All individuals with variants in gene SLC26A4

490 entries on 5 pages. Showing entries 1 - 100.
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Reference     

Remarks     

Gender     

Consanguinity     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

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Owner     
00059043 - Karen Avraham laboratory, Tel Aviv university, Israel, unpublished - - no Israel Arab - - - - DFNB;ARNSHL Congenital, profound, non-syndromic HL 1 2 Zippi Brownstein
00059044 - Karen Avraham laboratory, Tel Aviv university, Israel, unpublished - - yes Israel Beduim - - - - DFNB;ARNSHL Congenital, moderate to severe hearing loss, Pendred 1 3 Zippi Brownstein
00059167 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - DFNB;ARNSHL - 2 1 Manou Sommen
00060266 - Karen Avraham Laboratory DFNB4 - no Israel Jewish-Ashkenazi;Egypt;Turkey - - - - DFNB;ARNSHL Congenital, profound NSHL 2 1 Zippi Brownstein
00060267 - Karen Avraham Laboratory DFNB4 - yes Israel Jewish-Ashkenazi - - - - DFNB;ARNSHL Congenital, profound NSHL 1 2 Zippi Brownstein
00060268 - Karen Avraham Laboratory DFNB4 - yes Israel Jewish-Ashkenazi - - - - DFNB;ARNSHL Congenital, profound NSHL 1 3 Zippi Brownstein
00080136 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 2 1 Mieke Wesdorp
00080146 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 1 1 Mieke Wesdorp
00080733 - PubMed: Yang 2007, Journal: Yang 2007 2-generation family, 1 affcted, unaffected heterozygous carrier parents and brother F - United States - - - - - DFNB4 - 1 1 Johan den Dunnen
00080743 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - - - - DFNB4 enlargement vestibular aqueduct with/without cochlear dysplasia 1 1 Johan den Dunnen
00080744 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - - - - DFNB4 enlargement vestibular aqueduct with/without cochlear dysplasia 1 1 Johan den Dunnen
00080745 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - - - - DFNB4 enlargement vestibular aqueduct with/without cochlear dysplasia 1 1 Johan den Dunnen
00080746 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - - - - DFNB4 enlargement vestibular aqueduct with/without cochlear dysplasia 1 1 Johan den Dunnen
00080747 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - - - - DFNB4 enlargement vestibular aqueduct with/without cochlear dysplasia 1 1 Johan den Dunnen
00080748 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - - - - DFNB4 enlargement vestibular aqueduct with/without cochlear dysplasia 1 1 Johan den Dunnen
00080749 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - - - - DFNB4 enlargement vestibular aqueduct with/without cochlear dysplasia 1 1 Johan den Dunnen
00080750 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - - - - DFNB4 enlargement vestibular aqueduct with/without cochlear dysplasia 1 1 Johan den Dunnen
00080751 - PubMed: Yang 2007, Journal: Yang 2007 - - - United States - - - - - DFNB4 enlargement vestibular aqueduct with/without cochlear dysplasia 1 1 Johan den Dunnen
00087237 - - - M no - Chinese - - - - DFNB4 HP:0011387,HP:0000399,HP:0011476 2 1 Yalan Liu
00163814 - - - M yes - - - - - - DFNB4 - 1 1 Nada Danial-Farran
00167285 - PubMed: Yazdanpanahil 2013 Relative M - Iran - - - - - PDS;TDH2B Profound HL,EVA,Mondini dysplasia,euthyroid multinodular goiter 2 1 Anne-Françoise Roux
00167286 - PubMed: Yazdanpanahil 2013 Relative M - Iran - - - - - PDS;TDH2B No Mondini dysplasia 2 1 Anne-Françoise Roux
00167287 - PubMed: Yazdanpanahil 2013 Relative M - Iran - - - - - PDS;TDH2B No Mondini dysplasia 2 1 Anne-Françoise Roux
00167288 - PubMed: Yazdanpanahil 2013 Relative F - Iran - - - - - PDS;TDH2B No mondini dysplasia 2 1 Anne-Françoise Roux
00167289 - PubMed: Yazdanpanahil 2013 Relative M - Iran - - - - - PDS;TDH2B No detailed informations concerning the phenotype in this case. 2 1 Anne-Françoise Roux
00167290 - PubMed: Yazdanpanahil 2013 Proband M - Iran - - - - - PDS;TDH2B Profound HL,EVA,Mondini dysplasia, euthyroid multinodular goiter 2 1 Anne-Françoise Roux
00167291 - PubMed: Yazdanpanahil 2013 Relative F - Iran - - - - - PDS;TDH2B Sever HL,euthyroid multinodular goiter,vestibular aqueduct examination not done. 2 1 Anne-Françoise Roux
00167292 - PubMed: Yazdanpanahil 2013 Relative F - Iran - - - - - PDS;TDH2B Moderate HL,EVA,No goiter(age 8 years old) 2 1 Anne-Françoise Roux
00167294 - PubMed: Ben Said 2012 Proband - presence of a goiter M - Tunisia - - - - - PDS;TDH2B - 2 1 Anne-Françoise Roux
00167295 - PubMed: Ben Said 2012 Relative - Presence of a goiter F - Tunisia - - - - - PDS;TDH2B - 2 1 Anne-Françoise Roux
00167307 - PubMed: Ben Said 2012 Relative - no goiter, EVA and Profound HL at age 19 M - Tunisia - - - - - PDS;TDH2B - 2 1 Anne-Françoise Roux
00167308 - PubMed: Ben Said 2012 Relative - no goiter, EVA and profound HL at age 8. M - Tunisia - - - - - PDS;TDH2B - 2 1 Anne-Françoise Roux
00167309 - PubMed: Ben Said 2012 Relative - no goiter,profound HL, CT SCAN not done. F - Tunisia - - - - - PDS;TDH2B - 2 1 Anne-Françoise Roux
00167310 - PubMed: Yazdanpanahil 2013 Relative M - Iran - - - - - PDS;TDH2B Vestibular aqueduct examination not performed. 2 1 Anne-Françoise Roux
00167311 - PubMed: Huang CJ 2013 Proband F - China - - - - - PDS;TDH2B - 2 1 Anne-Françoise Roux
