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data-file-height="40" /></span></span></div></td><td class="mbox-text"><div class="mbox-text-span">This article <b>needs more <a href="/wiki/Wikipedia:Identifying_reliable_sources_(medicine)" title="Wikipedia:Identifying reliable sources (medicine)">reliable medical references</a> for <a href="/wiki/Wikipedia:Verifiability" title="Wikipedia:Verifiability">verification</a> or relies too heavily on <a href="/wiki/Wikipedia:Primary_sources" class="mw-redirect" title="Wikipedia:Primary sources">primary sources</a></b>.<span class="hide-when-compact"> Please review the contents of the article and <a class="external text" href="https://en.wikipedia.org/w/index.php?title=Nonsyndromic_deafness&action=edit">add the appropriate references</a> if you can. Unsourced or poorly sourced material may be challenged and <a href="/wiki/Wikipedia:Verifiability#Burden_of_evidence" title="Wikipedia:Verifiability">removed</a>. <small><span class="plainlinks"><i>Find sources:</i> <a rel="nofollow" class="external text" href="https://www.google.com/search?as_eq=wikipedia&q=%22Nonsyndromic+deafness%22">"Nonsyndromic deafness"</a> – <a rel="nofollow" class="external text" href="https://www.google.com/search?tbm=nws&q=%22Nonsyndromic+deafness%22+-wikipedia&tbs=ar:1">news</a> <b>·</b> <a rel="nofollow" class="external text" href="https://www.google.com/search?&q=%22Nonsyndromic+deafness%22&tbs=bkt:s&tbm=bks">newspapers</a> <b>·</b> <a rel="nofollow" class="external text" href="https://www.google.com/search?tbs=bks:1&q=%22Nonsyndromic+deafness%22+-wikipedia">books</a> <b>·</b> <a rel="nofollow" class="external text" href="https://scholar.google.com/scholar?q=%22Nonsyndromic+deafness%22">scholar</a> <b>·</b> <a rel="nofollow" class="external text" href="https://www.jstor.org/action/doBasicSearch?Query=%22Nonsyndromic+deafness%22&acc=on&wc=on">JSTOR</a></span></small></span> <span class="date-container"><i>(<span class="date">November 2016</span>)</i></span></div></td><td class="mbox-imageright"><div class="mbox-image-div"><span typeof="mw:File"><span><img src="//upload.wikimedia.org/wikipedia/commons/thumb/a/ae/Star_of_life.svg/52px-Star_of_life.svg.png" decoding="async" width="52" height="50" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/a/ae/Star_of_life.svg/77px-Star_of_life.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/a/ae/Star_of_life.svg/103px-Star_of_life.svg.png 2x" data-file-width="198" data-file-height="192" /></span></span></div></td></tr></tbody></table> <div class="shortdescription nomobile noexcerpt noprint searchaux" style="display:none">Medical condition</div><style data-mw-deduplicate="TemplateStyles:r1257001546">.mw-parser-output .infobox-subbox{padding:0;border:none;margin:-3px;width:auto;min-width:100%;font-size:100%;clear:none;float:none;background-color:transparent}.mw-parser-output .infobox-3cols-child{margin:auto}.mw-parser-output .infobox .navbar{font-size:100%}@media screen{html.skin-theme-clientpref-night .mw-parser-output .infobox-full-data:not(.notheme)>div:not(.notheme)[style]{background:#1f1f23!important;color:#f8f9fa}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .infobox-full-data:not(.notheme) div:not(.notheme){background:#1f1f23!important;color:#f8f9fa}}@media(min-width:640px){body.skin--responsive .mw-parser-output .infobox-table{display:table!important}body.skin--responsive .mw-parser-output .infobox-table>caption{display:table-caption!important}body.skin--responsive .mw-parser-output .infobox-table>tbody{display:table-row-group}body.skin--responsive .mw-parser-output .infobox-table tr{display:table-row!important}body.skin--responsive .mw-parser-output .infobox-table th,body.skin--responsive .mw-parser-output .infobox-table td{padding-left:inherit;padding-right:inherit}}</style><table class="infobox ib-medical-condition"><tbody><tr><th colspan="2" class="infobox-above" style="background:#ccc">Nonsyndromic deafness</th></tr><tr><th scope="row" class="infobox-label">Other names</th><td class="infobox-data">Non-syndromic genetic deafness</td></tr></tbody></table> <p><b>Nonsyndromic deafness</b> is <a href="/wiki/Hearing_impairment" class="mw-redirect" title="Hearing impairment">hearing loss</a> that is not associated with other signs and symptoms. In contrast, syndromic <a href="/wiki/Deafness" title="Deafness">deafness</a> involves hearing loss that occurs with abnormalities in other parts of the body. Nonsyndromic deafness constitutes 75% of all hearing loss cases, and an estimated 100 genes are thought to be linked to this condition. About 80% are linked to <a href="/wiki/Autosomal_recessive" class="mw-redirect" title="Autosomal recessive">autosomal recessive</a> inheritance, 15% to <a href="/wiki/Autosomal_dominant" class="mw-redirect" title="Autosomal dominant">autosomal dominant</a> inheritance, 1-3% through the X chromosome, and 0.5-1% are associated with <a href="/wiki/Mitochondrial_inheritance" class="mw-redirect" title="Mitochondrial inheritance">mitochondrial inheritance</a>.<sup id="cite_ref-1" class="reference"><a href="#cite_note-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-2" class="reference"><a href="#cite_note-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> </p><p>Genetic changes are related to the following types of nonsyndromic deafness: </p> <ul><li>DFNA: nonsyndromic deafness, autosomal dominant</li> <li>DFNB: nonsyndromic deafness, autosomal recessive</li> <li>DFNX: nonsyndromic deafness, <a href="/wiki/X_chromosome" title="X chromosome">X-linked</a></li> <li>nonsyndromic deafness, <a href="/wiki/Mitochondrial" class="mw-redirect" title="Mitochondrial">mitochondrial</a></li></ul> <p>Each type is numbered in the order in which it was described. For example, DFNA1 was the first described autosomal dominant type of nonsyndromic deafness. Mitochondrial nonsyndromic deafness involves changes to the small amount of <a href="/wiki/DNA" title="DNA">DNA</a> found in mitochondria, the energy-producing centers within cells.<sup id="cite_ref-3" class="reference"><a href="#cite_note-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> </p><p>Most forms of nonsyndromic deafness are associated with permanent hearing loss caused by damage to structures in the inner ear. The inner ear consists of three parts: a snail-shaped structure called the <a href="/wiki/Cochlea" title="Cochlea">cochlea</a> that helps process sound, nerves that send information from the cochlea to the brain, and structures involved with balance. Loss of hearing caused by changes in the inner ear is called <a href="/wiki/Sensorineural_hearing_loss" title="Sensorineural hearing loss">sensorineural deafness</a>. Hearing loss that results from changes in the <a href="/wiki/Middle_ear" title="Middle ear">middle ear</a> is called conductive hearing loss. The middle ear contains three tiny <a href="/wiki/Bone" title="Bone">bones</a> that help transfer sound from the eardrum to the inner ear. Some forms of nonsyndromic deafness involve changes in both the inner ear and the middle ear; this combination is called mixed hearing loss. </p><p>The severity of hearing loss varies and can change over time. It can affect one ear (unilateral) or both ears (bilateral). Degrees of hearing loss range from mild (difficulty understanding soft speech) to profound (inability to hear even very loud noises). The loss may be stable, or it may progress as a person gets older. Particular types of nonsyndromic deafness often show distinctive patterns of hearing loss. For example, the loss may be more pronounced at high, middle, or low <a href="/wiki/Pitch_(music)" title="Pitch (music)">tones</a>. </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Classification">Classification</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Nonsyndromic_deafness&action=edit&section=1" title="Edit section: Classification"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Nonsyndromic deafness can occur at any age. Hearing loss that is present before a child learns to speak is classified as <a href="/wiki/Prelingual_deafness" title="Prelingual deafness">prelingual</a> or congenital. Hearing loss that occurs after the development of speech is classified as <a href="/wiki/Post-lingual_deafness" title="Post-lingual deafness">postlingual</a>. </p> <div class="mw-heading mw-heading2"><h2 id="Genetics">Genetics</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Nonsyndromic_deafness&action=edit&section=2" title="Edit section: Genetics"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Nonsyndromic deafness can have different patterns of inheritance. Between 75% and 80% of cases are inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Usually, each parent of an individual with autosomal recessive deafness is a carrier of one copy of the altered gene. These carriers do not have hearing loss. </p><p>Another 20% to 25% of nonsyndromic deafness cases are autosomal dominant, which means one copy of the altered gene in each cell is sufficient to result in hearing loss. People with autosomal dominant deafness most often inherit an altered copy of the gene from a parent who has hearing loss. </p><p>Between 1% and 2% of cases show an X-linked pattern of inheritance, which means the mutated gene responsible for the condition is located on the X chromosome. Males with X-linked nonsyndromic deafness tend to develop more severe hearing loss earlier in life than females who inherit a copy of the same <a href="/wiki/Mutation" title="Mutation">gene mutation</a>. Fathers will not pass X-linked traits to their sons since they do not pass on the X chromosome to their male offspring. </p><p>Mitochondrial nonsyndromic deafness, which results from changes to the DNA in mitochondria, occurs in fewer than 1% of cases in the United States. The altered mitochondrial DNA is passed from a mother to her sons and daughters. This type of deafness is not inherited from fathers. </p><p>Late onset progressive deafness is the most common neurological disability of the elderly. Although hearing loss of greater than 25 decibels is present in only 1% of young adults between the ages of 18 and 24 years of age, this increases to 10% in persons between 55 and 64 years of age and approximately 50% in octogenarians. </p><p>The relative contribution of heredity to age-related hearing impairment is not known, however the majority of inherited late-onset deafness is autosomal dominant and non-syndromic (Van Camp et al., 1997). Over forty genes associated with autosomal dominant non-syndromic hearing loss have been localized and of these fifteen have been cloned. </p> <div class="mw-heading mw-heading3"><h3 id="Genes_related_to_nonsyndromic_deafness">Genes related to nonsyndromic deafness</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Nonsyndromic_deafness&action=edit&section=3" title="Edit section: Genes related to nonsyndromic deafness"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Mutations in the <i><a href="/wiki/ACTG1" class="mw-redirect" title="ACTG1">ACTG1</a></i>, <i><a href="/wiki/Calcium_binding_protein_2" title="Calcium binding protein 2">CABP2</a></i>, <i><a href="/wiki/CDH23" title="CDH23">CDH23</a></i>, <i><a href="/wiki/CLDN14" title="CLDN14">CLDN14</a></i>, <i><a href="/wiki/COCH_protein" class="mw-redirect" title="COCH protein">COCH</a></i>, <i><a href="/wiki/COL11A2" class="mw-redirect" title="COL11A2">COL11A2</a></i>, <i><a href="/wiki/DFNA5" title="DFNA5">DFNA5</a></i>, <i><a href="/wiki/Espin_(protein)" title="Espin (protein)">ESPN</a></i>, <i><a href="/wiki/EYA4" class="mw-redirect" title="EYA4">EYA4</a></i>, <i><a href="/wiki/GJB2" title="GJB2">GJB2</a></i>, <i><a href="/wiki/GJB6" title="GJB6">GJB6</a></i>, <i><a href="/wiki/KCNQ4" title="KCNQ4">KCNQ4</a></i>, <i><a href="/wiki/MYO15A" title="MYO15A">MYO15A</a></i>, <i><a href="/wiki/MYO6" class="mw-redirect" title="MYO6">MYO6</a></i>, <i><a href="/wiki/MYO7A" title="MYO7A">MYO7A</a></i>, <i><a href="/wiki/OTOF" class="mw-redirect" title="OTOF">OTOF</a></i>, <i><a href="/wiki/PCDH15" title="PCDH15">PCDH15</a></i>, <i><a href="/wiki/POU3F4" title="POU3F4">POU3F4</a></i>, <i><a