differences were found for of the distribution of HPE type (p=3.8 × 10¹⁰), face defect category (p=9 × 10¹⁰) and renal/urinary defects (p=0.03) in Fisher’s exact tests.