Disease #05400 (DFNB (deafness, autosomal recessive (DFNB)))

Official abbreviation DFNB
Name deafness, autosomal recessive (DFNB)
OMIM ID -
Inheritance -
Individuals reported having this disease 870
Phenotype entries for this disease 869
Associated with 12 genes CDH23, CIB2, FAM65B, MYO15A, MYO7A, OTOF, OTOG, PCDH15, S1PR2, STRC, TMC1, USH1C
Associated tissues -
Disease features autosomal recessive
Remarks -


Individuals

870 entries on 9 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9     Next › Last »

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     
00154471 29293958-FamFT1 PubMed: Imtiaz 2018 4-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Tunisia - - 0 - - DFNB see paper; ... CDC14A CDC14A 1 5 Johan den Dunnen
00154472 29293958-FamHLRB11 PubMed: Imtiaz 2018 4-generation family, 5 affecteds (3F, 2M), unaffected heterozygous carrier parents F;M yes Pakistan - - 0 - - DFNB see paper; ... CDC14A CDC14A 1 5 Johan den Dunnen
00154473 29293958-FamHLAI24 PubMed: Imtiaz 2018 4-generation family, 4 affecteds (2F, 2M), unaffected heterozygous carrier parents F;M yes Pakistan - - 0 - - DFNB see paper; ... CDC14A CDC14A 1 4 Johan den Dunnen
00154474 29293958-FamMORL1 PubMed: Imtiaz 2018 5-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents F;M yes Iran - - 0 - - DFNB see paper; ... CDC14A CDC14A 1 3 Johan den Dunnen
00154475 29293958-FamMORL2 PubMed: Imtiaz 2018 6-generation family, 3 affected (2F,M), unaffected heterozygous carrier parents F;M yes Iran - - 0 - - DFNB see paper; ... CDC14A CDC14A 1 3 Johan den Dunnen
00154476 29293958-FamHPK1 PubMed: Imtiaz 2018 4-generation family, 2 affecteds (2M), unaffected heterozygous carrier parents M yes Pakistan - - 0 - - DFNB see paper; ... CDC14A CDC14A 1 2 Johan den Dunnen
00154477 29293958-FamPKDF539 PubMed: Imtiaz 2018 6-generation family, 6 affected (3F, 3M), unaffected heterozygous carrier parents F;M yes Pakistan - - 0 - - DFNB see paper; ... CDC14A CDC14A 1 6 Johan den Dunnen
00154478 29293958-FamPKSN10 PubMed: Imtiaz 2018 5-generation family, 5 affecteds (2F, 3M), unaffected heterozygous carrier parents F;M yes Pakistan - - 0 - - DFNB see paper; ... CDC14A CDC14A 1 5 Johan den Dunnen
00155302 E30PatV4 PubMed: Hofrichter 2018 4-generation family, 4 affected (3F, M) F yes Iran - - 0 - - DFNB see paper; ... S1PR2 S1PR2 1 4 Barbara Vona
00155311 26805784-FamDEM4154 PubMed: Santos-Cortez 2016, Journal: Santos-Cortez 2016 5-generation family, 7 affecteds (4F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - 0 - - DFNB congenital profound hearing impairment, limb malformations, no other abnormalities S1PR2 GCDH, MUC16, S1PR2, WDR62, ZNF571, ZNF91 6 7 Johan den Dunnen
00155312 26805784-FamPKDF1400 PubMed: Santos-Cortez 2016, Journal: Santos-Cortez 2016 4-generation family, 5 affected (4F, M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - 0 - - DFNB see paper; ... S1PR2 MUC16, S1PR2 2 5 Johan den Dunnen
00163052 - PubMed: Ahmed et al., 2003 proband F - Pakistan - - 0 - - DFNB Vestibular dysfunction MYO6 MYO6 1 1 Anne-Françoise Roux
00163053 - PubMed: Ahmed et al., 2003 relative M - Pakistan - - 0 - - DFNB - MYO6 MYO6 1 1 Anne-Françoise Roux
00163054 - PubMed: Ahmed et al., 2003 relative M - Pakistan - - 0 - - DFNB Mild facial dysmorphology MYO6 MYO6 1 1 Anne-Françoise Roux
