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.