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

Official abbreviation DFNB
Name deafness, autosomal recessive (DFNB)
OMIM ID -
Inheritance -
Individuals reported having this disease 912
Phenotype entries for this disease 911
Associated with 13 genes CDH23, CIB2, FAM65B, HGF, MYO15A, MYO7A, OTOF, OTOG, PCDH15, S1PR2, STRC, TMC1, USH1C
Associated tissues -
Disease features autosomal recessive
Remarks -


Individuals

912 entries on 10 pages. Showing entries 1 - 100.
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00154471 29293958-FamFT1 PubMed: Imtiaz 2018 4-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Tunisia - - - - - 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 - - - - - 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 - - - - - 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 - - - - - 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 - - - - - 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 - - - - - 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 - - - - - 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 - - - - - 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 - - - - - 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 - - - - - 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 - - - - - DFNB see paper; ... S1PR2 MUC16, S1PR2 2 5 Johan den Dunnen
00163052 - PubMed: Ahmed et al., 2003 proband F - Pakistan - - - - - DFNB Vestibular dysfunction MYO6 MYO6 1 1 Anne-Françoise Roux
00163053 - PubMed: Ahmed et al., 2003 relative M - Pakistan - - - - - DFNB - MYO6 MYO6 1 1 Anne-Françoise Roux
00163054 - PubMed: Ahmed et al., 2003 relative M - Pakistan - - - - - DFNB Mild facial dysmorphology MYO6 MYO6 1 1 Anne-Françoise Roux
00163055 - PubMed: Ahmed et al., 2003 relative M - Pakistan - - - - - DFNB Mild facial dysmorphology MYO6 MYO6 1 1 Anne-Françoise Roux
00163056 - PubMed: Ahmed et al., 2003 relative F - Pakistan - - - - - DFNB RP and vestibular abnormality MYO6 MYO6 1 1 Anne-Françoise Roux
00163057 - PubMed: Ahmed et al., 2003 relative F - Pakistan - - - - - DFNB - MYO6 MYO6 1 1 Anne-Françoise Roux
00163068 - PubMed: Ahmed et al., 2003 proband M - Pakistan - - - - - DFNB - MYO6 MYO6 1 1 Anne-Françoise Roux
00163069 - PubMed: Yang et al., 2013 proband - - China - - - - - DFNB - MYO6 MYO6 2 1 Anne-Françoise Roux
00163104 - PubMed: Brownstein et al., 2014 proband M - Palestine - - - - - DFNB - MYO6 MYO6 1 1 Anne-Françoise Roux
00163105 - PubMed: Brownstein et al., 2014 relative F - Palestine - - - - - DFNB - MYO6 MYO6 1 1 Anne-Françoise Roux
00163116 - PubMed: Ahmed et al., 2003 proband M - Pakistan - - - - - DFNB - MYO6 MYO6 1 1 Anne-Françoise Roux
00163117 - PubMed: Ahmed et al., 2003 relative F - Pakistan - - - - - DFNB - MYO6 MYO6 1 1 Anne-Françoise Roux
00163118 - PubMed: Ahmed et al., 2003 relative F - Pakistan - - - - - DFNB - MYO6 MYO6 1 1 Anne-Françoise Roux
