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<!--
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||
UID=208903
|
||
ConceptID=C0854723
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Retinal dystrophy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208903</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0854723</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Inherited retinal dystrophy</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Retinal dystrophy (314407005)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000556">HP:0000556</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0019118" target="_blank">MONDO:0019118</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=71862">ORPHA71862</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0854723[DISCUI]&test_type=Clinical" ref="ncbi_uid=208903">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=208903" ref="ncbi_uid=208903">V</a></span></span><span class="TLline">Retinal dystrophy</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1370071" ref="tree=MeSH" title="MedGen record for Abnormality of the eye">Abnormality of the eye</a></span><ul><li><span class="TLline"><a href="/medgen/868526" ref="tree=MeSH" title="MedGen record for Abnormal eye morphology">Abnormal eye morphology</a></span><ul><li><span class="TLline"><a href="/medgen/870893" ref="tree=MeSH" title="MedGen record for Abnormal posterior eye segment morphology">Abnormal posterior eye segment morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871316" ref="tree=MeSH" title="MedGen record for Abnormal fundus morphology">Abnormal fundus morphology</a></span><ul><li><span class="TLline"><a href="/medgen/472885" ref="tree=MeSH" title="MedGen record for Abnormal retinal morphology">Abnormal retinal morphology</a></span><ul><li><span class="matched_ds">Retinal dystrophy</span><ul><li><span class="TLline"><a href="/medgen/346626" ref="tree=MeSH" title="MedGen record for Chorioretinal dystrophy">Chorioretinal dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/896366" ref="tree=MeSH" title="MedGen record for Cone-rod dystrophy">Cone-rod dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/854161" ref="tree=MeSH" title="MedGen record for Progressive cone degeneration">Progressive cone degeneration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/891534" ref="tree=MeSH" title="MedGen record for Cone-rod dystrophy 21">Cone-rod dystrophy 21</a></span></li><li><span class="TLline"><a href="/medgen/1636841" ref="tree=MeSH" title="MedGen record for Genetic Macular Dystrophy">Genetic Macular Dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/147590" ref="tree=MeSH" title="MedGen record for North Carolina macular dystrophy">North Carolina macular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/137920" ref="tree=MeSH" title="MedGen record for Vitelliform macular dystrophy">Vitelliform macular dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/334280" ref="tree=MeSH" title="MedGen record for Adult-onset foveomacular vitelliform dystrophy">Adult-onset foveomacular vitelliform dystrophy</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/57825" ref="tree=MeSH" title="MedGen record for Hereditary retinal dystrophy">Hereditary retinal dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/347895" ref="tree=MeSH" title="MedGen record for Bietti crystalline corneoretinal dystrophy">Bietti crystalline corneoretinal dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/483485" ref="tree=MeSH" title="MedGen record for Cone-rod dystrophy 2">Cone-rod dystrophy 2</a></span></li><li><span class="TLline"><a href="/medgen/934647" ref="tree=MeSH" title="MedGen record for RCBTB1-related retinopathy">RCBTB1-related retinopathy</a></span></li><li><span class="TLline"><a href="/medgen/863583" ref="tree=MeSH" title="MedGen record for Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies">Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870319" ref="tree=MeSH" title="MedGen record for Pattern dystrophy of the retina">Pattern dystrophy of the retina</a></span><ul><li><span class="TLline"><a href="/medgen/870333" ref="tree=MeSH" title="MedGen record for Reticular retinal dystrophy">Reticular retinal dystrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/20551" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa">Retinitis pigmentosa</a></span><ul><li><span class="TLline"><a href="/medgen/78675" ref="tree=MeSH" title="MedGen record for Alstrom syndrome">Alstrom syndrome</a></span></li><li><span class="TLline"><a href="/medgen/156019" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome">Bardet-Biedl syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/422452" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 1">Bardet-Biedl syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/422453" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 2">Bardet-Biedl syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/347179" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 3">Bardet-Biedl syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/423627" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 4">Bardet-Biedl syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/856141" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 5">Bardet-Biedl syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/347610" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 6">Bardet-Biedl syndrome 6</a></span></li><li><span class="TLline"><a href="/medgen/347180" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 7">Bardet-Biedl syndrome 7</a></span></li><li><span class="TLline"><a