00163055 - PubMed: Ahmed et al., 2003 relative M - Pakistan - - 0 - - DFNB Mild facial dysmorphology MYO6 MYO6 1 1 Anne-Françoise Roux
00163056 - PubMed: Ahmed et al., 2003 relative F - Pakistan - - 0 - - DFNB RP and vestibular abnormality MYO6 MYO6 1 1 Anne-Françoise Roux
00163057 - PubMed: Ahmed et al., 2003 relative F - Pakistan - - 0 - - DFNB - MYO6 MYO6 1 1 Anne-Françoise Roux
00163068 - PubMed: Ahmed et al., 2003 proband M - Pakistan - - 0 - - DFNB - MYO6 MYO6 1 1 Anne-Françoise Roux
00163069 - PubMed: Yang et al., 2013 proband - - China - - 0 - - DFNB - MYO6 MYO6 2 1 Anne-Françoise Roux
00163104 - PubMed: Brownstein et al., 2014 proband M - Palestine - - 0 - - DFNB - MYO6 MYO6 1 1 Anne-Françoise Roux
00163105 - PubMed: Brownstein et al., 2014 relative F - Palestine - - 0 - - DFNB - MYO6 MYO6 1 1 Anne-Françoise Roux
00163116 - PubMed: Ahmed et al., 2003 proband M - Pakistan - - 0 - - DFNB - MYO6 MYO6 1 1 Anne-Françoise Roux
00163117 - PubMed: Ahmed et al., 2003 relative F - Pakistan - - 0 - - DFNB - MYO6 MYO6 1 1 Anne-Françoise Roux
00163118 - PubMed: Ahmed et al., 2003 relative F - Pakistan - - 0 - - DFNB - MYO6 MYO6 1 1 Anne-Françoise Roux
00163119 - PubMed: Ahmed et al., 2003 relative F - Pakistan - - 0 - - DFNB - MYO6 MYO6 1 1 Anne-Françoise Roux
00163120 - PubMed: Ahmed et al., 2003 relative F - Pakistan - - 0 - - DFNB - MYO6 MYO6 1 1 Anne-Françoise Roux
00163190 - PubMed: Meyer et al., 2007 proband F - Iran - - 0 - - DFNB - TECTA TECTA 1 1 Anne-Françoise Roux
00163191 S1539 PubMed: Baux 2017 proband F - France - - 0 - - DFNB - TECTA TECTA 2 1 Anne-Françoise Roux
00163194 - PubMed: Naz et al., 2003 proband F - Iran - - 0 - - DFNB - TECTA TECTA 1 1 Anne-Françoise Roux
00163195 - PubMed: Hutchin et al., 2005 proband - - - - - 0 - - DFNB - TECTA TECTA 3 1 Anne-Françoise Roux
00163198 - PubMed: Yang et al., 2013 proband - - China - - 0 - - DFNB - TECTA TECTA 1 1 Anne-Françoise Roux
00163205 - PubMed: Mustapha et al., 1999 proband F - Lebanon - - 0 - - DFNB - TECTA TECTA 1 1 Anne-Françoise Roux
00163206 - PubMed: Meyer et al., 2007 proband M - Iran - - 0 - - DFNB - TECTA TECTA 1 1 Anne-Françoise Roux
00163224 - PubMed: Sagong et al., 2011 proband F - Korea - - 0 - - DFNB - TECTA TECTA 2 1 Anne-Françoise Roux
00163225 - PubMed: Diaz-Horta et al,.2012 - - - Iran - - 0 - - DFNB - TECTA TECTA 1 1 Anne-Françoise Roux
00163226 - PubMed: Meyer et al., 2007 proband M - Iran - - 0 - - DFNB - TECTA TECTA 1 1 Anne-Françoise Roux
00163270 - PubMed: Naz et al., 2003 proband F - Pakistan - - 0 - - DFNB - TECTA TECTA 1 1 Anne-Françoise Roux
00163272 - PubMed: Alasti et al., 2008 proband F - Iran - - 0 - - DFNB - TECTA TECTA 1 1 Anne-Françoise Roux
00163314 - PubMed: Ben-Salem et al., 2014 proband M - United Arab Emirates - - 0 - - DFNB - DFNB31 DFNB31 1 1 Anne-Françoise Roux
00163315 - PubMed: Yang et al., 2013 proband - - China - - 0 - - DFNB - DFNB31 DFNB31 2 1 Anne-Françoise Roux
00163320 - PubMed: Tlili et al., 2005 proband M - Tunisia - - 0 - - DFNB - DFNB31 DFNB31 5 1 David Baux
00163321 - PubMed: Tlili et al., 2005 relative F - Tunisia - - 0 - - DFNB - DFNB31 DFNB31 5 1 David Baux
00163322 - PubMed: Tlili et al., 2005 relative F - Tunisia - - 0 - - DFNB - DFNB31 DFNB31 5 1 David Baux
