Table 3. Details of phenotype and genotype of 11 patients in 10 families with homozygous CDH23 mutation.

Sample No	relationship	Amino acid Change	Hereditary form	Threshold* (Rt)(dB)	Threshold* (Lt)(dB)	severity	Residual hearing in the lower frequencies** (dB)	Hearing in the higher frequencies*** (dB)	Age	Age of awareness	Progressiveness	Hearing aid/cochlear implant	Vertigo	Tinnitus
#2113		p.[P240L];[P240L]	sporadic	91.3	90	severe	44.2	104.2	12	6	+	HA	−	−
#2235		p.[P240L];[P240L]	AR	97.5	96.3	profound	85.0	104.2	22	0	−	HA	−	−
#2308		p.[P240L];[P240L]	AR	88.8	95	severe	67.5	110.0	11	0****	−	HA	−	−
#2309	sibling of #2308	p.[P240L];[P240L]	AR	92.5	86.3	severe	50.0	105.0	9	0****	−	HA	−	−
#2959		p.[P240L];[P240L]	sporadic	81.3	85	severe	75.8	96.7	8	0****	−	HA	−	−
#4266		p.[P240L];[P240L]	sporadic	96.3	96.3	severe	70.0	91.3	3	0****	+	CI	−	−
#4580		p.[P240L];[P240L]	sporadic	102.5	97.5	profound	88.3	106.7	1	0****	−	CI	−	N/A
#4874		p.[P240L];[P240L]	sporadic	102.5	102.5	profound	80.8	106.7	38	2	+	HA	−	−
#2806		p.[R2029W];[R2029W]	sporadic	92.5	80	severe	56.7	104.2	53	48	+	HA	−	+
#3255		p.[R2029W];[R2029W]	AR	96.3	85	severe	59.2	104.2	71	60	+	HA	−	+
#289		p.[V1417W];[V1417W]	sporadic	31.3	26.3	mild	10.0	85.0	34	14	+	HA	−	−

^*average of 500, 1000, 2000 and 4000 Hz.

^**average of 125, 250, and 500 Hz.

^***average of 2000, 4000, and 8000 Hz.

^****found by newborn hearing screening.