href="/medgen/347181" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 8">Bardet-Biedl syndrome 8</a></span></li><li><span class="TLline"><a href="/medgen/347182" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 9">Bardet-Biedl syndrome 9</a></span></li><li><span class="TLline"><a href="/medgen/347909" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 10">Bardet-Biedl syndrome 10</a></span></li><li><span class="TLline"><a href="/medgen/395295" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 11">Bardet-Biedl syndrome 11</a></span></li><li><span class="TLline"><a href="/medgen/347910" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 12">Bardet-Biedl syndrome 12</a></span></li><li><span class="TLline"><a href="/medgen/393032" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 13">Bardet-Biedl syndrome 13</a></span></li><li><span class="TLline"><a href="/medgen/393033" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 14">Bardet-Biedl syndrome 14</a></span></li><li><span class="TLline"><a href="/medgen/461477" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 15">Bardet-Biedl syndrome 15</a></span></li><li><span class="TLline"><a href="/medgen/855172" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 16">Bardet-Biedl syndrome 16</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/334499" ref="tree=MeSH" title="MedGen record for Bothnia retinal dystrophy">Bothnia retinal dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/416624" ref="tree=MeSH" title="MedGen record for Juvenile retinitis pigmentosa, AIPL1-related">Juvenile retinitis pigmentosa, AIPL1-related</a></span></li><li><span class="TLline"><a href="/medgen/9618" ref="tree=MeSH" title="MedGen record for Kearns-Sayre syndrome">Kearns-Sayre syndrome</a></span></li><li><span class="TLline"><a href="/medgen/346964" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 3">Leber congenital amaurosis 3</a></span></li><li><span class="TLline"><a href="/medgen/382544" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 13">Leber congenital amaurosis 13</a></span></li><li><span class="TLline"><a href="/medgen/433159" ref="tree=MeSH" title="MedGen record for Mitochondrial DNA-Associated Leigh Syndrome and NARP">Mitochondrial DNA-Associated Leigh Syndrome and NARP</a></span></li><li><span class="TLline"><a href="/medgen/67395" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 1">Retinitis pigmentosa 1</a></span></li><li><span class="TLline"><a href="/medgen/394544" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 2">Retinitis pigmentosa 2</a></span></li><li><span class="TLline"><a href="/medgen/336999" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 3">Retinitis pigmentosa 3</a></span></li><li><span class="TLline"><a href="/medgen/462351" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 4">Retinitis pigmentosa 4</a></span></li><li><span class="TLline"><a href="/medgen/334168" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 7">Retinitis pigmentosa 7</a></span></li><li><span class="TLline"><a href="/medgen/356743" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 9">Retinitis pigmentosa 9</a></span></li><li><span class="TLline"><a href="/medgen/357247" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 10">Retinitis pigmentosa 10</a></span></li><li><span class="TLline"><a href="/medgen/325055" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 11">Retinitis pigmentosa 11</a></span></li><li><span class="TLline"><a href="/medgen/374019" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 12">Retinitis pigmentosa 12</a></span></li><li><span class="TLline"><a href="/medgen/325486" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 13">Retinitis pigmentosa 13</a></span></li><li><span class="TLline"><a href="/medgen/325056" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 14">Retinitis pigmentosa 14</a></span></li><li><span class="TLline"><a href="/medgen/322153" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 17">Retinitis pigmentosa 17</a></span></li><li><span class="TLline"><a href="/medgen/371314" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 18">Retinitis pigmentosa 18</a></span></li><li><span class="TLline"><a href="/medgen/400996" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 19">Retinitis pigmentosa 19</a></span></li><li><span class="TLline"><a href="/medgen/462436" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 20">Retinitis pigmentosa 20</a></span></li><li><span class="TLline"><a href="/medgen/350427" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 25">Retinitis pigmentosa 25</a></span></li><li><span class="TLline"><a href="/medgen/333996" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 26">Retinitis pigmentosa 26</a></span></li><li><span class="TLline"><a href="/medgen/320323" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 27">Retinitis pigmentosa 27</a></span></li><li><span class="TLline"><a href="/medgen/244030" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 28">Retinitis pigmentosa 28</a></span></li><li><span class="TLline"><a href="/medgen/334614" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 30">Retinitis pigmentosa 30</a></span></li><li><span class="TLline"><a href="/medgen/372159" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 31">Retinitis pigmentosa 31</a></span></li><li><span class="TLline"><a href="/medgen/332080" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 33">Retinitis pigmentosa 33</a></span></li><li><span class="TLline"><a href="/medgen/339931" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 35">Retinitis pigmentosa 35</a></span></li><li><span class="TLline"><a