00167312 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,isolated Mondini dysplasia,No goiter 1 1 Anne-Françoise Roux
00167313 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,Inner ear malformation (not specified in this case) other than EVA and MD,No goiter. 1 1 Anne-Françoise Roux
00167314 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,Inner ear malformation(not specified in this case) other than EVA and MD,No goiter. 1 1 Anne-Françoise Roux
00167315 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167316 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167317 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167318 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167319 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167320 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167321 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167322 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167323 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167324 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167325 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167326 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167327 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167328 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167329 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167330 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167331 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167332 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167333 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167334 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167335 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167336 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167337 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167338 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167339 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167340 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167341 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167342 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167343 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167344 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167345 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167346 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167347 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167348 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167349 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167350 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 1 1 Anne-Françoise Roux
00167351 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167352 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167353 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 1 1 Anne-Françoise Roux
00167354 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167355 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167356 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167357 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167358 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167359 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167360 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167361 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167362 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA,No goiter 2 1 Anne-Françoise Roux
00167363 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA with Mondini dysplasia,No goiter 2 1 Anne-Françoise Roux
00167364 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA with Mondini dysplasia,No goiter 2 1 Anne-Françoise Roux
00167365 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA with Mondini dysplasia,No goiter 2 1 Anne-Françoise Roux
00167366 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA with Mondini dysplasia,No goiter 2 1 Anne-Françoise Roux
00167367 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA with Mondini dysplasia,No goiter 2 1 Anne-Françoise Roux
00167368 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA with Mondini dysplasia,No goiter 2 1 Anne-Françoise Roux
00167369 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA with Mondini dysplasia,No goiter 2 1 Anne-Françoise Roux
00167370 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA with Mondini dysplasia,No goiter 2 1 Anne-Françoise Roux
00167371 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA with Mondini dysplasia,No goiter 2 1 Anne-Françoise Roux
00167372 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA with Mondini dysplasia,No goiter 2 1 Anne-Françoise Roux
00167373 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA with Mondini dysplasia,No goiter 2 1 Anne-Françoise Roux
00167374 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA with Mondini dysplasia,No goiter 2 1 Anne-Françoise Roux
00167375 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA with Mondini dysplasia,No goiter 2 1 Anne-Françoise Roux
00167376 - PubMed: Huang S 2011 Proband - - China - - - - - DFNB SNHL,EVA with Mondini dysplasia,No goiter 2 1 Anne-Françoise Roux
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