href="/wiki/SLC26A4" class="mw-redirect" title="SLC26A4">SLC26A4</a></i>, <i><a href="/wiki/STRC" title="STRC">STRC</a></i>, <i><a href="/wiki/TECTA" title="TECTA">TECTA</a></i>, <i><a href="/wiki/TMC1" title="TMC1">TMC1</a></i>, <i><a href="/w/index.php?title=TMIE&action=edit&redlink=1" class="new" title="TMIE (page does not exist)">TMIE</a></i>, <i><a href="/wiki/TMPRSS3" title="TMPRSS3">TMPRSS3</a></i>, <i><a href="/wiki/USH1C" title="USH1C">USH1C</a></i>, and <i><a href="/wiki/WFS1" title="WFS1">WFS1</a></i> genes cause nonsyndromic deafness, with weaker evidence currently implicating genes <i><a href="/wiki/CCDC50" title="CCDC50">CCDC50</a></i>, <i><a href="/wiki/DIAPH1" title="DIAPH1">DIAPH1</a></i>, <i><a href="/wiki/DSPP" class="mw-redirect" title="DSPP">DSPP</a></i>, <i><a href="/wiki/ESRRB" class="mw-redirect" title="ESRRB">ESRRB</a></i>, <i><a href="/wiki/GJB3" title="GJB3">GJB3</a></i>, <i><a href="/wiki/GRHL2" class="mw-redirect" title="GRHL2">GRHL2</a></i>, <i><a href="/wiki/GRXCR1" title="GRXCR1">GRXCR1</a></i>, <i><a href="/wiki/Hepatocyte_growth_factor" title="Hepatocyte growth factor">HGF</a></i>, <i><a href="/wiki/LHFPL5" title="LHFPL5">LHFPL5</a></i>, <i><a href="/wiki/LOXHD1" title="LOXHD1">LOXHD1</a></i>, <i><a href="/wiki/LRTOMT" title="LRTOMT">LRTOMT</a></i>, <i><a href="/wiki/MARVELD2" title="MARVELD2">MARVELD2</a></i>, <i><a href="/wiki/MIR96" title="MIR96">MIR96</a></i>, <i><a href="/wiki/MYH14" title="MYH14">MYH14</a></i>, <i><a href="/wiki/MYH9" title="MYH9">MYH9</a></i>, <i><a href="/wiki/MYO1A" class="mw-redirect" title="MYO1A">MYO1A</a></i>, <i><a href="/wiki/MYO3A" class="mw-redirect" title="MYO3A">MYO3A</a></i>, <i><a href="/wiki/OTOA" class="mw-redirect" title="OTOA">OTOA</a></i>, <i><a href="/wiki/PJVK" class="mw-redirect" title="PJVK">PJVK</a></i>, <i><a href="/wiki/POU4F3" title="POU4F3">POU4F3</a></i>, <i><a href="/wiki/PRPS1" class="mw-redirect" title="PRPS1">PRPS1</a></i>, <i><a href="/wiki/PTPRQ" class="mw-redirect" title="PTPRQ">PTPRQ</a></i>, <i><a href="/wiki/RDX" title="RDX">RDX</a></i>, <i><a href="/wiki/SERPINB6" title="SERPINB6">SERPINB6</a></i>, <i><a href="/wiki/SIX1" class="mw-redirect" title="SIX1">SIX1</a></i>, <i><a href="/wiki/SLC17A8" class="mw-redirect" title="SLC17A8">SLC17A8</a></i>, <i><a href="/w/index.php?title=TPRN&action=edit&redlink=1" class="new" title="TPRN (page does not exist)">TPRN</a></i>, <i><a href="/wiki/TRIOBP" title="TRIOBP">TRIOBP</a></i>, <i><a href="/wiki/SLC26A5" class="mw-redirect" title="SLC26A5">SLC26A5</a></i>, and <i><a href="/wiki/DFNB31" title="DFNB31">WHRN</a></i>. </p><p>The causes of nonsyndromic deafness can be complex. Researchers have identified more than 30 genes that, when mutated, may cause nonsyndromic deafness; however, some of these genes have not been fully characterized. Many genes related to deafness are involved in the development and function of the inner ear. Gene mutations interfere with critical steps in processing sound, resulting in hearing loss. Different mutations in the same gene can cause different types of hearing loss, and some genes are associated with both syndromic and nonsyndromic deafness. <a href="/wiki/Congenital_disorder" class="mw-redirect" title="Congenital disorder">In many families</a>, the gene(s) involved have yet to be identified. </p><p>Deafness can also result from environmental factors or a combination of genetic and <a href="/wiki/Environment_(biophysical)" class="mw-redirect" title="Environment (biophysical)">environmental</a> factors, including certain medications, peri-natal infections (infections occurring before or after birth), and exposure to loud noise over an extended period. </p><p>Types include: </p> <table class="sortable wikitable"> <tbody><tr> <th><a href="/wiki/OMIM" class="mw-redirect" title="OMIM">OMIM</a> </th> <th>Gene </th> <th>Type </th></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/124900">124900</a> </td> <td><a href="/wiki/DIAPH1" title="DIAPH1">DIAPH1</a> </td> <td>DFNA1 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/600101">600101</a> </td> <td><a href="/wiki/KCNQ4" title="KCNQ4">KCNQ4</a> </td> <td>DFNA2A </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/612644">612644</a> </td> <td><a href="/wiki/GJB3" title="GJB3">GJB3</a> </td> <td>DFNA2B </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/601544">601544</a> </td> <td><a href="/wiki/GJB2" title="GJB2">GJB2</a> </td> <td>DFNA3A </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/612643">612643</a> </td> <td><a href="/wiki/GJB6" title="GJB6">GJB6</a> </td> <td>DFNA3B </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/600652">600652</a> </td> <td><a href="/wiki/MYH14" title="MYH14">MYH14</a> </td> <td>DFNA4 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/600994">600994</a> </td> <td><a href="/wiki/DFNA5" title="DFNA5">DFNA5</a> </td> <td>DFNA5 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/601543">601543</a> </td> <td><a href="/wiki/TECTA" title="TECTA">TECTA</a> </td> <td>DFNA8/12 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/601369">601369</a> </td> <td><a href="/wiki/COCH_protein" class="mw-redirect" title="COCH protein">COCH</a> </td> <td>DFNA9 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/601316">601316</a> </td> <td><a href="/wiki/EYA4" class="mw-redirect" title="EYA4">EYA4</a> </td> <td>DFNA10 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/601317">601317</a> </td> <td><a href="/wiki/MYO7A" title="MYO7A">MYO7A</a> </td> <td>DFNA11, neurosensory </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/601868">601868</a> </td> <td><a href="/wiki/COL11A2" class="mw-redirect" title="COL11A2">COL11A2</a> </td> <td>DFNA13 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/602459">602459</a> </td> <td><a href="/wiki/POU4F3" title="POU4F3">POU4F3</a> </td> <td>DFNA15 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/603622">603622</a> </td> <td><a href="/wiki/MYH9" title="MYH9">MYH9</a> </td> <td>DFNA17 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/604717">604717</a> </td> <td><a href="/wiki/ACTG1" class="mw-redirect" title="ACTG1">ACTG1</a> </td> <td>DFNA20/26 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/606346">606346</a> </td> <td><a href="/wiki/MYO6" class="mw-redirect" title="MYO6">MYO6</a> </td> <td>DFNA22 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/605192">605192</a> </td> <td><a href="/wiki/SIX1" class="mw-redirect" title="SIX1">SIX1</a> </td> <td>DFNA23 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/605583">605583</a> </td> <td><a href="/wiki/SLC17A8" class="mw-redirect" title="SLC17A8">SLC17A8</a> </td> <td>DFNA25 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/608641">608641</a> </td> <td><a href="/wiki/GRHL2" class="mw-redirect" title="GRHL2">GRHL2</a> </td> <td>DFNA28 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/606705">606705</a> </td> <td><a href="/wiki/TMC1" title="TMC1">TMC1</a> </td> <td>DFNA36 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/605594">605594</a> </td> <td><a href="/wiki/DSPP" class="mw-redirect" title="DSPP">DSPP</a> </td> <td>DFNA36, with dentinogenesis </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/607453">607453</a> </td> <td><a href="/wiki/CCDC50" title="CCDC50">CCDC50</a> </td> <td>DFNA44 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/607841">607841</a> </td> <td><a href="/wiki/MYO1A" class="mw-redirect" title="MYO1A">MYO1A</a> </td> <td>DFNA48 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/613074">613074</a> </td> <td><a href="/wiki/MIR96" title="MIR96">MIR96</a> </td> <td>DFNA50 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/220290">220290</a> </td> <td><a href="/wiki/GJB2" title="GJB2">GJB2</a> </td> <td>DFNB1A </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/612645">612645</a> </td> <td><a href="/wiki/GJB6" title="GJB6">GJB6</a> </td> <td>DFNB1B </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/600060">600060</a> </td> <td><a href="/wiki/MYO7A" title="MYO7A">MYO7A</a> </td> <td>DFNB2, neurosensory (see also <a href="/wiki/Usher_syndrome" title="Usher syndrome">Usher syndrome</a>) </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/600316">600316</a> </td> <td><a href="/wiki/MYO15A" title="MYO15A">MYO15A</a> </td> <td>DFNB3 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/600971">600971</a> </td> <td><a href="/w/index.php?title=TMIE&action=edit&redlink=1" class="new" title="TMIE (page does not exist)">TMIE</a> </td> <td>DFNB6 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/600974">600974</a> </td> <td><a href="/wiki/TMC1" title="TMC1">TMC1</a> </td> <td>DFNB7 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/601072">601072</a> </td> <td><a href="/wiki/TMPRSS3" title="TMPRSS3">TMPRSS3</a> </td> <td>DFNB8, childhood onset </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/601071">601071</a> </td> <td><a href="/wiki/OTOF" class="mw-redirect" title="OTOF">OTOF</a> </td> <td>DFNB9 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/601386">601386</a> </td> <td><a href="/wiki/CDH23" title="CDH23">CDH23</a> </td> <td>DFNB12 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/603720">603720</a> </td> <td><a href="/wiki/STRC" title="STRC">STRC</a> </td> <td>DFNB16 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/602092">602092</a> </td> <td><a href="/wiki/USH1C" title="USH1C">USH1C</a> </td> <td>DFNB18 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/603629">603629</a> </td> <td><a href="/wiki/TECTA" title="TECTA">TECTA</a> </td> <td>DFNB21 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/607039">607039</a> </td> <td><a href="/wiki/OTOA" class="mw-redirect" title="OTOA">OTOA</a> </td> <td>DFNB22 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/609533">609533</a> </td> <td><a href="/wiki/PCDH15" title="PCDH15">PCDH15</a> </td> <td>DFNB23 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/611022">611022</a> </td> <td><a href="/wiki/RDX" title="RDX">RDX</a> </td> <td>DFNB24 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/613285">613285</a> </td> <td><a href="/wiki/GRXCR1" title="GRXCR1">GRXCR1</a> </td> <td>DFNB25 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/609823">609823</a> </td> <td><a href="/wiki/TRIOBP" title="TRIOBP">TRIOBP</a> </td> <td>DFNB28 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/614035">614035</a> </td> <td><a href="/wiki/CLDN14" title="CLDN14">CLDN14</a> </td> <td>DFNB29 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/607101">607101</a> </td> <td><a href="/wiki/MYO3A" class="mw-redirect" title="MYO3A">MYO3A</a> </td> <td>DFNB30 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/607084">607084</a> </td> <td><a href="/wiki/DFNB31" title="DFNB31">WHRN</a> </td> <td>DFNB31 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/608565">608565</a> </td> <td><a href="/wiki/ESRRB" class="mw-redirect" title="ESRRB">ESRRB</a> </td> <td>DFNB35 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/609006">609006</a> </td> <td><a href="/wiki/Espin_(protein)" title="Espin (protein)">ESPN</a> </td> <td>DFNB36 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/607821">607821</a> </td> <td><a href="/wiki/MYO6" class="mw-redirect" title="MYO6">MYO6</a> </td> <td>DFNB37 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/608265">608265</a> </td> <td><a href="/wiki/Hepatocyte_growth_factor" title="Hepatocyte growth factor">HGF</a> </td> <td>DFNB39 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/610153">610153</a> </td> <td><a href="/wiki/MARVELD2" title="MARVELD2">MARVELD2</a> </td> <td>DFNB49 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/609706">609706</a> </td> <td><a href="/wiki/COL11A2" class="mw-redirect" title="COL11A2">COL11A2</a> </td> <td>DFNB53 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/610220">610220</a> </td> <td><a href="/wiki/PJVK" class="mw-redirect" title="PJVK">PJVK</a> </td> <td>DFNB59 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/611451">611451</a> </td> <td><a href="/wiki/LRTOMT" title="LRTOMT">LRTOMT</a> </td> <td>DFNB63 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/610265">610265</a> </td> <td><a