00163119 - PubMed: Ahmed et al., 2003 relative F - Pakistan - - - - - DFNB - MYO6 MYO6 1 1 Anne-Françoise Roux
00163120 - PubMed: Ahmed et al., 2003 relative F - Pakistan - - - - - DFNB - MYO6 MYO6 1 1 Anne-Françoise Roux
00163190 - PubMed: Meyer et al., 2007 proband F - Iran - - - - - DFNB - TECTA TECTA 1 1 Anne-Françoise Roux
00163191 S1539 PubMed: Baux 2017 proband F - France - - - - - DFNB - TECTA TECTA 2 1 Anne-Françoise Roux
00163194 - PubMed: Naz et al., 2003 proband F - Iran - - - - - DFNB - TECTA TECTA 1 1 Anne-Françoise Roux
00163195 - PubMed: Hutchin et al., 2005 proband - - - - - - - - DFNB - TECTA TECTA 3 1 Anne-Françoise Roux
00163198 - PubMed: Yang et al., 2013 proband - - China - - - - - DFNB - TECTA TECTA 1 1 Anne-Françoise Roux
00163205 - PubMed: Mustapha et al., 1999 proband F - Lebanon - - - - - DFNB - TECTA TECTA 1 1 Anne-Françoise Roux
00163206 - PubMed: Meyer et al., 2007 proband M - Iran - - - - - DFNB - TECTA TECTA 1 1 Anne-Françoise Roux
00163224 - PubMed: Sagong et al., 2011 proband F - Korea - - - - - DFNB - TECTA TECTA 2 1 Anne-Françoise Roux
00163225 - PubMed: Diaz-Horta et al,.2012 - - - Iran - - - - - DFNB - TECTA TECTA 1 1 Anne-Françoise Roux
00163226 - PubMed: Meyer et al., 2007 proband M - Iran - - - - - DFNB - TECTA TECTA 1 1 Anne-Françoise Roux
00163270 - PubMed: Naz et al., 2003 proband F - Pakistan - - - - - DFNB - TECTA TECTA 1 1 Anne-Françoise Roux
00163272 - PubMed: Alasti et al., 2008 proband F - Iran - - - - - DFNB - TECTA TECTA 1 1 Anne-Françoise Roux
00163314 - PubMed: Ben-Salem et al., 2014 proband M - United Arab Emirates - - - - - DFNB - DFNB31 DFNB31 1 1 Anne-Françoise Roux
00163315 - PubMed: Yang et al., 2013 proband - - China - - - - - DFNB - DFNB31 DFNB31 2 1 Anne-Françoise Roux
00163320 - PubMed: Tlili et al., 2005 proband M - Tunisia - - - - - DFNB - DFNB31 DFNB31 5 1 David Baux
00163321 - PubMed: Tlili et al., 2005 relative F - Tunisia - - - - - DFNB - DFNB31 DFNB31 5 1 David Baux
00163322 - PubMed: Tlili et al., 2005 relative F - Tunisia - - - - - DFNB - DFNB31 DFNB31 5 1 David Baux
00163323 - PubMed: Tlili et al., 2005 relative F - Tunisia - - - - - DFNB - DFNB31 DFNB31 5 1 David Baux
00163360 - PubMed: Mburu et al., 2003 proband F - Jordan - - - - - DFNB - DFNB31 DFNB31 1 1 David Baux
00163361 - PubMed: Mburu et al., 2003 relative M - Jordan - - - - - DFNB - DFNB31 DFNB31 1 1 David Baux
00163362 - PubMed: Mburu et al., 2003 relative F - Jordan - - - - - DFNB - DFNB31 DFNB31 1 1 David Baux
00163363 - PubMed: Mburu et al., 2003 relative F - Jordan - - - - - DFNB - DFNB31 DFNB31 1 1 David Baux
00163364 - PubMed: Mburu et al., 2003 relative M - Jordan - - - - - DFNB - DFNB31 DFNB31 1 1 David Baux
00163365 - PubMed: Mburu et al., 2003 relative M - Jordan - - - - - DFNB - DFNB31 DFNB31 1 1 David Baux
00163378 - PubMed: Yasunaga et al,.2000 proband F - India - - - - - DFNB - OTOF OTOF 1 1 Anne-Françoise Roux