href="/medgen/351175" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 36">Retinitis pigmentosa 36</a></span></li><li><span class="TLline"><a href="/medgen/410004" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 37">Retinitis pigmentosa 37</a></span></li><li><span class="TLline"><a href="/medgen/462578" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 38">Retinitis pigmentosa 38</a></span></li><li><span class="TLline"><a href="/medgen/462488" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 39">Retinitis pigmentosa 39</a></span></li><li><span class="TLline"><a href="/medgen/462457" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 40">Retinitis pigmentosa 40</a></span></li><li><span class="TLline"><a href="/medgen/383126" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 41">Retinitis pigmentosa 41</a></span></li><li><span class="TLline"><a href="/medgen/442864" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 42">Retinitis pigmentosa 42</a></span></li><li><span class="TLline"><a href="/medgen/462489" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 43">Retinitis pigmentosa 43</a></span></li><li><span class="TLline"><a href="/medgen/462418" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 44">Retinitis pigmentosa 44</a></span></li><li><span class="TLline"><a href="/medgen/462416" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 45">Retinitis pigmentosa 45</a></span></li><li><span class="TLline"><a href="/medgen/382614" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 46">Retinitis pigmentosa 46</a></span></li><li><span class="TLline"><a href="/medgen/462411" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 47">Retinitis pigmentosa 47</a></span></li><li><span class="TLline"><a href="/medgen/462540" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 48">Retinitis pigmentosa 48</a></span></li><li><span class="TLline"><a href="/medgen/442563" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 50">Retinitis pigmentosa 50</a></span></li><li><span class="TLline"><a href="/medgen/462065" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 51">Retinitis pigmentosa 51</a></span></li><li><span class="TLline"><a href="/medgen/462041" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 54">Retinitis pigmentosa 54</a></span></li><li><span class="TLline"><a href="/medgen/462169" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 56">Retinitis pigmentosa 56</a></span></li><li><span class="TLline"><a href="/medgen/462229" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 58">Retinitis pigmentosa 58</a></span></li><li><span class="TLline"><a href="/medgen/462577" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 59">Retinitis pigmentosa 59</a></span></li><li><span class="TLline"><a href="/medgen/462784" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 60">Retinitis pigmentosa 60</a></span></li><li><span class="TLline"><a href="/medgen/481672" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 62">Retinitis pigmentosa 62</a></span></li><li><span class="TLline"><a href="/medgen/482676" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 64">Retinitis pigmentosa 64</a></span></li><li><span class="TLline"><a href="/medgen/765766" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 65">Retinitis pigmentosa 65</a></span></li><li><span class="TLline"><a href="/medgen/811638" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 66">Retinitis pigmentosa 66</a></span></li><li><span class="TLline"><a href="/medgen/816284" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 67">Retinitis pigmentosa 67</a></span></li><li><span class="TLline"><a href="/medgen/816710" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 68">Retinitis pigmentosa 68</a></span></li><li><span class="TLline"><a href="/medgen/862749" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 69">Retinitis pigmentosa 69</a></span></li><li><span class="TLline"><a href="/medgen/863118" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 70">Retinitis pigmentosa 70</a></span></li><li><span class="TLline"><a href="/medgen/78754" ref="tree=MeSH" title="MedGen record for Usher syndrome">Usher syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/292820" ref="tree=MeSH" title="MedGen record for Usher syndrome type 1">Usher syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/83288" ref="tree=MeSH" title="MedGen record for Usher syndrome type 2">Usher syndrome type 2</a></span></li><li><span class="TLline"><a href="/medgen/339336" ref="tree=MeSH" title="MedGen record for Usher syndrome type 3">Usher syndrome type 3</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1632921" ref="tree=MeSH" title="MedGen record for Rod-cone dystrophy">Rod-cone dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/340314" ref="tree=MeSH" title="MedGen record for Autosomal recessive pericentral pigmentary retinopathy">Autosomal recessive pericentral pigmentary retinopathy</a></span></li><li><span class="TLline"><a href="/medgen/1379748" ref="tree=MeSH" title="MedGen record for Sectoral retinitis pigmentosa">Sectoral retinitis pigmentosa</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_44252"><div><strong>Short-rib thoracic dysplasia 6 with or without polydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44252</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0024507</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/44252">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_120520"><div><strong>Ruvalcaba syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120520</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0265248</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/120520">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_96586"><div><strong>Cranioectodermal