href="/wiki/LHFPL5" title="LHFPL5">LHFPL5</a> </td> <td>DFNB67 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/613079">613079</a> </td> <td><a href="/wiki/LOXHD1" title="LOXHD1">LOXHD1</a> </td> <td>DFNB77 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/613307">613307</a> </td> <td><a href="/w/index.php?title=TPRN&action=edit&redlink=1" class="new" title="TPRN (page does not exist)">TPRN</a> </td> <td>DFNB79 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/613391">613391</a> </td> <td><a href="/wiki/PTPRQ" class="mw-redirect" title="PTPRQ">PTPRQ</a> </td> <td>DFNB84 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/613453">613453</a> </td> <td><a href="/wiki/SERPINB6" title="SERPINB6">SERPINB6</a> </td> <td>DFNB91 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/614899">614899</a> </td> <td><a href="/wiki/CABP2" class="mw-redirect" title="CABP2">CABP2</a> </td> <td>DFNB93 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/304500">304500</a> </td> <td><a href="/wiki/PRPS1" class="mw-redirect" title="PRPS1">PRPS1</a> </td> <td>DFNX1 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/304400">304400</a> </td> <td><a href="/wiki/POU3F4" title="POU3F4">POU3F4</a> </td> <td>DFNX2 </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/580000">580000</a> </td> <td><a href="/wiki/MT-RNR1" title="MT-RNR1">MT-RNR1</a>, <a href="/wiki/Cytochrome_c_oxidase_subunit_I" title="Cytochrome c oxidase subunit I">COX1</a><sup id="cite_ref-pmid20301595_4-0" class="reference"><a href="#cite_note-pmid20301595-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </td> <td>deafness, <a href="/wiki/Aminoglycoside" title="Aminoglycoside">aminoglycoside</a>-induced </td></tr> <tr> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/500008">500008</a> </td> <td>(several mtDNA) </td> <td>DFN, sensorineural, mt </td></tr></tbody></table> <div class="mw-heading mw-heading2"><h2 id="Diagnosis">Diagnosis</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Nonsyndromic_deafness&action=edit&section=4" title="Edit section: Diagnosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The diagnosis of nonsyndromic deafness involves a comprehensive assessment to determine the cause of hearing loss in an individual without associated syndromic features. Key steps in the diagnosis may include: </p> <ul><li><b>Clinical evaluation:</b> A detailed medical history will be obtained to identify factors that may contribute to hearing loss, such as exposure to loud noise, ototoxic medications, or a family history of hearing impairment. Additionally, a physical examination will be conducted to check for visible abnormalities or signs of underlying conditions.<sup id="cite_ref-5" class="reference"><a href="#cite_note-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-6" class="reference"><a href="#cite_note-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup></li> <li><b>Genetic testing:</b> Genetic testing may be recommended, especially if there is a family history of hearing loss. Nonsyndromic deafness can be caused by mutations in various genes associated with auditory function. Besides, high-throughput DNA sequencing methods can be employed to screen multiple genes simultaneously.<sup id="cite_ref-7" class="reference"><a href="#cite_note-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup></li> <li><b>Audiological testing:</b> This may include different tests such as <a href="/wiki/Pure-tone_audiometry" title="Pure-tone audiometry">Pure-tone audiometry</a>, Speech audiometry, <a href="/wiki/Otoacoustic_emission" title="Otoacoustic emission">Otoacoustic emissions</a>, or <a href="/wiki/Auditory_brainstem_response" title="Auditory brainstem response">Auditory brainstem response</a>.<sup id="cite_ref-8" class="reference"><a href="#cite_note-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup></li></ul> <p>In some cases, other methods may be conducted, including imaging techniques such as <a href="/wiki/CT_scan" title="CT scan">CT</a> or <a href="/wiki/MRI" class="mw-redirect" title="MRI">MRI</a>, to examine the structures of the inner ear and identify any abnormalities in the cochlea or <a href="/wiki/Auditory_nerve" class="mw-redirect" title="Auditory nerve">auditory nerve</a>. Screening blood tests for metabolic conditions or infections that could contribute to hearing loss may also be recommended.<sup id="cite_ref-9" class="reference"><a href="#cite_note-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-10" class="reference"><a href="#cite_note-10"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Treatment">Treatment</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Nonsyndromic_deafness&action=edit&section=5" title="Edit section: Treatment"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Treatment is supportive and consists of management of- manifestations. Use of hearing aids and/or cochlear implant, suitable educational programs can be offered. Periodic surveillance is also important.<sup id="cite_ref-11" class="reference"><a href="#cite_note-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Epidemiology">Epidemiology</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Nonsyndromic_deafness&action=edit&section=6" title="Edit section: Epidemiology"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>About 1 in 1,000 children in the United States is born with profound deafness. By age 9, about 3 in 1,000 children have hearing loss that affects the activities of daily living. More than half of these cases are caused by genetic factors. Most cases of genetic deafness (70% to 80%) are nonsyndromic; the remaining cases are caused by specific genetic syndromes. In adults, the chance of developing hearing loss increases with age; hearing loss affects half of all people older than 80 years. </p> <div class="mw-heading mw-heading2"><h2 id="References">References</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Nonsyndromic_deafness&action=edit&section=7" title="Edit section: References"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1239543626">.mw-parser-output .reflist{margin-bottom:0.5em;list-style-type:decimal}@media screen{.mw-parser-output .reflist{font-size:90%}}.mw-parser-output .reflist .references{font-size:100%;margin-bottom:0;list-style-type:inherit}.mw-parser-output .reflist-columns-2{column-width:30em}.mw-parser-output .reflist-columns-3{column-width:25em}.mw-parser-output .reflist-columns{margin-top:0.3em}.mw-parser-output .reflist-columns ol{margin-top:0}.mw-parser-output .reflist-columns li{page-break-inside:avoid;break-inside:avoid-column}.mw-parser-output .reflist-upper-alpha{list-style-type:upper-alpha}.mw-parser-output .reflist-upper-roman{list-style-type:upper-roman}.mw-parser-output .reflist-lower-alpha{list-style-type:lower-alpha}.mw-parser-output .reflist-lower-greek{list-style-type:lower-greek}.mw-parser-output .reflist-lower-roman{list-style-type:lower-roman}</style><div class="reflist"> <div class="mw-references-wrap mw-references-columns"><ol class="references"> <li id="cite_note-1"><span class="mw-cite-backlink"><b><a href="#cite_ref-1">^</a></b></span> <span class="reference-text"><style data-mw-deduplicate="TemplateStyles:r1238218222">.mw-parser-output cite.citation{font-style:inherit;word-wrap:break-word}.mw-parser-output .citation q{quotes:"\"""\"""'""'"}.mw-parser-output .citation:target{background-color:rgba(0,127,255,0.133)}.mw-parser-output .id-lock-free.id-lock-free a{background:url("//upload.wikimedia.org/wikipedia/commons/6/65/Lock-green.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-limited.id-lock-limited a,.mw-parser-output .id-lock-registration.id-lock-registration a{background:url("//upload.wikimedia.org/wikipedia/commons/d/d6/Lock-gray-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-subscription.id-lock-subscription a{background:url("//upload.wikimedia.org/wikipedia/commons/a/aa/Lock-red-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .cs1-ws-icon a{background:url("//upload.wikimedia.org/wikipedia/commons/4/4c/Wikisource-logo.svg")right 0.1em center/12px no-repeat}body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-free a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-limited a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-registration a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-subscription a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .cs1-ws-icon a{background-size:contain;padding:0 1em 0 0}.mw-parser-output .cs1-code{color:inherit;background:inherit;border:none;padding:inherit}.mw-parser-output .cs1-hidden-error{display:none;color:var(--color-error,#d33)}.mw-parser-output .cs1-visible-error{color:var(--color-error,#d33)}.mw-parser-output .cs1-maint{display:none;color:#085;margin-left:0.3em}.mw-parser-output .cs1-kern-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right{padding-right:0.2em}.mw-parser-output .citation .mw-selflink{font-weight:inherit}@media screen{.mw-parser-output .cs1-format{font-size:95%}html.skin-theme-clientpref-night .mw-parser-output .cs1-maint{color:#18911f}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .cs1-maint{color:#18911f}}</style><cite id="CITEREFGuilfordArabBlanchardLevilliers1994" class="citation journal cs1">Guilford, Parry; 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(1993). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/NBK1272/">"Nonsyndromic Hearing Loss and Deafness, DFNB1"</a>. <i>GeneReviews</i>. University of Washington, Seattle. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/20301449">20301449</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=bookitem&rft.atitle=Nonsyndromic+Hearing+Loss+and+Deafness%2C+DFNB1&rft.btitle=GeneReviews&rft.pub=University+of+Washington%2C+Seattle&rft.date=1993&rft_id=info%3Apmid%2F20301449&rft.aulast=Smith&rft.aufirst=Richard+JH&rft.au=Jones%2C+Mary-Kayt+N.&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fbooks%2FNBK1272%2F&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANonsyndromic+deafness" class="Z3988"></span></span> </li> </ol></div></div> <div class="mw-heading mw-heading2"><h2 id="Further_reading">Further reading</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Nonsyndromic_deafness&action=edit&section=8" title="Edit section: Further reading"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1239549316">.mw-parser-output .refbegin{margin-bottom:0.5em}.mw-parser-output .refbegin-hanging-indents>ul{margin-left:0}.mw-parser-output .refbegin-hanging-indents>ul>li{margin-left:0;padding-left:3.2em;text-indent:-3.2em}.mw-parser-output .refbegin-hanging-indents ul,.mw-parser-output .refbegin-hanging-indents ul li{list-style:none}@media(max-width:720px){.mw-parser-output .refbegin-hanging-indents>ul>li{padding-left:1.6em;text-indent:-1.6em}}.mw-parser-output .refbegin-columns{margin-top:0.3em}.mw-parser-output .refbegin-columns ul{margin-top:0}.mw-parser-output .refbegin-columns li{page-break-inside:avoid;break-inside:avoid-column}@media screen{.mw-parser-output .refbegin{font-size:90%}}</style><div class="refbegin" style=""> <ul><li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFPandya2011" class="citation book cs1">Pandya, Arti (21 April 2011). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/NBK1422/"><i>Nonsyndromic Hearing Loss and Deafness, Mitochondrial</i></a>. University of Washington, Seattle. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/20301595">20301595</a>. NBK1422.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=book&rft.btitle=Nonsyndromic+Hearing+Loss+and+Deafness%2C+Mitochondrial&rft.pub=University+of+Washington%2C+Seattle&rft.date=2011-04-21&rft_id=info%3Apmid%2F20301595&rft.aulast=Pandya&rft.aufirst=Arti&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fbooks%2FNBK1422%2F&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANonsyndromic+deafness" class="Z3988"></span> In <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFGeneReviews" class="citation book cs1">Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A (1993). Pagon RA, Bird TD, Dolan CR, et al. (eds.). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/n/gene/TOC/"><i>GeneReviews</i></a>. Seattle WA: University of Washington, Seattle. