Table 1.

Inferred haplotypes present in a sample of 56 Portuguese HH patients

#	ZSCAN12	PGBD1	ZNF193	ZNF 165	D6S2222	D6S105	ZNF184	N	Frequency
1	A	A	A	T	247	150	G	82	73.2%
2	G	A	A	T	247	150	G	8	7.1%
3	A	A	A	T	249	150	G	5	4.5%
4	A	A	A	T	247	160	G	1	0.9%
5	A	A	A	T	247	148	G	1	0.9%
6	A	A	A	T	249	158	G	1	0.9%
7	A	A	A	T	n.a.	170	G	1	0.9%
8	G	A	A	T	247	148	G	1	0.9%
9	A	A	A	T	247	150	T	1	0.9%
10	A	A	A	T	245	150	T	2	1.8%
11	G	A	A	T	247	150	T	2	1.8%
12	G	G	G	G	249	150	G	4	3.6%
13	G	G	G	G	249	160	G	2	1.8%
14	G	A	G	G	249	150	T	1	0.9%

Alleles in bold represent conserved haplotype regions.

A: adenine; G: guanine; T: thymine. For microsatellite markers the size of the amplified PCR product is given (in base pairs).

n.a.: not available