00163379 - PubMed: Yasunaga et al,.2000 proband M - India - - - - - DFNB - OTOF OTOF 1 1 Anne-Françoise Roux
00163380 - PubMed: Yasunaga et al,.2000 proband F - India - - - - - DFNB - OTOF OTOF 1 1 Anne-Françoise Roux
00163382 - PubMed: Choi et al,.2008 - - - Pakistan - - - - - DFNB - OTOF OTOF 4 1 Anne-Françoise Roux
00163385 - PubMed: Choi et al,.2008 - - - Pakistan - - - - - DFNB severe-profound OTOF OTOF 4 1 Anne-Françoise Roux
00163386 - PubMed: Choi et al,.2008 - - - Pakistan - - - - - DFNB severe-profound OTOF OTOF 2 1 Anne-Françoise Roux
00163387 - PubMed: Wang et al,.2011 no genotype in the publication - - China - - - - - DFNB - OTOF OTOF 1 1 Anne-Françoise Roux
00163389 - PubMed: Wang et al,.2010 proband - - China - - - - - DFNB - OTOF OTOF 1 1 Anne-Françoise Roux
00163390 - PubMed: Wang et al,.2011 no genotype in the publication - - China - - - - - DFNB - OTOF OTOF 1 1 Anne-Françoise Roux
00163391 - PubMed: Iwasa et al,.2013 - - - Japan - - - - - DFNB hearing loss level:profound OTOF OTOF 1 1 Anne-Françoise Roux
00163392 - PubMed: Choi et al,.2008 - - - Pakistan - - - - - DFNB severe-profound OTOF OTOF 2 1 Anne-Françoise Roux
00163395 - PubMed: Iwasa et al,.2013 - - - Japan - - - - - DFNB hearing loss level: severe OTOF OTOF 1 1 Anne-Françoise Roux
00163397 - PubMed: Choi et al,.2008 - - - Pakistan - - - - - DFNB severe-profound OTOF OTOF 1 1 Anne-Françoise Roux
00163407 - PubMed: Wang et al,.2010 proband - - China - - - - - DFNB - OTOF OTOF 1 1 Anne-Françoise Roux
00163413 - PubMed: Mahdieh et al,.2012 - - - Iran - - - - - DFNB profound OTOF OTOF 1 1 Anne-Françoise Roux
00163418 - PubMed: Iwasa et al,.2013 - - - Japan - - - - - DFNB hearing loss level: profound OTOF OTOF 2 1 Anne-Françoise Roux
00163419 - PubMed: Wang et al,.2011 no genotype in the publication - - China - - - - - DFNB - OTOF OTOF 1 1 Anne-Françoise Roux
00163420 - PubMed: Iwasa et al,.2013 - - - Japan - - - - - DFNB hearing loss level: profound OTOF OTOF 1 1 Anne-Françoise Roux
00163421 - PubMed: Iwasa et al,.2013 - - - Japan - - - - - DFNB hearing loss level: severe OTOF OTOF 1 1 Anne-Françoise Roux
00163422 S1529 PubMed: Baux 2017 proband M - France - - - - - DFNB - OTOF OTOF 2 1 Anne-Françoise Roux
00163424 S1777 PubMed: Baux 2017 proband M - France - - - - - DFNB - OTOF OTOF 2 1 Anne-Françoise Roux
00163425 - PubMed: Choi et al,.2008 - - - Pakistan - - - - - DFNB severe-profound OTOF OTOF 3 1 Anne-Françoise Roux
00163426 - PubMed: De Keulenaer et al,.2012 proband - - Belgium - - - - - DFNB - OTOF OTOF 2 1 Anne-Françoise Roux
00163429 S1672 PubMed: Baux 2017 proband F - France - - - - - DFNB - OTOF OTOF 2 1 Anne-Françoise Roux
00163433 - PubMed: Rouillon et al., 2006 proband - - France - - - - - DFNB - OTOF OTOF 2 1 Anne-Françoise Roux
00163434 - PubMed: Rouillon et al., 2006 proband - - France - - - - - DFNB - OTOF OTOF 2 1 Anne-Françoise Roux
