Disease #05458 (DFN (deafness, nonsyndromic (DFN)))

Official abbreviation DFN
Name deafness, nonsyndromic (DFN)
OMIM ID -
Inheritance -
Individuals reported having this disease 46
Phenotype entries for this disease 43
Associated with 13 genes CDH23, CEACAM16, FAM65B, MYO15A, MYO6, MYO7A, OTOF, OTOG, PCDH15, PDZD7, TECTA, TMC1, USH1C
Associated tissues -
Disease features -
Remarks -


Individuals

46 entries on 1 page. Showing entries 1 - 46.
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00167139 - PubMed: Besnard, Garcia-Garcia 2014 Proband M - Spain - - 0 - - DFN - - PCDH15, USH2A 2 1 Anne-Françoise Roux
00167140 - PubMed: Besnard, Garcia-Garcia 2014 Proband F - - - - 0 - - DFN - - GPR98, PCDH15 4 1 Anne-Françoise Roux
00167141 - PubMed: Besnard, Garcia-Garcia 2014 Proband M - - - - 0 - - DFN - - TMC1 2 1 Anne-Françoise Roux
00167142 - PubMed: Besnard, Garcia-Garcia 2014 - F - - - - 0 - - DFN - - USH1C, USH2A 3 1 Anne-Françoise Roux
00167143 - PubMed: Besnard, Garcia-Garcia 2014 Proband M - - - - 0 - - DFN - - CDH23 1 1 Anne-Françoise Roux
00167144 - PubMed: Besnard, Garcia-Garcia 2014 Proband F - France - - 0 - - DFN - - CDH23 1 1 Anne-Françoise Roux
00167157 - PubMed: Yang 2013 Proband - no ophtalmologic details - - China - - 0 - - DFN - - GPR98 2 1 Anne-Françoise Roux
00167158 - PubMed: Yang 2013 Proband - no ophtalmologic details - - China - - 0 - - DFN - - GPR98 2 1 Anne-Françoise Roux
00167159 - PubMed: Yang 2013 Proband - no ophtalmological details - - China - - 0 - - DFN - - GPR98 2 1 Anne-Françoise Roux
00167281 - PubMed: Mutai 2013 Proband F - Japan - - 0 - - DFN - - CDH23, PCDH15 2 1 Anne-Françoise Roux
00167282 - PubMed: Mutai 2013 Relative F - Japan - - 0 - - DFN - - CDH23, PCDH15 2 1 Anne-Françoise Roux
00167283 - PubMed: Mutai 2013 Relative F - Japan - - 0 - - DFN - - CDH23, PCDH15 2 1 Anne-Françoise Roux
00167610 - PubMed: A.Pera 2008 Proband F - Spain - - 0 - - DFN Sever SNHL, No inner ear malformation, No thyroid abnormalities, Age 2 years old - SLC26A4 1 1 Anne-Françoise Roux
00167611 - PubMed: A.Pera 2008 Proband F - Spain - - 0 - - DFN Moderate SNHL, No inner ear malformation, No thyroid abnormalities, Age 5 years old - SLC26A4 1 1 Anne-Françoise Roux
00167612 - PubMed: A.Pera 2008 Proband F - Spain - - 0 - - DFN Profound SNHL, No inner ear malformations, No thyroid abnormalities, Age 5 years old - SLC26A4 3 1 Anne-Françoise Roux
00167613 - PubMed: A.Pera 2008 Proband F - Spain - - 0 - - DFN Moderate SNHL, No inner ear malformations, No thyroid anbormalities, Age 7 years old - SLC26A4 1 1 Anne-Françoise Roux
00167614 - PubMed: A.Pera 2008 Proband M - Spain - - 0 - - DFN Profound SNHL, No inner ear malformations, No thyroid abnormalities, Age 14 years old - SLC26A4 1 1 Anne-Françoise Roux
00167626 - PubMed: A.Pera 2008 Proband M - Spain - - 0 - - DFN Profound SNHL, No inner ear malformations, No thyroid abnormalities, Age 1 year old - SLC26A4 1 1 Anne-Françoise Roux
00167707 - PubMed: Mizutari 2015 proband M - Japan Asian-Japanese - 0 - - DFN - - CDH23 1 1 Hideki Mutai