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/20301295">20301295</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=book&rft.btitle=GeneReviews&rft.place=Seattle+WA&rft.pub=University+of+Washington%2C+Seattle&rft.date=1993&rft_id=info%3Apmid%2F20301295&rft.aulast=Adam&rft.aufirst=M.+P.&rft.au=Mirzaa%2C+G.+M.&rft.au=Pagon%2C+R.+A.&rft.au=Wallace%2C+S.+E.&rft.au=Bean+LJH&rft.au=Gripp%2C+K.+W.&rft.au=Amemiya%2C+A.&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fbooks%2Fn%2Fgene%2FTOC%2F&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANonsyndromic+deafness" class="Z3988"></span></li> <li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFSmithSheffieldCamp2012" class="citation book cs1">Smith, Richard JH; Sheffield, Abraham M; Camp, Guy Van (19 April 2012). "Nonsyndromic Hearing Loss and Deafness, DFNA3 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY". <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/NBK1536/"><i>Nonsyndromic Hearing Loss and Deafness, DFNA3</i></a>. University of Washington, Seattle. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/20301708">20301708</a>. NBK1536.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=bookitem&rft.atitle=Nonsyndromic+Hearing+Loss+and+Deafness%2C+DFNA3+%E2%80%93+RETIRED+CHAPTER%2C+FOR+HISTORICAL+REFERENCE+ONLY&rft.btitle=Nonsyndromic+Hearing+Loss+and+Deafness%2C+DFNA3&rft.pub=University+of+Washington%2C+Seattle&rft.date=2012-04-19&rft_id=info%3Apmid%2F20301708&rft.aulast=Smith&rft.aufirst=Richard+JH&rft.au=Sheffield%2C+Abraham+M&rft.au=Camp%2C+Guy+Van&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fbooks%2FNBK1536%2F&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANonsyndromic+deafness" class="Z3988"></span> In <a href="#CITEREFGeneReviews">GeneReviews</a></li> <li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFSmithCamp2014" class="citation book cs1">Smith, Richard JH; Camp, Guy Van (2 January 2014). "GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss". <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/NBK1272/"><i>Nonsyndromic Hearing Loss and Deafness, DFNB1</i></a>. University of Washington, Seattle. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/20301449">20301449</a>. NBK1272.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=bookitem&rft.atitle=GJB2-Related+Autosomal+Recessive+Nonsyndromic+Hearing+Loss&rft.btitle=Nonsyndromic+Hearing+Loss+and+Deafness%2C+DFNB1&rft.pub=University+of+Washington%2C+Seattle&rft.date=2014-01-02&rft_id=info%3Apmid%2F20301449&rft.aulast=Smith&rft.aufirst=Richard+JH&rft.au=Camp%2C+Guy+Van&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fbooks%2FNBK1272%2F&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANonsyndromic+deafness" class="Z3988"></span> In <a href="#CITEREFGeneReviews">GeneReviews</a></li> <li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFHuijun_YuanXue_Z_Liu2011" class="citation book cs1">Huijun Yuan; Xue Z Liu (4 August 2011). "DFNX1 Nonsyndromic Hearing Loss and Deafness – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY". <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/NBK57098/"><i>DFNX1 Nonsyndromic Hearing Loss and Deafness</i></a>. University of Washington, Seattle. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/21834172">21834172</a>. NBK57098.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=bookitem&rft.atitle=DFNX1+Nonsyndromic+Hearing+Loss+and+Deafness+%E2%80%93+RETIRED+CHAPTER%2C+FOR+HISTORICAL+REFERENCE+ONLY&rft.btitle=DFNX1+Nonsyndromic+Hearing+Loss+and+Deafness&rft.pub=University+of+Washington%2C+Seattle&rft.date=2011-08-04&rft_id=info%3Apmid%2F21834172&rft.au=Huijun+Yuan&rft.au=Xue+Z+Liu&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fbooks%2FNBK57098%2F&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANonsyndromic+deafness" class="Z3988"></span> In <a href="#CITEREFGeneReviews">GeneReviews</a></li> <li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFSmithGurrola,_IIKelley2011" class="citation book cs1">Smith, Richard JH; Gurrola, II, Jose G; Kelley, Philip M (14 June 2011). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/NBK1251/">"OTOF-Related Deafness"</a>. <i><span></span></i>OTOF<i>-Related Deafness</i>. University of Washington, Seattle. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/20301429">20301429</a>. NBK1251.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=bookitem&rft.atitle=OTOF-Related+Deafness&rft.btitle=OTOF-Related+Deafness&rft.pub=University+of+Washington%2C+Seattle&rft.date=2011-06-14&rft_id=info%3Apmid%2F20301429&rft.aulast=Smith&rft.aufirst=Richard+JH&rft.au=Gurrola%2C+II%2C+Jose+G&rft.au=Kelley%2C+Philip+M&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fbooks%2FNBK1251%2F&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANonsyndromic+deafness" class="Z3988"></span> In <a href="#CITEREFGeneReviews">GeneReviews</a></li></ul> </div> <div class="mw-heading mw-heading2"><h2 id="External_links">External links</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Nonsyndromic_deafness&action=edit&section=9" title="Edit section: External links"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="navbox-styles"><style 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· ";font-weight:bold}.mw-parser-output .hlist dd:last-child::after,.mw-parser-output .hlist dt:last-child::after,.mw-parser-output .hlist li:last-child::after{content:none}.mw-parser-output .hlist dd dd:first-child::before,.mw-parser-output .hlist dd dt:first-child::before,.mw-parser-output .hlist dd li:first-child::before,.mw-parser-output .hlist dt dd:first-child::before,.mw-parser-output .hlist dt dt:first-child::before,.mw-parser-output .hlist dt li:first-child::before,.mw-parser-output .hlist li dd:first-child::before,.mw-parser-output .hlist li dt:first-child::before,.mw-parser-output .hlist li li:first-child::before{content:" (";font-weight:normal}.mw-parser-output .hlist dd dd:last-child::after,.mw-parser-output .hlist dd dt:last-child::after,.mw-parser-output .hlist dd li:last-child::after,.mw-parser-output .hlist dt dd:last-child::after,.mw-parser-output .hlist dt dt:last-child::after,.mw-parser-output .hlist dt li:last-child::after,.mw-parser-output .hlist li dd:last-child::after,.mw-parser-output .hlist li dt:last-child::after,.mw-parser-output .hlist li li:last-child::after{content:")";font-weight:normal}.mw-parser-output .hlist ol{counter-reset:listitem}.mw-parser-output .hlist ol>li{counter-increment:listitem}.mw-parser-output .hlist ol>li::before{content:" "counter(listitem)"\a0 "}.mw-parser-output .hlist dd ol>li:first-child::before,.mw-parser-output .hlist dt ol>li:first-child::before,.mw-parser-output .hlist li ol>li:first-child::before{content:" ("counter(listitem)"\a0 "}</style><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"></div><div role="navigation" class="navbox" aria-label="Navbox" style="width:100%; margin:0.5em 0 0.5em 0;;padding:3px"><table class="nowraplinks navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">Classification</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"><div style="position:relative; float:right; font-size:0.8em;"><a href="https://www.wikidata.org/wiki/Q9079046" class="extiw" title="d:Q9079046">D</a></div><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/ICD-10" title="ICD-10">10</a></b>: H90.5</li><li><b><a href="/wiki/Medical_Subject_Headings" title="Medical Subject Headings">MeSH</a></b>: <a rel="nofollow" class="external text" href="https://meshb.nlm.nih.gov/record/ui?ui=C580334">C580334</a></li></ul></div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">External resources</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/Orphanet" title="Orphanet">Orphanet</a></b>: <a rel="nofollow" class="external text" href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87884">87884</a></li></ul></div></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Disorders_of_hearing_and_balance" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><style data-mw-deduplicate="TemplateStyles:r1239400231">.mw-parser-output .navbar{display:inline;font-size:88%;font-weight:normal}.mw-parser-output .navbar-collapse{float:left;text-align:left}.mw-parser-output .navbar-boxtext{word-spacing:0}.mw-parser-output .navbar ul{display:inline-block;white-space:nowrap;line-height:inherit}.mw-parser-output .navbar-brackets::before{margin-right:-0.125em;content:"[ "}.mw-parser-output .navbar-brackets::after{margin-left:-0.125em;content:" ]"}.mw-parser-output .navbar li{word-spacing:-0.125em}.mw-parser-output .navbar a>span,.mw-parser-output .navbar a>abbr{text-decoration:inherit}.mw-parser-output .navbar-mini abbr{font-variant:small-caps;border-bottom:none;text-decoration:none;cursor:inherit}.mw-parser-output .navbar-ct-full{font-size:114%;margin:0 7em}.mw-parser-output .navbar-ct-mini{font-size:114%;margin:0 4em}html.skin-theme-clientpref-night .mw-parser-output .navbar li a abbr{color:var(--color-base)!important}@media(prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .navbar li a abbr{color:var(--color-base)!important}}@media print{.mw-parser-output .navbar{display:none!important}}</style><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Hearing_and_balance" title="Template:Hearing and balance"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Hearing_and_balance" title="Template talk:Hearing and balance"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Hearing_and_balance" title="Special:EditPage/Template:Hearing and balance"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Disorders_of_hearing_and_balance" style="font-size:114%;margin:0 4em">Disorders of <a href="/wiki/Hearing" title="Hearing">hearing</a> and <a href="/wiki/Balance_(ability)" title="Balance (ability)">balance</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Hearing" title="Hearing">Hearing</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%">Symptoms</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Hearing_loss" title="Hearing loss">Hearing loss</a></li> <li>Excessive response <ul><li><a href="/wiki/Tinnitus" title="Tinnitus">Tinnitus</a></li> <li><a href="/wiki/Hyperacusis" title="Hyperacusis">Hyperacusis</a></li> <li><a href="/wiki/Phonophobia" title="Phonophobia">Phonophobia</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Disease</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th id="Loss" scope="row" class="navbox-group" style="width:1%">Loss</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Conductive_hearing_loss" title="Conductive hearing loss">Conductive hearing loss</a> <ul><li><a href="/wiki/Otosclerosis" title="Otosclerosis">Otosclerosis</a></li> <li><a href="/wiki/Superior_canal_dehiscence_syndrome" title="Superior canal dehiscence syndrome">Superior canal dehiscence</a></li></ul></li> <li><a href="/wiki/Sensorineural_hearing_loss" title="Sensorineural hearing loss">Sensorineural hearing loss</a> <ul><li><a href="/wiki/Presbycusis" title="Presbycusis">Presbycusis</a></li> <li><a href="/wiki/Cortical_deafness" title="Cortical deafness">Cortical deafness</a></li></ul></li> <li><a class="mw-selflink selflink">Nonsyndromic deafness</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Deafblindness" title="Deafblindness">Deafblindness</a> <ul><li><a href="/wiki/Wolfram_syndrome" title="Wolfram syndrome">Wolfram syndrome</a></li> <li><a href="/wiki/Usher_syndrome" title="Usher syndrome">Usher syndrome</a></li></ul></li> <li><a href="/wiki/Auditory_processing_disorder" title="Auditory processing disorder">Auditory processing disorder</a></li> <li><a href="/wiki/Spatial_hearing_loss" title="Spatial hearing loss">Spatial hearing loss</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Tests</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Hearing_test" title="Hearing test">Hearing test</a></li> <li><a href="/wiki/Rinne_test" title="Rinne test">Rinne test</a></li> <li><a href="/wiki/Tone_decay_test" title="Tone decay test">Tone decay test</a></li> <li><a href="/wiki/Weber_test" title="Weber test">Weber test</a></li> <li><a href="/wiki/Audiometry" title="Audiometry">Audiometry</a> <ul><li><a