dysplasia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96586</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0432235</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Cranioectodermal dysplasia (CED) is a ciliopathy with skeletal involvement (narrow thorax, shortened proximal limbs, syndactyly, polydactyly, brachydactyly), ectodermal features (widely spaced hypoplastic teeth, hypodontia, sparse hair, skin laxity, abnormal nails), joint laxity, growth deficiency, and characteristic facial features (frontal bossing, low-set simple ears, high forehead, telecanthus, epicanthal folds, full cheeks, everted lower lip). Most affected children develop nephronophthisis that often leads to end-stage kidney disease in infancy or childhood, a major cause of morbidity and mortality. Hepatic fibrosis and retinal dystrophy are also observed. Dolichocephaly, often secondary to sagittal craniosynostosis, is a primary manifestation that distinguishes CED from most other ciliopathies. Brain malformations and developmental delay may also occur.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/96586">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_321900"><div><strong>Doyne honeycomb retinal dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>321900</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1832174</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Doyne honeycomb retinal dystrophy (DHRD), also known as malattia leventinese (MLVT) and autosomal dominant radial drusen, is a progressive disorder characterized by the accumulation of macular and peripapillary yellow-white deposits, termed 'drusen,' beneath the retinal pigment epithelium in the Bruch membrane. With age, drusen increase in size and number, often forming a honeycomb-like pattern. Massive drusen, geographic retinal atrophy, and macular hyperpigmentation eventually cause visual symptoms in the fifth or sixth decades of life, including decreased visual acuity, metamorphopsia, photophobia, and paracentral scotoma. Complications such as secondary choroidal neovascularization and hemorrhage can result in rapid progression (summary by Sheyanth et al., 2021). Hulleman et al. (2011) noted that both DHRD and MLVT present with clinical and pathologic symptoms similar to age-related macular degeneration (see ARMD1, 603075), including soft drusen accumulation, loss of basolateral ruffling of the RPE, RPE vacuolization, and atrophy, with eventual neovascularization in an accelerated time frame, usually in the fourth decade of life.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/321900">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_332931"><div><strong>Joubert syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332931</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1837713</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/332931">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_334114"><div><strong>Joubert syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334114</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1842577</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/334114">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_334840"><div><strong>Newfoundland cone-rod dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334840</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1843815</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Newfoundland rod-cone dystrophy (NFRCD) is a severe retinal dystrophy in which night blindness is present from infancy. Progressive loss of peripheral, central, and color vision begins in childhood and results in severe visual loss by the second to fourth decade of life (Eichers et al., 2002).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/334840">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_334499"><div><strong>Bothnia retinal dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334499</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1843816</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Bothnia retinal dystrophy is an autosomal recessive disorder with onset of night blindness in childhood. The fundus has a characteristic appearance with yellow-white spots, and at later stages patients develop widespread retinal degeneration with areas of chorioretinal atrophy (summary by Granse et al., 2001).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/334499">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_375801"><div><strong>Roifman syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375801</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1846059</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">RNU4atac-opathy encompasses the phenotypic spectrum of biallelic RNU4ATAC pathogenic variants, including the three historically designated clinical phenotypes microcephalic osteodysplastic primordial dwarfism type I/III (MOPDI), Roifman syndrome, and Lowry-Wood syndrome, as well as varying combinations of the disease features / system involvement that do not match specific defined phenotypes. Findings present in all affected individuals include growth restriction, microcephaly, skeletal dysplasia, and cognitive impairment. Less common but variable findings include brain anomalies, seizures, strokes, immunodeficiency, and cardiac anomalies, as well as ophthalmologic, skin, renal, gastrointestinal, hearing, and endocrine involvement.