00163467 - PubMed: Wang et al,.2010 proband - - China - - - - - DFNB - OTOF OTOF 2 1 Anne-Françoise Roux
00163469 - PubMed: Choi et al,.2008 - - - Pakistan - - - - - DFNB severe-profound OTOF OTOF 1 1 Anne-Françoise Roux
00163472 - PubMed: Wang et al,.2011 no genotype in the publication - - China - - - - - DFNB - OTOF OTOF 1 1 Anne-Françoise Roux
00163473 - PubMed: Wang et al,.2011 no genotype in the publication - - China - - - - - DFNB - OTOF OTOF 1 1 Anne-Françoise Roux
00163474 - PubMed: Iwasa et al,.2013 - - - Japan - - - - - DFNB hearing loss level OTOF OTOF 1 1 Anne-Françoise Roux
00163475 - PubMed: Shahin et al,.2009 proband M - Palestine - - - - - DFNB - OTOF OTOF 1 1 Anne-Françoise Roux
00163476 - PubMed: Shahin et al,.2009 proband F - Palestine - - - - - DFNB - OTOF OTOF 1 1 Anne-Françoise Roux
00163478 - PubMed: Yang et al., 2013 proband - - China - - - - - DFNB - OTOF OTOF 2 1 Anne-Françoise Roux
00163482 - PubMed: Iwasa et al,.2013 - - - Japan - - - - - DFNB hearing loss level: profound OTOF OTOF 2 1 Anne-Françoise Roux
00163484 - PubMed: Choi et al,.2008 - - - Pakistan - - - - - DFNB severe-profound OTOF OTOF 3 1 Anne-Françoise Roux
00163485 - PubMed: Wang et al,.2011 no genotype in the publication - - China - - - - - DFNB - OTOF OTOF 1 1 Anne-Françoise Roux
00163486 - PubMed: Choi et al,.2008 - - - Pakistan - - - - - DFNB severe-profound OTOF OTOF 1 1 Anne-Françoise Roux
00163487 - PubMed: Iwasa et al,.2013 - - - Japan - - - - - DFNB hearing loss level: profound OTOF OTOF 1 1 Anne-Françoise Roux
00163489 - PubMed: Iwasa et al,.2013 - - - Japan - - - - - DFNB hearing loss level: profound OTOF OTOF 1 1 Anne-Françoise Roux
00163501 - PubMed: Choi et al,.2008 - - - Pakistan - - - - - DFNB severe-profound OTOF OTOF 1 1 Anne-Françoise Roux
00163512 - PubMed: Kalay et al., 2007 proband F - Turkey - - - - - DFNB - MYO15A MYO15A 12 1 Anne-Françoise Roux
00163514 - PubMed: Brownstein et al., 2011 proband M - Israel - - - - - DFNB - MYO15A MYO15A 2 1 Anne-Françoise Roux
00163515 - PubMed: Brownstein et al., 2011 relative M - - - - - - - DFNB - MYO15A MYO15A 2 1 Anne-Françoise Roux
00163516 - PubMed: Vozzi 2014 proband M - Qatar - - - - - DFNB - MYO15A MYO15A 1 1 Anne-Françoise Roux
00163518 - PubMed: Duman et al., 2011 proband - - Turkey - - - - - DFNB - MYO15A MYO15A 1 1 Anne-Françoise Roux
00163519 - PubMed: Vona et al., 2014 proband M - Germany - - - - - DFNB - MYO15A MYO15A 2 1 Anne-Françoise Roux
00163520 - PubMed: Miyagawa et al., 2013 proband M - Japan - - - - - DFNB - MYO15A MYO15A 2 1 Anne-Françoise Roux
00163521 - PubMed: Bashir et al., 2012 proband F - Pakistan - - - - - DFNB - MYO15A MYO15A 1 1 Anne-Françoise Roux
00163522 - PubMed: Miyagawa et al., 2013 proband M - Japan - - - - - DFNB - MYO15A MYO15A 2 1 Anne-Françoise Roux
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