Table 3 Clinical characteristics of cases without causative mutations
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 |