href="/wiki/Pure_tone_audiometry" class="mw-redirect" title="Pure tone audiometry">pure tone</a></li> <li><a href="/wiki/Visual_reinforcement_audiometry" title="Visual reinforcement audiometry">visual reinforcement</a></li></ul></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Balance_(ability)" title="Balance (ability)">Balance</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%">Symptoms</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Vertigo" title="Vertigo">Vertigo</a></li> <li><a href="/wiki/Nystagmus" title="Nystagmus">nystagmus</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Disease</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Balance_disorder" title="Balance disorder">Balance disorder</a></li> <li>Peripheral <ul><li><a href="/wiki/M%C3%A9ni%C3%A8re%27s_disease" title="Ménière's disease">Ménière's disease</a></li> <li><a href="/wiki/Benign_paroxysmal_positional_vertigo" title="Benign paroxysmal positional vertigo">Benign paroxysmal positional vertigo</a></li> <li><a href="/wiki/Labyrinthitis" title="Labyrinthitis">Labyrinthitis</a></li> <li><a href="/wiki/Labyrinthine_fistula" title="Labyrinthine fistula">Labyrinthine fistula</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Tests</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Dix%E2%80%93Hallpike_test" title="Dix–Hallpike test">Dix–Hallpike test</a></li> <li><a href="/wiki/Unterberger_test" title="Unterberger test">Unterberger test</a></li> <li><a href="/wiki/Romberg%27s_test" title="Romberg's test">Romberg's test</a></li> <li><a href="/wiki/Vestibulo%E2%80%93ocular_reflex" title="Vestibulo–ocular reflex">Vestibulo–ocular reflex</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Cytoskeletal_defects" style="padding:3px"><table class="nowraplinks hlist mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Cytoskeletal_defects" title="Template:Cytoskeletal defects"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Cytoskeletal_defects" title="Template talk:Cytoskeletal defects"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Cytoskeletal_defects" title="Special:EditPage/Template:Cytoskeletal defects"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Cytoskeletal_defects" style="font-size:114%;margin:0 4em"><a href="/wiki/Cytoskeleton" title="Cytoskeleton">Cytoskeletal</a> defects</div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Microfilament" title="Microfilament">Microfilaments</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Myofilament" title="Myofilament">Myofilament</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Actin" title="Actin">Actin</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Hypertrophic_cardiomyopathy" title="Hypertrophic cardiomyopathy">Hypertrophic cardiomyopathy 11</a></li> <li><a href="/wiki/Dilated_cardiomyopathy" title="Dilated cardiomyopathy">Dilated cardiomyopathy 1AA</a></li> <li><a class="mw-selflink selflink">DFNA20</a></li> <li><a href="/wiki/Nemaline_myopathy" title="Nemaline myopathy">Nemaline myopathy 3</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Myosin" title="Myosin">Myosin</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Elejalde_syndrome" title="Elejalde syndrome">Elejalde syndrome</a></li> <li><a href="/wiki/Hypertrophic_cardiomyopathy" title="Hypertrophic cardiomyopathy">Hypertrophic cardiomyopathy 1, 8, 10</a></li> <li><a href="/wiki/Usher_syndrome" title="Usher syndrome">Usher syndrome 1B</a></li> <li><a href="/wiki/Freeman%E2%80%93Sheldon_syndrome" title="Freeman–Sheldon syndrome">Freeman–Sheldon syndrome</a></li> <li><a class="mw-selflink selflink">DFN A3, 4, 11, 17, 22; B2, 30, 37, 48</a></li> <li><a href="/wiki/May%E2%80%93Hegglin_anomaly" title="May–Hegglin anomaly">May–Hegglin anomaly</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Troponin" title="Troponin">Troponin</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Hypertrophic_cardiomyopathy" title="Hypertrophic cardiomyopathy">Hypertrophic cardiomyopathy 7, 2</a></li> <li><a href="/wiki/Nemaline_myopathy" title="Nemaline myopathy">Nemaline myopathy 4, 5</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Tropomyosin" title="Tropomyosin">Tropomyosin</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Hypertrophic_cardiomyopathy" title="Hypertrophic cardiomyopathy">Hypertrophic cardiomyopathy 3</a></li> <li><a href="/wiki/Nemaline_myopathy" title="Nemaline myopathy">Nemaline myopathy 1</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Titin" title="Titin">Titin</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Hypertrophic_cardiomyopathy" title="Hypertrophic cardiomyopathy">Hypertrophic cardiomyopathy 9</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Fibrillin" title="Fibrillin">Fibrillin</a> <ul><li><a href="/wiki/Marfan_syndrome" title="Marfan syndrome">Marfan syndrome</a></li> <li><a href="/wiki/Weill%E2%80%93Marchesani_syndrome" title="Weill–Marchesani syndrome">Weill–Marchesani syndrome</a></li></ul></li> <li><a href="/wiki/Filamin" title="Filamin">Filamin</a> <ul><li><a href="/wiki/FG_syndrome" title="FG syndrome">FG syndrome 2</a></li> <li><a href="/wiki/Boomerang_dysplasia" title="Boomerang dysplasia">Boomerang dysplasia</a></li> <li><a href="/wiki/Larsen_syndrome" title="Larsen syndrome">Larsen syndrome</a></li> <li><a href="/wiki/Terminal_osseous_dysplasia_with_pigmentary_defects" title="Terminal osseous dysplasia with pigmentary defects">Terminal osseous dysplasia with pigmentary defects</a></li></ul></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Intermediate_filament" title="Intermediate filament">IF</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%">1/2</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Keratin_disease" title="Keratin disease">Keratinopathy</a> (<a href="/wiki/Keratosis" title="Keratosis">keratosis</a>, <a href="/wiki/Keratoderma" title="Keratoderma">keratoderma</a>, <a href="/wiki/Hyperkeratosis" title="Hyperkeratosis">hyperkeratosis</a>): <a href="/wiki/Keratin_1" title="Keratin 1">KRT1</a> <ul><li><a href="/wiki/Palmoplantar_keratoderma" title="Palmoplantar keratoderma">Striate palmoplantar keratoderma 3</a></li> <li><a href="/wiki/Epidermolytic_hyperkeratosis" title="Epidermolytic hyperkeratosis">Epidermolytic hyperkeratosis</a></li> <li><a href="/wiki/Ichthyosis_hystrix" title="Ichthyosis hystrix">IHCM</a></li></ul></li> <li><a href="/wiki/Keratin_2A" title="Keratin 2A">KRT2E</a> (<a href="/wiki/Ichthyosis_bullosa_of_Siemens" title="Ichthyosis bullosa of Siemens">Ichthyosis bullosa of Siemens</a>)</li> <li><a href="/wiki/Keratin_3" title="Keratin 3">KRT3</a> (<a href="/wiki/Meesmann_juvenile_epithelial_corneal_dystrophy" class="mw-redirect" title="Meesmann juvenile epithelial corneal dystrophy">Meesmann juvenile epithelial corneal dystrophy</a>)</li> <li><a href="/wiki/Keratin_4" title="Keratin 4">KRT4</a> (<a href="/wiki/White_sponge_nevus" title="White sponge nevus">White sponge nevus</a>)</li> <li><a href="/wiki/Keratin_5" title="Keratin 5">KRT5</a> (<a href="/wiki/Epidermolysis_bullosa_simplex" title="Epidermolysis bullosa simplex">Epidermolysis bullosa simplex</a>)</li> <li><a href="/wiki/Keratin_8" title="Keratin 8">KRT8</a> (<a href="/wiki/Familial_cirrhosis" title="Familial cirrhosis">Familial cirrhosis</a>)</li> <li><a href="/wiki/Keratin_10" title="Keratin 10">KRT10</a> (<a href="/wiki/Epidermolytic_hyperkeratosis" title="Epidermolytic hyperkeratosis">Epidermolytic hyperkeratosis</a>)</li> <li><a href="/wiki/Keratin_12" title="Keratin 12">KRT12</a> (<a href="/wiki/Meesmann_juvenile_epithelial_corneal_dystrophy" class="mw-redirect" title="Meesmann juvenile epithelial corneal dystrophy">Meesmann juvenile epithelial corneal dystrophy</a>)</li> <li><a href="/wiki/Keratin_13" title="Keratin 13">KRT13</a> (<a href="/wiki/White_sponge_nevus" title="White sponge nevus">White sponge nevus</a>)</li> <li><a href="/wiki/Keratin_14" title="Keratin 14">KRT14</a> (<a href="/wiki/Epidermolysis_bullosa_simplex" title="Epidermolysis bullosa simplex">Epidermolysis bullosa simplex</a>)</li> <li><a href="/wiki/Keratin_17" title="Keratin 17">KRT17</a> (<a href="/wiki/Steatocystoma_multiplex" title="Steatocystoma multiplex">Steatocystoma multiplex</a>)</li> <li><a href="/wiki/Keratin_18" title="Keratin 18">KRT18</a> (<a href="/wiki/Familial_cirrhosis" title="Familial cirrhosis">Familial cirrhosis</a>)</li> <li><a href="/wiki/KRT81" title="KRT81">KRT81</a>/<a href="/wiki/KRT83" title="KRT83">KRT83</a>/<a href="/wiki/KRT86" title="KRT86">KRT86</a> (<a href="/wiki/Monilethrix" title="Monilethrix">Monilethrix</a>)</li> <li><a href="/wiki/Naegeli%E2%80%93Franceschetti%E2%80%93Jadassohn_syndrome" title="Naegeli–Franceschetti–Jadassohn syndrome">Naegeli–Franceschetti–Jadassohn syndrome</a></li> <li><a href="/wiki/Reticular_pigmented_anomaly_of_the_flexures" title="Reticular pigmented anomaly of the flexures">Reticular pigmented anomaly of the flexures</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">3</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Desmin" title="Desmin">Desmin</a>: <a href="/wiki/Desmin-related_myofibrillar_myopathy" title="Desmin-related myofibrillar myopathy">Desmin-related myofibrillar myopathy</a></li> <li><a href="/wiki/Dilated_cardiomyopathy" title="Dilated cardiomyopathy">Dilated cardiomyopathy 1I</a></li></ul> <ul><li><a href="/wiki/Glial_fibrillary_acidic_protein" title="Glial fibrillary acidic protein">GFAP</a>: <a href="/wiki/Alexander_disease" title="Alexander disease">Alexander disease</a></li></ul> <ul><li><a href="/wiki/Peripherin" title="Peripherin">Peripherin</a>: <a href="/wiki/Amyotrophic_lateral_sclerosis" class="mw-redirect" title="Amyotrophic lateral sclerosis">Amyotrophic lateral sclerosis</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">4</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Neurofilament" title="Neurofilament">Neurofilament</a>: <a href="/wiki/Parkinson%27s_disease" title="Parkinson's disease">Parkinson's disease</a></li> <li><a href="/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease" title="Charcot–Marie–Tooth disease">Charcot–Marie–Tooth disease 1F, 2E</a></li> <li><a href="/wiki/Amyotrophic_lateral_sclerosis" class="mw-redirect" title="Amyotrophic lateral sclerosis">Amyotrophic lateral sclerosis</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">5</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Laminopathy" title="Laminopathy">Laminopathy</a>: LMNA <ul><li><a href="/wiki/Mandibuloacral_dysplasia" title="Mandibuloacral dysplasia">Mandibuloacral dysplasia</a></li> <li><a href="/wiki/Dunnigan_familial_partial_lipodystrophy" title="Dunnigan familial partial lipodystrophy">Dunnigan</a> <a href="/wiki/Familial_partial_lipodystrophy" title="Familial partial lipodystrophy">Familial partial lipodystrophy</a></li> <li><a href="/wiki/Emery%E2%80%93Dreifuss_muscular_dystrophy_2" class="mw-redirect" title="Emery–Dreifuss muscular dystrophy 2">Emery–Dreifuss muscular dystrophy 2</a></li> <li><a href="/wiki/Limb-girdle_muscular_dystrophy" class="mw-redirect" title="Limb-girdle muscular dystrophy">Limb-girdle muscular dystrophy 1B</a></li> <li><a href="/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease_2B1" class="mw-redirect" title="Charcot–Marie–Tooth disease 2B1">Charcot–Marie–Tooth disease 2B1</a></li></ul></li> <li>LMNB <ul><li><a href="/wiki/Barraquer%E2%80%93Simons_syndrome" title="Barraquer–Simons syndrome">Barraquer–Simons syndrome</a></li></ul></li> <li>LEMD3 <ul><li><a href="/wiki/Buschke%E2%80%93Ollendorff_syndrome" title="Buschke–Ollendorff syndrome">Buschke–Ollendorff syndrome</a></li> <li><a href="/wiki/Osteopoikilosis" title="Osteopoikilosis">Osteopoikilosis</a></li></ul></li> <li>LBR <ul><li><a href="/wiki/Pelger%E2%80%93Huet_anomaly" class="mw-redirect" title="Pelger–Huet anomaly">Pelger–Huet anomaly</a></li> <li><a href="/wiki/Hydrops-ectopic_calcification-moth-eaten_skeletal_dysplasia" title="Hydrops-ectopic calcification-moth-eaten skeletal dysplasia">Hydrops-ectopic calcification-moth-eaten skeletal dysplasia</a></li></ul></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Microtubule" title="Microtubule">Microtubules</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Kinesin" title="Kinesin">Kinesin</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease" title="Charcot–Marie–Tooth