Table 1.

Clinical phenotypes of study subjects

Family	Subject	Age (y)	Gender	Hearing Loss	EVA	Goiter	Thyroid stimulating hormone	Perchlorate discharge	SLC26A4 allele 1	SLC26A4 allele 2
151	1387	3	F	Bilateral	Bilateral	ND	Normal	ND	G209V	Y530S
151	1437	72	M	Bilateral	ND	ND	ND	ND	G209V	L236P
317	1904	6	F	Bilateral	Bilateral	ND	High	ND	V186F	IVS20-2A>G
317	2249	40	M	Bilateral	Bilateral	Yes	Normal	ND	IVS8+1G>A	E384G
317	1906	36	F	Bilateral	ND	ND	Low	ND	V186F	IVS8+1G>A
317	1908	61	F	Bilateral	ND	ND	ND	ND	IVS8+1G>A	T416P
347	1991	6	F	Left	Bilateral	No	Normal	Normal	wt	wt
347	1992	3	M	Right	Bilateral	No	Normal	ND	wt	wt
347	2044	17	M	Bilateral	Bilateral	No	Normal	Normal	wt	wt
372	2059	29	F	Bilateral	Bilateral	No	Normal	ND	wt	wt
372	2060	1-5/12	F	Bilateral	Bilateral*	No	Normal	ND	wt	wt
372	2058	30	M	Left	Left**	No	Normal	ND	wt	wt
372	2061	29	M	Bilateral	Bilateral	ND	ND	ND	wt	wt
388	2106	41	F	Bilateral	Bilateral	No	Normal	Normal	N324Y	wt
388	2107	8	M	Bilateral	Bilateral	No	Normal	Normal	N324Y	wt
388	2108	8	M	Bilateral	Bilateral	No	Normal	Normal	N324Y	wt
414	2186	7	M	Left	Bilateral	No	Normal	ND	G209V	F335L
414	2173	46	F	Bilateral	Bilateral	No	High***	ND	wt	wt
414	2188	1-1/12	M	Suspected****	ND	ND	ND	ND	G209V	F335L
442	2238	38	F	Bilateral	Bilateral	No	Normal	ND	wt	wt
442	2240	3	M	Bilateral	Bilateral	No	Normal	ND	wt	wt
443	2246	9	M	Bilateral	Bilateral	No	Normal	ND	wt	wt
443	2247	4	M	Bilateral	ND	No	Normal	ND	wt	wt
443	2248	1-0/12	M	Bilateral	Bilateral	No	Normal	ND	wt	wt

ND, not done.

^*Left endolymphatic duct diameter = 1.5 mm; right endolymphatic duct diameter > 1.5 mm.

^**Endolymphatic duct diameter = 1.3 mm.

^***Repeat measurement was normal.

^****Passed newborn hearing screen; history of delayed speech and language development; serial audiologic assessments unable to detect hearing loss.