Disease #05458

Official abbreviation DFN
Name deafness, nonsyndromic (DFN)
OMIM ID -
Inheritance -
Individuals reported having this disease 42
Phenotype entries for this disease 42
Associated with 11 genes CDH23, CEACAM16, MYO15A, MYO6, MYO7A, OTOF, OTOG, PCDH15, TECTA, TMC1, USH1C
Associated tissues -
Disease features -
Remarks -


Individuals

42 entries on 1 page. Showing entries 1 - 42.
Legend  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
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 - PubMed: Baux, Vaché 2017 Proband M - France - - 0 - - DFN - - GPR98 2 1 Anne-Françoise Roux
00168025 - PubMed: Baux, Vaché 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 - PubMed: Baux, Vaché 2017 Proband - Age 8 at the time of the study - possible USH2 M - France - - 0 - - DFN - - USH2A 2 1 Anne-Françoise Roux
00170804 - PubMed: Baux, Vaché 2017 Proband - Age 14 at the time of the study - possible USH2 - Also carries GJB2:NM_004004.5:c.101T>C - p.(Met34Thr) (het) F - France - - 0 - - DFN - - USH2A 2 1 Anne-Françoise Roux
00170805 - PubMed: Baux, Vaché 2017 Proband - Age 3 at the time of the study - possible USH2 F - France - - 0 - - DFN - - USH2A 2 1 Anne-Françoise Roux
00170806 - PubMed: Baux, Vaché 2017 Proband - Age 13 at the time of the study - possible USH2 F - France - - 0 - - DFN - - USH2A 2 1 Anne-Françoise Roux
Legend  

  Powered by LOVD v.3.0 Build 24
LOVD software ©2004-2020 Leiden University Medical Center 		There are currently no updates.