Condition: Progressive sensorineural hearing impairment


rs1553403917 in ALMS1 gene and Progressive sensorineural hearing impairment PMID 29079548 2018 A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome.

rs1555743003 in ASXL3 gene and Progressive sensorineural hearing impairment PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.

rs779027563 in CNTNAP1 gene and Progressive sensorineural hearing impairment PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs748718975 in DPT gene and Progressive sensorineural hearing impairment PMID 27876815 2017 Variable expressivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere's disease.

rs1057519374 in SEMA3D gene and Progressive sensorineural hearing impairment PMID 27876815 2017 Variable expressivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere's disease.