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/375801">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_341448"><div><strong>Retinal dystrophy, reticular pigmentary, of posterior pole</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341448</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1849407</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Reticular pigmentary retinal dystrophy is a form of patterned dystrophy (see MDPT1, 169150) characterized by a reticular pattern of pigmentation that likely appears in infancy and may be fully developed at age 15 years. Indirect funduscopy has shown that the condition is bilateral and symmetric and that the pigmentary deposits are localized below the neuroepithelium, very likely in the pigment epithelium. The reticulum extends from the macula in all directions, sparing the midperiphery and periphery. Visual acuity is unaffected or only minimally affected in advanced stages. Retinal function testing is normal, although the electrooculogram and dark adaptation can be at the lower limit of normal values (summary by Schauwvlieghe et al., 2013).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/341448">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_341455"><div><strong>Saldino-Mainzer syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341455</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1849437</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/341455">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_338045"><div><strong>Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338045</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1850406</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">MPV17-related mitochondrial DNA (mtDNA) maintenance defect presents in the vast majority of affected individuals as an early-onset encephalohepatopathic (hepatocerebral) disease that is typically associated with mtDNA depletion, particularly in the liver. A later-onset neuromyopathic disease characterized by myopathy and neuropathy, and associated with multiple mtDNA deletions in muscle, has also rarely been described. MPV17-related mtDNA maintenance defect, encephalohepatopathic form is characterized by: Hepatic manifestations (liver dysfunction that typically progresses to liver failure, cholestasis, hepatomegaly, and steatosis); Neurologic involvement (developmental delay, hypotonia, microcephaly, and motor and sensory peripheral neuropathy); Gastrointestinal manifestations (gastrointestinal dysmotility, feeding difficulties, and failure to thrive); and Metabolic derangements (lactic acidosis and hypoglycemia). Less frequent manifestations include renal tubulopathy, nephrocalcinosis, and hypoparathyroidism. Progressive liver disease often leads to death in infancy or early childhood. Hepatocellular carcinoma has been reported.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/338045">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_340930"><div><strong>Joubert syndrome with oculorenal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340930</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855675</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340930">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347406"><div><strong>Donnai-Barrow syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347406</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1857277</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Donnai-Barrow syndrome (DBS) is characterized by typical craniofacial features (large anterior fontanelle, wide metopic suture, widow's peak, markedly widely spaced eyes, enlarged globes, downslanted palpebral fissures, posteriorly rotated ears, depressed nasal bridge, and short nose. Ocular complications include high myopia, retinal detachment, retinal dystrophy, and progressive vision loss. Additional common features include agenesis of the corpus callosum, sensorineural hearing loss, intellectual disability, and congenital diaphragmatic hernia and/or omphalocele. Both inter- and intrafamilial phenotypic variability are observed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347406">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341851"><div><strong>MORM syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341851</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1857802</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
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<div class="spaceAbove">Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome (MORMS) is an autosomal recessive disorder characterized by these findings (Hampshire et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341851">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347798"><div><strong>Ataxia-hypogonadism-choroidal dystrophy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347798</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1859093</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">PNPLA6 disorders span a phenotypic continuum characterized by variable combinations of cerebellar ataxia; upper motor neuron involvement manifesting as spasticity and/or brisk reflexes; chorioretinal dystrophy associated with variable degrees of reduced visual function; and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). The hypogonadotropic hypogonadism occurs either in isolation or as part of anterior hypopituitarism (growth hormone, thyroid hormone, or gonadotropin deficiencies). Common but less frequent features are peripheral neuropathy (usually of axonal type manifesting as reduced distal reflexes, diminished vibratory sensation, and/or distal muscle wasting); hair anomalies (long eyelashes, bushy eyebrows, or scalp alopecia); short stature; and impaired cognitive functioning (learning disabilities in children; deficits in attention, visuospatial abilities, and recall in adults). Some of these features can occur in distinct clusters on the phenotypic continuum: Boucher-Neuhäuser syndrome (cerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism); Gordon Holmes syndrome (cerebellar ataxia, hypogonadotropic hypogonadism, and – to a variable degree – brisk reflexes); Oliver-McFarlane syndrome (trichomegaly, chorioretinal dystrophy, short stature, intellectual disability, and hypopituitarism); Laurence-Moon syndrome; and spastic paraplegia type 39 (SPG39) (upper motor neuron involvement, peripheral neuropathy, and sometimes reduced cognitive functioning and/or cerebellar ataxia).