disease">Charcot–Marie–Tooth disease 2A</a></li> <li><a href="/wiki/Hereditary_spastic_paraplegia" title="Hereditary spastic paraplegia">Hereditary spastic paraplegia 10</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Dynein" title="Dynein">Dynein</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Primary_ciliary_dyskinesia" title="Primary ciliary dyskinesia">Primary ciliary dyskinesia</a></li> <li><a href="/wiki/Short_rib-polydactyly_syndrome_3" class="mw-redirect" title="Short rib-polydactyly syndrome 3">Short rib-polydactyly syndrome 3</a></li> <li><a href="/wiki/Asphyxiating_thoracic_dysplasia_3" class="mw-redirect" title="Asphyxiating thoracic dysplasia 3">Asphyxiating thoracic dysplasia 3</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Tauopathy" title="Tauopathy">Tauopathy</a></li> <li><a href="/wiki/Cavernous_venous_malformation" class="mw-redirect" title="Cavernous venous malformation">Cavernous venous malformation</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Membrane_protein" title="Membrane protein">Membrane</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Spectrin" title="Spectrin">Spectrin</a>: <a href="/wiki/Spinocerebellar_ataxia_5" class="mw-redirect" title="Spinocerebellar ataxia 5">Spinocerebellar ataxia 5</a></li> <li><a href="/wiki/Hereditary_spherocytosis_2,_3" class="mw-redirect" title="Hereditary spherocytosis 2, 3">Hereditary spherocytosis 2, 3</a></li> <li><a href="/wiki/Hereditary_elliptocytosis_2,_3" class="mw-redirect" title="Hereditary elliptocytosis 2, 3">Hereditary elliptocytosis 2, 3</a></li></ul> <p><a href="/wiki/Ankyrin" title="Ankyrin">Ankyrin</a>: <a href="/wiki/Long_QT_syndrome_4" class="mw-redirect" title="Long QT syndrome 4">Long QT syndrome 4</a> </p> <ul><li><a href="/wiki/Hereditary_spherocytosis_1" class="mw-redirect" title="Hereditary spherocytosis 1">Hereditary spherocytosis 1</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Catenin" title="Catenin">Catenin</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Adenomatous_polyposis_coli" title="Adenomatous polyposis coli">APC</a></i> <ul><li><a href="/wiki/Gardner%27s_syndrome" title="Gardner's syndrome">Gardner's syndrome</a></li> <li><a href="/wiki/Familial_adenomatous_polyposis" title="Familial adenomatous polyposis">Familial adenomatous polyposis</a></li></ul></li> <li><i><a href="/wiki/Plakoglobin" title="Plakoglobin">plakoglobin</a></i> (<a href="/wiki/Naxos_syndrome" title="Naxos syndrome">Naxos syndrome</a>)</li> <li><i><a href="/wiki/Gigaxonin" title="Gigaxonin">GAN</a></i> (<a href="/wiki/Giant_axonal_neuropathy" title="Giant axonal neuropathy">Giant axonal neuropathy</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Desmoplakin" title="Desmoplakin">desmoplakin</a>: <a href="/wiki/Palmoplantar_keratoderma" title="Palmoplantar keratoderma">Striate palmoplantar keratoderma 2</a></li> <li><a href="/wiki/Palmoplantar_keratoderma" title="Palmoplantar keratoderma">Carvajal syndrome</a></li> <li><a href="/wiki/Arrhythmogenic_right_ventricular_dysplasia" class="mw-redirect" title="Arrhythmogenic right ventricular dysplasia">Arrhythmogenic right ventricular dysplasia 8</a></li></ul> <ul><li><a href="/wiki/Plectin" title="Plectin">plectin</a>: <a href="/wiki/Epidermolysis_bullosa_simplex_with_muscular_dystrophy" class="mw-redirect" title="Epidermolysis bullosa simplex with muscular dystrophy">Epidermolysis bullosa simplex with muscular dystrophy</a></li> <li><a href="/wiki/Epidermolysis_bullosa_simplex_of_Ogna" class="mw-redirect" title="Epidermolysis bullosa simplex of Ogna">Epidermolysis bullosa simplex of Ogna</a></li></ul> <ul><li><a href="/wiki/Plakophilin" title="Plakophilin">plakophilin</a>: <a href="/wiki/Skin_fragility_syndrome" title="Skin fragility syndrome">Skin fragility syndrome</a></li> <li><a href="/wiki/Arrhythmogenic_right_ventricular_dysplasia" class="mw-redirect" title="Arrhythmogenic right ventricular dysplasia">Arrhythmogenic right ventricular dysplasia 9</a></li></ul> <ul><li><a href="/wiki/Centrosome" title="Centrosome">centrosome</a>: <i><a href="/wiki/PCNT" title="PCNT">PCNT</a></i> (<a href="/wiki/Microcephalic_osteodysplastic_primordial_dwarfism_type_II" title="Microcephalic osteodysplastic primordial dwarfism type II">Microcephalic osteodysplastic primordial dwarfism type II</a>)</li></ul> </div></td></tr><tr><td class="navbox-abovebelow" colspan="2"><div><i>Related topics: <a href="/wiki/Template:Cytoskeletal_proteins" title="Template:Cytoskeletal proteins">Cytoskeletal proteins</a></i></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Genetic_disorders_relating_to_deficiencies_of_transcription_factor_or_coregulators" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Transcription_factor_and_coregulator_deficiencies" title="Template:Transcription factor and coregulator deficiencies"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Transcription_factor_and_coregulator_deficiencies" title="Template talk:Transcription factor and coregulator deficiencies"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Transcription_factor_and_coregulator_deficiencies" title="Special:EditPage/Template:Transcription factor and coregulator deficiencies"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Genetic_disorders_relating_to_deficiencies_of_transcription_factor_or_coregulators" style="font-size:114%;margin:0 4em"><a href="/wiki/Genetic_disorder" title="Genetic disorder">Genetic disorders</a> relating to deficiencies of <a href="/wiki/Transcription_factor" title="Transcription factor">transcription factor</a> or coregulators</div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%">(1) Basic domains</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%">1.2</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Feingold_syndrome" title="Feingold syndrome">Feingold syndrome</a></li> <li><a href="/wiki/Saethre%E2%80%93Chotzen_syndrome" title="Saethre–Chotzen syndrome">Saethre–Chotzen syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">1.3</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Tietz_syndrome" title="Tietz syndrome">Tietz syndrome</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">(2) Zinc finger<br />DNA-binding domains</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%">2.1</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li>(<a href="/wiki/Intracellular_receptor" title="Intracellular receptor">Intracellular receptor</a>): <a href="/wiki/Thyroid_hormone_resistance" title="Thyroid hormone resistance">Thyroid hormone resistance</a></li> <li><a href="/wiki/Androgen_insensitivity_syndrome" title="Androgen insensitivity syndrome">Androgen insensitivity syndrome</a> <ul><li><a href="/wiki/Partial_androgen_insensitivity_syndrome" title="Partial androgen insensitivity syndrome">PAIS</a></li> <li><a href="/wiki/Mild_androgen_insensitivity_syndrome" title="Mild androgen insensitivity syndrome">MAIS</a></li> <li><a href="/wiki/Complete_androgen_insensitivity_syndrome" title="Complete androgen insensitivity syndrome">CAIS</a></li></ul></li> <li><a href="/wiki/Spinal_and_bulbar_muscular_atrophy" title="Spinal and bulbar muscular atrophy">Kennedy's disease</a></li> <li><a href="/wiki/Pseudohypoaldosteronism" title="Pseudohypoaldosteronism">PHA1AD pseudohypoaldosteronism</a></li> <li><a href="/wiki/Estrogen_insensitivity_syndrome" title="Estrogen insensitivity syndrome">Estrogen insensitivity syndrome</a></li> <li><a href="/wiki/X-linked_adrenal_hypoplasia_congenita" title="X-linked adrenal hypoplasia congenita">X-linked adrenal hypoplasia congenita</a></li> <li><a href="/wiki/MODY_1" title="MODY 1">MODY 1</a></li> <li><a href="/wiki/Familial_partial_lipodystrophy" title="Familial partial lipodystrophy">Familial partial lipodystrophy 3</a></li> <li><a href="/wiki/XY_gonadal_dysgenesis" title="XY gonadal dysgenesis">SF1 XY gonadal dysgenesis</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">2.2</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Barakat_syndrome" title="Barakat syndrome">Barakat syndrome</a></li> <li><a href="/wiki/Tricho%E2%80%93rhino%E2%80%93phalangeal_syndrome" class="mw-redirect" title="Tricho–rhino–phalangeal syndrome">Tricho–rhino–phalangeal syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">2.3</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Greig_cephalopolysyndactyly_syndrome" title="Greig cephalopolysyndactyly syndrome">Greig cephalopolysyndactyly syndrome</a>/<a href="/wiki/Pallister%E2%80%93Hall_syndrome" title="Pallister–Hall syndrome">Pallister–Hall syndrome</a></li> <li><a href="/wiki/Denys%E2%80%93Drash_syndrome" title="Denys–Drash syndrome">Denys–Drash syndrome</a></li> <li><a href="/wiki/Duane-radial_ray_syndrome" title="Duane-radial ray syndrome">Duane-radial ray syndrome</a></li> <li><a href="/wiki/Maturity_onset_diabetes_of_the_young" class="mw-redirect" title="Maturity onset diabetes of the young">MODY 7</a></li> <li><a href="/wiki/X-linked_intellectual_disability" title="X-linked intellectual disability">MRX 89</a></li> <li><a href="/wiki/Townes%E2%80%93Brocks_syndrome" title="Townes–Brocks syndrome">Townes–Brocks syndrome</a></li> <li><a href="/wiki/Acrocallosal_syndrome" title="Acrocallosal syndrome">Acrocallosal syndrome</a></li> <li><a href="/wiki/Myotonic_dystrophy" title="Myotonic dystrophy">Myotonic dystrophy 2</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">2.5</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Autoimmune_polyendocrine_syndrome_type_1" title="Autoimmune polyendocrine syndrome type 1">Autoimmune polyendocrine syndrome type 1</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">(3) Helix-turn-helix domains</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%">3.1</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Aristaless_related_homeobox" title="Aristaless related homeobox">ARX</a></i> <ul><li><a href="/wiki/Ohtahara_syndrome" title="Ohtahara syndrome">Ohtahara syndrome</a></li> <li><a href="/wiki/Lissencephaly" title="Lissencephaly">Lissencephaly X2</a></li></ul></li> <li><i><a href="/wiki/MNX1" title="MNX1">MNX1</a></i> <ul><li><a href="/wiki/Currarino_syndrome" title="Currarino syndrome">Currarino syndrome</a></li></ul></li> <li><i><a href="/wiki/HOXD13" title="HOXD13">HOXD13</a></i> <ul><li><a href="/wiki/Synpolydactyly" title="Synpolydactyly">SPD1 synpolydactyly</a></li></ul></li> <li><i><a href="/wiki/PDX1" title="PDX1">PDX1</a></i> <ul><li><a href="/wiki/MODY_4" title="MODY 4">MODY 4</a></li></ul></li> <li><i><a href="/wiki/LMX1B" title="LMX1B">LMX1B</a></i> <ul><li><a href="/wiki/Nail%E2%80%93patella_syndrome" title="Nail–patella syndrome">Nail–patella syndrome</a></li></ul></li> <li><i><a href="/wiki/MSX1" class="mw-redirect" title="MSX1">MSX1</a></i> <ul><li><a href="/wiki/Tooth_and_nail_syndrome" title="Tooth and nail syndrome">Tooth and nail syndrome</a></li> <li><a href="/wiki/Cleft_lip_and_palate" class="mw-redirect" title="Cleft lip and palate">OFC5</a></li></ul></li> <li><i><a href="/wiki/PITX2" title="PITX2">PITX2</a></i> <ul><li><a href="/wiki/Axenfeld%E2%80%93Rieger_syndrome" title="Axenfeld–Rieger syndrome">Axenfeld syndrome 1</a></li></ul></li> <li><i><a href="/wiki/POU4F3" title="POU4F3">POU4F3</a></i> <ul><li><a class="mw-selflink selflink">DFNA15</a></li></ul></li> <li><i><a href="/wiki/POU3F4" title="POU3F4">POU3F4</a></i> <ul><li><a class="mw-selflink selflink">DFNX2</a></li></ul></li> <li><i><a href="/wiki/ZEB1" title="ZEB1">ZEB1</a></i> <ul><li><a href="/wiki/Posterior_polymorphous_corneal_dystrophy" title="Posterior polymorphous corneal dystrophy">Posterior polymorphous corneal dystrophy</a></li> <li><a href="/wiki/Fuchs%27_dystrophy" title="Fuchs' dystrophy">Fuchs' dystrophy 3</a></li></ul></li> <li><i><a href="/wiki/ZEB2" title="ZEB2">ZEB2</a></i> <ul><li><a href="/wiki/Mowat%E2%80%93Wilson_syndrome" title="Mowat–Wilson syndrome">Mowat–Wilson syndrome</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">3.2</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/PAX2" title="PAX2">PAX2</a></i> <ul><li><a