00167708 - PubMed: Mizutari 2015 Proband M - Japan Asian-Japanese - 0 - - DFN - - CDH23 2 1 Hideki Mutai
00167709 - PubMed: Mizutari 2015 Proband F - Japan Asian-Japanese - 0 - - DFN - - CDH23 1 1 Hideki Mutai
00167710 - PubMed: Mizutari 2015 Proband M - Japan Asian-Japanese - 0 - - DFN - - CDH23 1 1 Hideki Mutai
00167711 - PubMed: Mizutari 2015 Proband F - Japan Asian-Japanese - 0 - - DFN - - CDH23 2 1 Hideki Mutai
00167712 - PubMed: Mizutari 2015 Proband M - Japan Asian-Japanese - 0 - - DFN - - CDH23 2 1 Hideki Mutai
00167713 - PubMed: Mizutari 2015 Proband M - Japan Asia - 0 - - DFN - - CDH23 1 1 Hideki Mutai
00167714 - PubMed: Mizutari 2015 Proband M - Japan Asian-Japanese - 0 - - DFN - - CDH23 1 1 Hideki Mutai
00167715 - PubMed: Mizutari 2015 Proband M - Japan Asian-Japanese - 0 - - DFN - - CDH23 1 1 Hideki Mutai
00167716 - PubMed: Mizutari 2015 Proband F - Japan Asian-Japanese - 0 - - DFN - - CDH23 1 1 Hideki Mutai
00167762 - de Moraes 2016 The patient also carries a monoallelic GJB2:c.35delG - - Brazil - - 0 - - DFN no EVA - SLC26A4 1 1 Silvia Dossena
00168024 S1338 PubMed: Baux 2017 Proband M - France - - 0 - - DFN - - GPR98 1 1 Anne-Françoise Roux
00168025 S1601 PubMed: Baux 2017 Proband F - France - - 0 - - DFN - - GPR98 2 1 Anne-Françoise Roux
00168730 ? PubMed: Besnard, Garcia-Garcia 2014 Proband F - - - - 0 - - DFN - - MYO7A 3 1 Anne-Françoise Roux
00168731 ? PubMed: Besnard, Garcia-Garcia 2014 Proband M - - - - 0 - - DFN - - MYO7A 1 1 Anne-Françoise Roux
00170274 - PubMed: Yang 2013 Proband - age < 6 yrs - - China - - 0 - - DFN - - USH2A 2 1 Anne-Françoise Roux
00170275 - PubMed: Yang 2013 Proband - age < 6 yrs - - China - - 0 - - DFN - - USH2A 2 1 Anne-Françoise Roux
00170276 - PubMed: Yang 2013 Proband - age < 6 yrs - - China - - 0 - - DFN - - USH2A 2 1 Anne-Françoise Roux
00170335 - PubMed: Mutai 2013 Proband F - Japan - - 0 - - DFN - - USH2A 2 1 Anne-Françoise Roux
00170507 - PubMed: Wei 2014 Proband - also carries GJB2:c.235del (het) F - China - - 0 - - DFN - - USH2A 1 1 Anne-Françoise Roux
00170803 S1682 PubMed: Baux 2017 Proband - Age 8 at the time of the study - possible USH2 M - France - - 0 - - DFN - - MYO15A, USH2A 3 1 Anne-Françoise Roux
00170804 S1679 PubMed: Baux 2017 Proband - Age 14 at the time of the study - possible USH2 F - France - - 0 - - DFN - - GJB2, USH2A 3 1 Anne-Françoise Roux
00170805 S1752 PubMed: Baux 2017 Proband - Age 3 at the time of the study - possible USH2 F - France - - 0 - - DFN - - USH2A 2 1 Anne-Françoise Roux
00170806 S1768 PubMed: Baux 2017 Proband - Age 13 at the time of the study - possible USH2 F - France - - 0 - - DFN - - USH2A 1 1 Anne-Françoise Roux
00327133 - - - - - - - - - - - DFN - - - 0 1 So Young Kim
00327142 - - - - - - - - - - - DFN - - - 0 1 So Young Kim
00384963 - - - - - - - - 0 - - DFN - ATP6V1B2 ATP6V1B2 1 1 Tao Cai
00384965 - - - - - - - - - - - DFN - KIF11 KIF11 1 1 Tao Cai
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