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Table 3 Clinical characteristics of cases without causative mutations

From: Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients

Case ID Phenotype Suspected inheritance pattern Time of deafness onset
OTO.017 Bilateral non-syndromic sensorineural deafness AR Congenital
OTO.021 Bilateral sensorineural deafness. Nystagmus, strabismus, delay in psychomotor development and autism spectrum disorder AR Congenital
OTO.024 Bilateral non-syndromic sensorineural deafness AR Childhood
OTO.025 Bilateral non-syndromic sensorineural deafness AR Childhood
OTO.026 Unilateral non-syndromic sensorineural deafness AR Childhood
OTO.027 Bilateral non-syndromic sensorineural deafness AR Congenital
OTO.028 Bilateral non-syndromic sensorineural deafness AR Childhood
OTO.029 Unilateral non-syndromic sensorineural deafness AR Congenital
OTO.030 Unilateral sensorineural deafness. Connective tissue problems, digestive problems, urinary reflux and knee hypermobility AR Childhood
OTO.032 Unilateral non-syndromic sensorineural deafness AR Congenital
OTO.034 Bilateral non-syndromic sensorineural deafness AR Childhood
OTO.035 Bilateral non-syndromic sensorineural deafness AR Childhood
OTO.038 Bilateral non-syndromic sensorineural deafness AR Unknown
OTO.040 Bilateral non-syndromic sensorineural deafness AR Childhood
OTO.042 Bilateral non-syndromic sensorineural deafness AR Congenital
OTO.044 Bilateral non-syndromic sensorineural deafness AR Congenital
OTO.045 Bilateral non-syndromic sensorineural deafness AR Congenital
OTO.046 Bilateral non-syndromic sensorineural deafness AR Childhood
OTO.049 Bilateral non-syndromic sensorineural deafness AR Adulthood
OTO.052 Bilateral sensorineural deafness. Lobe of the auricular pavilion with grooves. Polysyndactyly in hands and feet. Hypospadias AR Congenital
OTO.053 Bilateral non-syndromic sensorineural deafness AR Childhood
OTO.036 Bilateral non-syndromic sensorineural deafness AR/AD Childhood
OTO.039 Bilateral non-syndromic sensorineural deafness AR/AD Adulthood
OTO.020 Bilateral non-syndromic sensorineural deafness AD Childhood
OTO.022 Bilateral non-syndromic sensorineural deafness AD Congenital
OTO.031 Bilateral non-syndromic sensorineural deafness AD Childhood
OTO.037 Bilateral non-syndromic sensorineural deafness AD Adulthood
OTO.047 Bilateral non-syndromic sensorineural deafness AD Childhood
OTO.048 Bilateral non-syndromic sensorineural deafness AD Childhood