href="/wiki/Papillorenal_syndrome" title="Papillorenal syndrome">Papillorenal syndrome</a></li></ul></li> <li><i><a href="/wiki/PAX3" title="PAX3">PAX3</a></i> <ul><li><a href="/wiki/Waardenburg_syndrome" title="Waardenburg syndrome">Waardenburg syndrome 1&3</a></li></ul></li> <li><i><a href="/wiki/PAX4" title="PAX4">PAX4</a></i> <ul><li><a href="/wiki/Maturity_onset_diabetes_of_the_young" class="mw-redirect" title="Maturity onset diabetes of the young">MODY 9</a></li></ul></li> <li><i><a href="/wiki/PAX6" title="PAX6">PAX6</a></i> <ul><li><a href="/wiki/Gillespie_syndrome" title="Gillespie syndrome">Gillespie syndrome</a></li> <li><a href="/wiki/Coloboma_of_optic_nerve" title="Coloboma of optic nerve">Coloboma of optic nerve</a></li></ul></li> <li><i><a href="/wiki/PAX8" title="PAX8">PAX8</a></i> <ul><li><a href="/wiki/Congenital_hypothyroidism" title="Congenital hypothyroidism">Congenital hypothyroidism 2</a></li></ul></li> <li><i><a href="/wiki/PAX9" title="PAX9">PAX9</a></i> <ul><li><a href="/wiki/Hypodontia" title="Hypodontia">STHAG3</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">3.3</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Forkhead_box_C1" title="Forkhead box C1">FOXC1</a></i> <ul><li><a href="/wiki/Axenfeld_syndrome" class="mw-redirect" title="Axenfeld syndrome">Axenfeld syndrome 3</a></li> <li><a href="/wiki/Iridogoniodysgenesis,_dominant_type" title="Iridogoniodysgenesis, dominant type">Iridogoniodysgenesis, dominant type</a></li></ul></li> <li><i><a href="/wiki/FOXC2" title="FOXC2">FOXC2</a></i> <ul><li><a href="/wiki/Lymphedema%E2%80%93distichiasis_syndrome" title="Lymphedema–distichiasis syndrome">Lymphedema–distichiasis syndrome</a></li></ul></li> <li><i><a href="/wiki/FOXE1" title="FOXE1">FOXE1</a></i> <ul><li><a href="/wiki/Bamforth%E2%80%93Lazarus_syndrome" title="Bamforth–Lazarus syndrome">Bamforth–Lazarus syndrome</a></li></ul></li> <li><i><a href="/wiki/FOXE3" title="FOXE3">FOXE3</a></i> <ul><li><a href="/wiki/Anterior_segment_mesenchymal_dysgenesis" title="Anterior segment mesenchymal dysgenesis">Anterior segment mesenchymal dysgenesis</a></li></ul></li> <li><i><a href="/wiki/FOXF1" title="FOXF1">FOXF1</a></i> <ul><li><a href="/wiki/Alveolar_capillary_dysplasia" title="Alveolar capillary dysplasia">ACD/MPV</a></li></ul></li> <li><i><a href="/wiki/FOXI1" title="FOXI1">FOXI1</a></i> <ul><li><a href="/wiki/Enlarged_vestibular_aqueduct" title="Enlarged vestibular aqueduct">Enlarged vestibular aqueduct</a></li></ul></li> <li><i><a href="/wiki/Forkhead_box_L2" class="mw-redirect" title="Forkhead box L2">FOXL2</a></i> <ul><li><a href="/wiki/Premature_ovarian_failure" class="mw-redirect" title="Premature ovarian failure">Premature ovarian failure 3</a></li></ul></li> <li><i><a href="/wiki/FOXP3" title="FOXP3">FOXP3</a></i> <ul><li><a href="/wiki/IPEX_syndrome" title="IPEX syndrome">IPEX</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">3.5</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/IRF6" title="IRF6">IRF6</a></i> <ul><li><a href="/wiki/Van_der_Woude_syndrome" title="Van der Woude syndrome">Van der Woude syndrome</a></li> <li><a href="/wiki/Popliteal_pterygium_syndrome" title="Popliteal pterygium syndrome">Popliteal pterygium syndrome</a></li></ul></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">(4) β-Scaffold factors<br />with minor groove contacts</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%">4.2</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Hyperimmunoglobulin_E_syndrome" title="Hyperimmunoglobulin E syndrome">Hyperimmunoglobulin E syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">4.3</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Holt%E2%80%93Oram_syndrome" title="Holt–Oram syndrome">Holt–Oram syndrome</a></li> <li><a href="/wiki/Li%E2%80%93Fraumeni_syndrome" title="Li–Fraumeni syndrome">Li–Fraumeni syndrome</a></li> <li><a href="/wiki/Ulnar%E2%80%93mammary_syndrome" title="Ulnar–mammary syndrome">Ulnar–mammary syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">4.7</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Campomelic_dysplasia" title="Campomelic dysplasia">Campomelic dysplasia</a></li> <li><a href="/wiki/MODY_3" title="MODY 3">MODY 3</a></li> <li><a href="/wiki/MODY_5" class="mw-redirect" title="MODY 5">MODY 5</a></li> <li><i><a href="/wiki/Steroidogenic_factor_1" title="Steroidogenic factor 1">SF1</a></i> <ul><li><a href="/wiki/XY_gonadal_dysgenesis" title="XY gonadal dysgenesis">SRY XY gonadal dysgenesis</a></li> <li><a href="/wiki/Premature_ovarian_failure" class="mw-redirect" title="Premature ovarian failure">Premature ovarian failure 7</a></li></ul></li> <li><i><a href="/wiki/SOX10" title="SOX10">SOX10</a></i> <ul><li><a href="/wiki/Waardenburg_syndrome" title="Waardenburg syndrome">Waardenburg syndrome 4c</a></li> <li><a href="/wiki/Yemenite_deaf-blind_hypopigmentation_syndrome" title="Yemenite deaf-blind hypopigmentation syndrome">Yemenite deaf-blind hypopigmentation syndrome</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">4.11</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Cleidocranial_dysostosis" title="Cleidocranial dysostosis">Cleidocranial dysostosis</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">(0) Other transcription factors</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th id="0.6" scope="row" class="navbox-group" style="width:1%">0.6</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Kabuki_syndrome" title="Kabuki syndrome">Kabuki syndrome</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Ungrouped</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/TCF4" title="TCF4">TCF4</a></i> <ul><li><a href="/wiki/Pitt%E2%80%93Hopkins_syndrome" title="Pitt–Hopkins syndrome">Pitt–Hopkins syndrome</a></li></ul></li> <li><i><a href="/wiki/ZFP57" title="ZFP57">ZFP57</a></i> <ul><li><a href="/wiki/Transient_neonatal_diabetes_mellitus" class="mw-redirect" title="Transient neonatal diabetes mellitus">TNDM1</a></li></ul></li> <li><i><a href="/wiki/TP63" title="TP63">TP63</a></i> <ul><li><a href="/wiki/Rapp%E2%80%93Hodgkin_syndrome" title="Rapp–Hodgkin syndrome">Rapp–Hodgkin syndrome</a>/<a href="/wiki/Hay%E2%80%93Wells_syndrome" title="Hay–Wells syndrome">Hay–Wells syndrome</a>/<a href="/wiki/Ectrodactyly%E2%80%93ectodermal_dysplasia%E2%80%93cleft_syndrome" title="Ectrodactyly–ectodermal dysplasia–cleft syndrome">Ectrodactyly–ectodermal dysplasia–cleft syndrome 3</a>/<a href="/wiki/Limb%E2%80%93mammary_syndrome" title="Limb–mammary syndrome">Limb–mammary syndrome</a>/<a href="/wiki/Cleft_lip_and_palate" class="mw-redirect" title="Cleft lip and palate">OFC8</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Transcription_coregulator" title="Transcription coregulator">Transcription coregulators</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%">Coactivator:</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/CREB-binding_protein" title="CREB-binding protein">CREBBP</a></i> <ul><li><a href="/wiki/Rubinstein%E2%80%93Taybi_syndrome" title="Rubinstein–Taybi syndrome">Rubinstein–Taybi syndrome</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Corepressor:</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/HR_(gene)" title="HR (gene)">HR</a></i> (<a href="/wiki/Atrichia_with_papular_lesions" title="Atrichia with papular lesions">Atrichia with papular lesions</a>)</li></ul> </div></td></tr></tbody></table><div></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Diseases_of_collagen,_laminin_and_other_scleroproteins" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Scleroprotein_disease" title="Template:Scleroprotein disease"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Scleroprotein_disease" title="Template talk:Scleroprotein disease"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Scleroprotein_disease" title="Special:EditPage/Template:Scleroprotein disease"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Diseases_of_collagen,_laminin_and_other_scleroproteins" style="font-size:114%;margin:0 4em">Diseases of <a href="/wiki/Collagen" title="Collagen">collagen</a>, <a href="/wiki/Laminin" title="Laminin">laminin</a> and other <a href="/wiki/Scleroprotein" class="mw-redirect" title="Scleroprotein">scleroproteins</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Collagen_disease" title="Collagen disease">Collagen disease</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/COL1" class="mw-redirect" title="COL1">COL1</a>:</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Osteogenesis_imperfecta" title="Osteogenesis imperfecta">Osteogenesis imperfecta</a><span class="nowrap"> </span><span style="font-size:85%;">(types I–IV)</span></li> <li><a href="/wiki/Ehlers%E2%80%93Danlos_syndrome" title="Ehlers–Danlos syndrome">Ehlers–Danlos syndrome</a><span class="nowrap"> </span><span style="font-size:85%;">(types 1, 2, & 7)</span></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Type-II_collagen" class="mw-redirect" title="Type-II collagen">COL2</a>:</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Hypochondrogenesis" title="Hypochondrogenesis">Hypochondrogenesis</a></li> <li><a href="/wiki/Achondrogenesis_type_2" title="Achondrogenesis type 2">Achondrogenesis<span class="nowrap"> </span><span style="font-size:85%;">(type 2)</span></a></li> <li><a href="/wiki/Stickler_syndrome" title="Stickler syndrome">Stickler syndrome</a></li> <li><a href="/wiki/Marshall_syndrome" title="Marshall syndrome">Marshall syndrome</a></li> <li><a href="/wiki/Spondyloepiphyseal_dysplasia_congenita" title="Spondyloepiphyseal dysplasia congenita">Spondyloepiphyseal dysplasia congenita</a></li> <li><a href="/wiki/Spondyloepimetaphyseal_dysplasia,_Strudwick_type" title="Spondyloepimetaphyseal dysplasia, Strudwick type">Spondyloepimetaphyseal dysplasia,<span class="nowrap"> </span><span style="font-size:85%;">(Strudwick type)</span></a></li> <li><a href="/wiki/Kniest_dysplasia" title="Kniest dysplasia">Kniest dysplasia</a> (<a href="/wiki/Type_II_collagenopathy" class="mw-redirect" title="Type II collagenopathy">Type II collagenopathy</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/COL3" class="mw-redirect" title="COL3">COL3</a>:</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Ehlers%E2%80%93Danlos_syndrome" title="Ehlers–Danlos syndrome">Ehlers–Danlos syndrome</a><span class="nowrap"> </span><span style="font-size:85%;">(types 3 & 4)</span></li> <li><a href="/wiki/Sack%E2%80%93Barabas_syndrome" title="Sack–Barabas syndrome">Sack–Barabas syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/COL4" class="mw-redirect" title="COL4">COL4</a>:</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Alport_syndrome" title="Alport syndrome">Alport syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/COL5" class="mw-redirect" title="COL5">COL5</a>:</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Ehlers%E2%80%93Danlos_syndrome" title="Ehlers–Danlos syndrome">Ehlers–Danlos syndrome</a><span class="nowrap"> </span><span style="font-size:85%;">(types 1 & 2)</span></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Collagen_VI" title="Collagen VI">COL6</a>:</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Bethlem_myopathy" title="Bethlem myopathy">Bethlem myopathy</a><span class="nowrap"> </span><span style="font-size:85%;">(type 1)</span></li> <li><a href="/wiki/Ullrich_congenital_muscular_dystrophy" title="Ullrich congenital muscular dystrophy">Ullrich congenital muscular dystrophy</a><span class="nowrap"> </span><span style="font-size:85%;">(type 1)</span></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/COL7" class="mw-redirect" title="COL7">COL7</a>:</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Epidermolysis_bullosa_dystrophica" title="Epidermolysis bullosa dystrophica">Epidermolysis bullosa dystrophica</a></li> <li><a href="/wiki/Recessive_dystrophic_epidermolysis_bullosa" class="mw-redirect" title="Recessive dystrophic epidermolysis bullosa">Recessive dystrophic epidermolysis bullosa</a></li> <li><a href="/wiki/Bart_syndrome" title="Bart syndrome">Bart syndrome</a></li> <li><a href="/wiki/Transient_bullous_dermolysis_of_the_newborn" title="Transient bullous dermolysis of