00163323 - PubMed: Tlili et al., 2005 relative F - Tunisia - - 0 - - DFNB - DFNB31 DFNB31 5 1 David Baux
00163360 - PubMed: Mburu et al., 2003 proband F - Jordan - - 0 - - DFNB - DFNB31 DFNB31 1 1 David Baux
00163361 - PubMed: Mburu et al., 2003 relative M - Jordan - - 0 - - DFNB - DFNB31 DFNB31 1 1 David Baux
00163362 - PubMed: Mburu et al., 2003 relative F - Jordan - - 0 - - DFNB - DFNB31 DFNB31 1 1 David Baux
00163363 - PubMed: Mburu et al., 2003 relative F - Jordan - - 0 - - DFNB - DFNB31 DFNB31 1 1 David Baux
00163364 - PubMed: Mburu et al., 2003 relative M - Jordan - - 0 - - DFNB - DFNB31 DFNB31 1 1 David Baux
00163365 - PubMed: Mburu et al., 2003 relative M - Jordan - - 0 - - DFNB - DFNB31 DFNB31 1 1 David Baux
00163378 - PubMed: Yasunaga et al,.2000 proband F - India - - 0 - - DFNB - OTOF OTOF 1 1 Anne-Françoise Roux
00163379 - PubMed: Yasunaga et al,.2000 proband M - India - - 0 - - DFNB - OTOF OTOF 1 1 Anne-Françoise Roux
00163380 - PubMed: Yasunaga et al,.2000 proband F - India - - 0 - - DFNB - OTOF OTOF 1 1 Anne-Françoise Roux
00163382 - PubMed: Choi et al,.2008 - - - Pakistan - - 0 - - DFNB - OTOF OTOF 4 1 Anne-Françoise Roux
00163385 - PubMed: Choi et al,.2008 - - - Pakistan - - 0 - - DFNB severe-profound OTOF OTOF 4 1 Anne-Françoise Roux
00163386 - PubMed: Choi et al,.2008 - - - Pakistan - - 0 - - DFNB severe-profound OTOF OTOF 2 1 Anne-Françoise Roux
00163387 - PubMed: Wang et al,.2011 no genotype in the publication - - China - - 0 - - DFNB - OTOF OTOF 1 1 Anne-Françoise Roux
00163389 - PubMed: Wang et al,.2010 proband - - China - - 0 - - DFNB - OTOF OTOF 1 1 Anne-Françoise Roux
00163390 - PubMed: Wang et al,.2011 no genotype in the publication - - China - - 0 - - DFNB - OTOF OTOF 1 1 Anne-Françoise Roux
00163391 - PubMed: Iwasa et al,.2013 - - - Japan - - 0 - - DFNB hearing loss level:profound OTOF OTOF 1 1 Anne-Françoise Roux
00163392 - PubMed: Choi et al,.2008 - - - Pakistan - - 0 - - DFNB severe-profound OTOF OTOF 2 1 Anne-Françoise Roux
00163395 - PubMed: Iwasa et al,.2013 - - - Japan - - 0 - - DFNB hearing loss level: severe OTOF OTOF 1 1 Anne-Françoise Roux
00163397 - PubMed: Choi et al,.2008 - - - Pakistan - - 0 - - DFNB severe-profound OTOF OTOF 1 1 Anne-Françoise Roux
00163407 - PubMed: Wang et al,.2010 proband - - China - - 0 - - DFNB - OTOF OTOF 1 1 Anne-Françoise Roux
00163413 - PubMed: Mahdieh et al,.2012 - - - Iran - - 0 - - DFNB profound OTOF OTOF 1 1 Anne-Françoise Roux
00163418 - PubMed: Iwasa et al,.2013 - - - Japan - - 0 - - DFNB hearing loss level: profound OTOF OTOF 2 1 Anne-Françoise Roux
00163419 - PubMed: Wang et al,.2011 no genotype in the publication - - China - - 0 - - DFNB - OTOF OTOF 1 1 Anne-Françoise Roux
00163420 - PubMed: Iwasa et al,.2013 - - - Japan - - 0 - - DFNB hearing loss level: profound OTOF OTOF 1 1 Anne-Françoise Roux
00163421 - PubMed: Iwasa et al,.2013 - - - Japan - - 0 - - DFNB hearing loss level: severe OTOF OTOF 1 1 Anne-Françoise Roux
00163422 S1529 PubMed: Baux 2017 proband M - France - - 0 - - DFNB - OTOF OTOF 2 1 Anne-Françoise Roux
00163424 S1777 PubMed: Baux 2017 proband M - France - - 0 - - DFNB - OTOF OTOF 2 1 Anne-Françoise Roux
00163425 - PubMed: Choi et al,.2008 - - - Pakistan - - 0 - - DFNB severe-profound OTOF OTOF 3 1 Anne-Françoise Roux
