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Table 3 Clinical manifestation of JSNY-045 family members

From: Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss

Members Gender Age at enrollment (years) Clinical testing
PTAa(dBHL) Vestibular function Night blindness Visual fields Photophobia ERGb
II3 Male 28 78.75 Normal No Normal No Normal
II2 Female 30 88.75 Normal No Normal No Normal
I1 Male 55 18.75 Normal No Normal No Normal
I2 Female 53 18.75 Normal No Normal No Normal
  1. aPTA: pure tone average of 0.5, 1, 2, and 4 kHz for the better ear; bERG: electroretinogram.