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Table 1 Characterization of HL in each affected individual in family E30

From: The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family

Hearing loss

V-2

V-3

V-4

V-5

Approximate age of onset

Before 1 year old

Before 1 year old

Before 1 year old

Congenital

Age at auditory examination

1.6 years

Ì´ 2 years

7 months

10 days

Current age

15 years

4.4 years

8 years

2 years

Type

Mixed

Sensorineural

Sensorineural

Sensorineural

Laterality

Bilateral/symmetric

Bilateral/symmetric

Bilateral/symmetric

Bilateral/symmetric

Suspected intrafamilial variability

No

No

No

Yes

Degree

Profound

Profound

Profound

Severe

Non-syndromic

Yes

Yes

Yes

Yes