00163426 - PubMed: De Keulenaer et al,.2012 proband - - Belgium - - 0 - - DFNB - OTOF OTOF 2 1 Anne-Françoise Roux
00163429 S1672 PubMed: Baux 2017 proband F - France - - 0 - - DFNB - OTOF OTOF 2 1 Anne-Françoise Roux
00163433 - PubMed: Rouillon et al., 2006 proband - - France - - 0 - - DFNB - OTOF OTOF 2 1 Anne-Françoise Roux
00163434 - PubMed: Rouillon et al., 2006 proband - - France - - 0 - - DFNB - OTOF OTOF 2 1 Anne-Françoise Roux
00163467 - PubMed: Wang et al,.2010 proband - - China - - 0 - - DFNB - OTOF OTOF 2 1 Anne-Françoise Roux
00163469 - PubMed: Choi et al,.2008 - - - Pakistan - - 0 - - DFNB severe-profound OTOF OTOF 1 1 Anne-Françoise Roux
00163472 - PubMed: Wang et al,.2011 no genotype in the publication - - China - - 0 - - DFNB - OTOF OTOF 1 1 Anne-Françoise Roux
00163473 - PubMed: Wang et al,.2011 no genotype in the publication - - China - - 0 - - DFNB - OTOF OTOF 1 1 Anne-Françoise Roux
00163474 - PubMed: Iwasa et al,.2013 - - - Japan - - 0 - - DFNB hearing loss level OTOF OTOF 1 1 Anne-Françoise Roux
00163475 - PubMed: Shahin et al,.2009 proband M - Palestine - - 0 - - DFNB - OTOF OTOF 1 1 Anne-Françoise Roux
00163476 - PubMed: Shahin et al,.2009 proband F - Palestine - - 0 - - DFNB - OTOF OTOF 1 1 Anne-Françoise Roux
00163478 - PubMed: Yang et al., 2013 proband - - China - - 0 - - DFNB - OTOF OTOF 2 1 Anne-Françoise Roux
00163482 - PubMed: Iwasa et al,.2013 - - - Japan - - 0 - - DFNB hearing loss level: profound OTOF OTOF 2 1 Anne-Françoise Roux
00163484 - PubMed: Choi et al,.2008 - - - Pakistan - - 0 - - DFNB severe-profound OTOF OTOF 3 1 Anne-Françoise Roux
00163485 - PubMed: Wang et al,.2011 no genotype in the publication - - China - - 0 - - DFNB - OTOF OTOF 1 1 Anne-Françoise Roux
00163486 - PubMed: Choi et al,.2008 - - - Pakistan - - 0 - - DFNB severe-profound OTOF OTOF 1 1 Anne-Françoise Roux
00163487 - PubMed: Iwasa et al,.2013 - - - Japan - - 0 - - DFNB hearing loss level: profound OTOF OTOF 1 1 Anne-Françoise Roux
00163489 - PubMed: Iwasa et al,.2013 - - - Japan - - 0 - - DFNB hearing loss level: profound OTOF OTOF 1 1 Anne-Françoise Roux
00163501 - PubMed: Choi et al,.2008 - - - Pakistan - - 0 - - DFNB severe-profound OTOF OTOF 1 1 Anne-Françoise Roux
00163512 - PubMed: Kalay et al., 2007 proband F - Turkey - - 0 - - DFNB - MYO15A MYO15A 12 1 Anne-Françoise Roux
00163514 - PubMed: Brownstein et al., 2011 proband M - Israel - - 0 - - DFNB - MYO15A MYO15A 2 1 Anne-Françoise Roux
00163515 - PubMed: Brownstein et al., 2011 relative M - - - - 0 - - DFNB - MYO15A MYO15A 2 1 Anne-Françoise Roux
00163516 - PubMed: Vozzi 2014 proband M - Qatar - - 0 - - DFNB - MYO15A MYO15A 1 1 Anne-Françoise Roux
00163518 - PubMed: Duman et al., 2011 proband - - Turkey - - 0 - - DFNB - MYO15A MYO15A 1 1 Anne-Françoise Roux
00163519 - PubMed: Vona et al., 2014 proband M - Germany - - 0 - - DFNB - MYO15A MYO15A 2 1 Anne-Françoise Roux
00163520 - PubMed: Miyagawa et al., 2013 proband M - Japan - - 0 - - DFNB - MYO15A MYO15A 2 1 Anne-Françoise Roux
00163521 - PubMed: Bashir et al., 2012 proband F - Pakistan - - 0 - - DFNB - MYO15A MYO15A 1 1 Anne-Françoise Roux
00163522 - PubMed: Miyagawa et al., 2013 proband M - Japan - - 0 - - DFNB - MYO15A MYO15A 2 1 Anne-Françoise Roux
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9     Next › Last »