the newborn">Transient bullous dermolysis of the newborn</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">COL8:</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Fuchs%27_dystrophy" title="Fuchs' dystrophy">Fuchs' dystrophy</a><span class="nowrap"> </span><span style="font-size:85%;">(type 1)</span></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">COL9:</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Multiple_epiphyseal_dysplasia" title="Multiple epiphyseal dysplasia">Multiple epiphyseal dysplasia</a><span class="nowrap"> </span><span style="font-size:85%;">(types 2, 3, & 6)</span></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">COL10:</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Schmid_metaphyseal_chondrodysplasia" class="mw-redirect" title="Schmid metaphyseal chondrodysplasia">Schmid metaphyseal chondrodysplasia</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">COL11:</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Weissenbacher%E2%80%93Zweym%C3%BCller_syndrome" title="Weissenbacher–Zweymüller syndrome">Weissenbacher–Zweymüller syndrome</a></li> <li><a href="/wiki/Otospondylomegaepiphyseal_dysplasia" title="Otospondylomegaepiphyseal dysplasia">Otospondylomegaepiphyseal dysplasia</a><span class="nowrap"> </span>(<a href="/wiki/Type_XI_collagenopathy" class="mw-redirect" title="Type XI collagenopathy">Type XI collagenopathy</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">COL12:</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Bethlem_myopathy" title="Bethlem myopathy">Bethlem myopathy</a><span class="nowrap"> </span><span style="font-size:85%;">(type 2)</span></li> <li><a href="/wiki/Ullrich_congenital_muscular_dystrophy" title="Ullrich congenital muscular dystrophy">Ullrich congenital muscular dystrophy</a><span class="nowrap"> </span><span style="font-size:85%;">(type 2)</span></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">COL17:</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Bullous_pemphigoid" title="Bullous pemphigoid">Bullous pemphigoid</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">COL18:</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Knobloch_syndrome" title="Knobloch syndrome">Knobloch syndrome</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Laminin" title="Laminin">Laminin</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Junctional_epidermolysis_bullosa_(medicine)" title="Junctional epidermolysis bullosa (medicine)">Junctional epidermolysis bullosa</a></li> <li><a href="/wiki/Laryngoonychocutaneous_syndrome" class="mw-redirect" title="Laryngoonychocutaneous syndrome">Laryngoonychocutaneous syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Congenital_stromal_corneal_dystrophy" title="Congenital stromal corneal dystrophy">Congenital stromal corneal dystrophy</a></li> <li><a href="/wiki/Raine_syndrome" title="Raine syndrome">Raine syndrome</a></li> <li><a href="/wiki/Urbach%E2%80%93Wiethe_disease" title="Urbach–Wiethe disease">Urbach–Wiethe disease</a></li> <li><i><a href="/wiki/TECTA" title="TECTA">TECTA</a></i> <ul><li><a href="/wiki/Genes_related_to_nonsyndromic_deafness" class="mw-redirect" title="Genes related to nonsyndromic deafness">DFNA8/12, DFNB21</a></li></ul></li></ul> </div></td></tr><tr><td class="navbox-abovebelow" colspan="2"><div><i>see also <a href="/wiki/Template:Fibrous_proteins" title="Template:Fibrous proteins">fibrous proteins</a></i></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Genetic_disorder,_membrane:_Solute_carrier_disorders" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Solute_carrier_disorders" title="Template:Solute carrier disorders"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Solute_carrier_disorders" title="Template talk:Solute carrier disorders"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Solute_carrier_disorders" title="Special:EditPage/Template:Solute carrier disorders"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Genetic_disorder,_membrane:_Solute_carrier_disorders" style="font-size:114%;margin:0 4em"><a href="/wiki/Genetic_disorder" title="Genetic disorder">Genetic disorder</a>, membrane: <a href="/wiki/Solute_carrier_family" title="Solute carrier family">Solute carrier</a> disorders</div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%">1-10</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Glutamate_aspartate_transporter" class="mw-redirect" title="Glutamate aspartate transporter">SLC1A3</a></i> <ul><li><a href="/wiki/Episodic_ataxia" title="Episodic ataxia">Episodic ataxia 6</a></li></ul></li> <li><i><a href="/wiki/SLC1A4" class="mw-redirect" title="SLC1A4">SLC1A4</a></i> <ul><li><a href="/wiki/SPATCCM" title="SPATCCM">SPATCCM</a></li></ul></li> <li><i><a href="/wiki/GLUT1" title="GLUT1">SLC2A1</a></i> <ul><li><a href="/wiki/De_Vivo_disease" class="mw-redirect" title="De Vivo disease">De Vivo disease</a></li></ul></li> <li><i><a href="/wiki/GLUT2" title="GLUT2">SLC2A2</a></i> <ul><li><a href="/wiki/Fanconi-Bickel_syndrome" class="mw-redirect" title="Fanconi-Bickel syndrome">Fanconi-Bickel syndrome</a></li></ul></li> <li><i><a href="/wiki/GLUT5" title="GLUT5">SLC2A5</a></i> <ul><li><a href="/wiki/Fructose_malabsorption" title="Fructose malabsorption">Fructose malabsorption</a></li></ul></li> <li><i><a href="/wiki/SLC2A10" title="SLC2A10">SLC2A10</a></i> <ul><li><a href="/wiki/Arterial_tortuosity_syndrome" title="Arterial tortuosity syndrome">Arterial tortuosity syndrome</a></li></ul></li> <li><i><a href="/wiki/SLC3A1" class="mw-redirect" title="SLC3A1">SLC3A1</a></i> <ul><li><a href="/wiki/Cystinuria" title="Cystinuria">Cystinuria</a></li></ul></li> <li><i><a href="/wiki/SLC4A1" class="mw-redirect" title="SLC4A1">SLC4A1</a></i> <ul><li><a href="/wiki/Hereditary_spherocytosis" title="Hereditary spherocytosis">Hereditary spherocytosis 4</a>/<a href="/wiki/Hereditary_elliptocytosis" title="Hereditary elliptocytosis">Hereditary elliptocytosis 4</a></li></ul></li> <li><i><a href="/wiki/SLC4A11" class="mw-redirect" title="SLC4A11">SLC4A11</a></i> <ul><li><a href="/wiki/Congenital_endothelial_dystrophy_type_2" class="mw-redirect" title="Congenital endothelial dystrophy type 2">Congenital endothelial dystrophy type 2</a></li> <li><a href="/wiki/Fuchs%27_dystrophy" title="Fuchs' dystrophy">Fuchs' dystrophy 4</a></li></ul></li> <li><i><a href="/wiki/SLC5A1" class="mw-redirect" title="SLC5A1">SLC5A1</a></i> <ul><li><a href="/wiki/Glucose-galactose_malabsorption" title="Glucose-galactose malabsorption">Glucose-galactose malabsorption</a></li></ul></li> <li><i><a href="/wiki/SLC5A2" class="mw-redirect" title="SLC5A2">SLC5A2</a></i> <ul><li><a href="/wiki/Renal_glycosuria" title="Renal glycosuria">Renal glycosuria</a></li></ul></li> <li><i><a href="/wiki/Sodium-iodide_symporter" class="mw-redirect" title="Sodium-iodide symporter">SLC5A5</a></i> <ul><li><a href="/wiki/Thyroid_dyshormonogenesis" title="Thyroid dyshormonogenesis">Thyroid dyshormonogenesis type 1</a></li></ul></li> <li><i><a href="/wiki/SLC6A19" class="mw-redirect" title="SLC6A19">SLC6A19</a></i> <ul><li><a href="/wiki/Hartnup_disease" title="Hartnup disease">Hartnup disease</a></li></ul></li> <li><i><a href="/wiki/SLC7A7" class="mw-redirect" title="SLC7A7">SLC7A7</a></i> <ul><li><a href="/wiki/Lysinuric_protein_intolerance" title="Lysinuric protein intolerance">Lysinuric protein intolerance</a></li></ul></li> <li><i><a href="/wiki/SLC7A9" class="mw-redirect" title="SLC7A9">SLC7A9</a></i> <ul><li><a href="/wiki/Cystinuria" title="Cystinuria">Cystinuria</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">11-20</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/SLC11A1" class="mw-redirect" title="SLC11A1">SLC11A1</a></i> <ul><li><a href="/wiki/Crohn%27s_disease" title="Crohn's disease">Crohn's disease</a></li></ul></li> <li><i><a href="/wiki/Sodium-chloride_symporter" title="Sodium-chloride symporter">SLC12A3</a></i> <ul><li><a href="/wiki/Gitelman_syndrome" title="Gitelman syndrome">Gitelman syndrome</a></li></ul></li> <li><i><a href="/wiki/SLC16A1" class="mw-redirect" title="SLC16A1">SLC16A1</a></i> <ul><li><a href="/wiki/Hyperinsulinemic_hypoglycemia" title="Hyperinsulinemic hypoglycemia">HHF7</a></li></ul></li> <li><i><a href="/wiki/SLC16A2" class="mw-redirect" title="SLC16A2">SLC16A2</a></i> <ul><li><a href="/wiki/Allan%E2%80%93Herndon%E2%80%93Dudley_syndrome" title="Allan–Herndon–Dudley syndrome">Allan–Herndon–Dudley syndrome</a></li></ul></li> <li><i><a href="/wiki/SLC17A3" title="SLC17A3">SLC17A3</a></i> <ul><li><a href="/wiki/Von_Gierke%27s_disease" class="mw-redirect" title="Von Gierke's disease">Von Gierke's disease</a>, GSD-Ic</li></ul></li> <li><i><a href="/wiki/SLC17A5" class="mw-redirect" title="SLC17A5">SLC17A5</a></i> <ul><li><a href="/wiki/Salla_disease" title="Salla disease">Salla disease</a></li></ul></li> <li><i><a href="/wiki/SLC17A8" class="mw-redirect" title="SLC17A8">SLC17A8</a></i> <ul><li><a class="mw-selflink selflink">DFNA25</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">21-40</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/SLC26A2" class="mw-redirect" title="SLC26A2">SLC26A2</a></i> <ul><li><a href="/wiki/Multiple_epiphyseal_dysplasia" title="Multiple epiphyseal dysplasia">Multiple epiphyseal dysplasia 4</a></li> <li><a href="/wiki/Achondrogenesis" title="Achondrogenesis">Achondrogenesis</a> <a href="/wiki/Achondrogenesis_type_1B" title="Achondrogenesis type 1B">type 1B</a></li> <li><a href="/wiki/Recessive_multiple_epiphyseal_dysplasia" class="mw-redirect" title="Recessive multiple epiphyseal dysplasia">Recessive multiple epiphyseal dysplasia</a></li> <li><a href="/wiki/Atelosteogenesis,_type_II" title="Atelosteogenesis, type II">Atelosteogenesis, type II</a></li> <li><a href="/wiki/Diastrophic_dysplasia" title="Diastrophic dysplasia">Diastrophic dysplasia</a></li></ul></li> <li><i><a href="/wiki/Pendrin" title="Pendrin">SLC26A4</a></i> <ul><li><a href="/wiki/Pendred_syndrome" title="Pendred syndrome">Pendred syndrome</a></li></ul></li> <li><i><a href="/wiki/SLC35C1" class="mw-redirect" title="SLC35C1">SLC35C1</a></i> <ul><li><a href="/wiki/Congenital_disorder_of_glycosylation" title="Congenital disorder of glycosylation">CDOG 2C</a></li></ul></li> <li><i><a href="/wiki/SLC37A4" class="mw-redirect" title="SLC37A4">SLC37A4</a></i> <ul><li><a href="/wiki/Von_Gierke%27s_disease" class="mw-redirect" title="Von Gierke's disease">Von Gierke's disease</a>, GSD-Ib</li></ul></li> <li><i><a href="/wiki/SLC39A4" class="mw-redirect" title="SLC39A4">SLC39A4</a></i> <ul><li><a href="/wiki/Acrodermatitis_enteropathica" title="Acrodermatitis enteropathica">Acrodermatitis enteropathica</a></li></ul></li> <li><i><a href="/wiki/Ferroportin" title="Ferroportin">SLC40A1</a></i> <ul><li><a href="/wiki/African_iron_overload" title="African iron overload">African iron overload</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">51-60</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/MPC1" class="mw-redirect" title="MPC1">SLC54A1</a></i> (<a href="/wiki/MPC1" class="mw-redirect" title="MPC1">Mitochondrial pyruvate carrier deficiency</a>)</li></ul> </div></td></tr><tr><td class="navbox-abovebelow" colspan="2"><div><i>see also <a href="/wiki/Template:Solute_carrier_family" title="Template:Solute carrier family">solute carrier family</a></i></div></td></tr></tbody></table></div>    </div><noscript><img src="https://login.wikimedia.org/wiki/Special:CentralAutoLogin/start?type=1x1&useformat=desktop" alt="" width="1" height="1" style="border: none; position: absolute;"></noscript> <div class="printfooter" data-nosnippet="">Retrieved from "<a dir="ltr" href="https://en.wikipedia.org/w/index.php?title=Nonsyndromic_deafness&oldid=1250680479">https://en.wikipedia.org/w/index.php?title=Nonsyndromic_deafness&oldid=1250680479</a>"</div></div> <div id="catlinks" class="catlinks" data-mw="interface"><div id="mw-normal-catlinks" class="mw-normal-catlinks"><a href="/wiki/Help:Category" title="Help:Category">Categories</a>: <ul><li><a href="/wiki/Category:Channelopathies" title="Category:Channelopathies">Channelopathies</a></li><li><a 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