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347798">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347909"><div><strong>Bardet-Biedl syndrome 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347909</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1859568</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">BBS10 is characterized by progressive retinal dystrophy, obesity, polydactyly, cognitive impairment, and renal dysplasia (Stoetzel et al., 2006). BBS10 represents a major locus for BBS, with mutations in the BBS10 gene accounting for approximately 20% of BBS patients (Stoetzel et al., 2006; Zaghloul and Katsanis, 2009). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347909">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355268"><div><strong>Microphthalmia with brain and digit anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355268</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1864689</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">This syndrome has characteristics of anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355268">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350491"><div><strong>Syndromic microphthalmia type 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350491</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1864690</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations. Less than 20 cases have been reported in the literature so far. The clinical picture is highly variable, even between affected members of the same family. Severe developmental delay was noted in some patients, whilst others showed normal cognitive development. Pituitary dysfunction, leading to growth hormone deficiency and short stature, or combined pituitary hormone deficiency, has also been reported. The syndrome is caused by heterozygous mutations in the OTX2 gene (14q22.3).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350491">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_357237"><div><strong>Dominant pericentral pigmentary retinopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357237</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1867261</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/357237">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_369401"><div><strong>Joubert syndrome 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>369401</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1969053</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/369401">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_410166"><div><strong>Glycogen storage disease due to phosphoglycerate kinase 1 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>410166</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1970848</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/410166">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_382544"><div><strong>Leber congenital amaurosis 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382544</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2675186</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Leber congenital amaurosis, also known as LCA, is an eye disorder that is present from birth (congenital). This condition primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. The visual impairment tends to be severe and may worsen over time.\n\nLeber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). The pupils, which usually expand and contract in response to the amount of light entering the eye, do not react normally to light. Instead, they expand and contract more slowly than normal, or they may not respond to light at all.\n\nA specific behavior called Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of affected individuals poking, pressing, and rubbing their eyes with a knuckle or finger. Poking their eyes often results in the sensation of flashes of light called phosphenes. Researchers suspect that this behavior may contribute to deep-set eyes in affected children.\n\nIn very rare cases, delayed development and intellectual disability have been reported in people with the features of Leber congenital amaurosis. Because of the visual loss, affected children may become isolated. Providing children with opportunities to play, hear, touch, understand and other early educational interventions may prevent developmental delays in children with Leber congenital amaurosis.\n\nAt least 20 genetic types of Leber congenital amaurosis have been described. The types are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/382544">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_382940"><div><strong>Joubert syndrome 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382940</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2676788</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/382940">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_442375"><div><strong>Leber congenital amaurosis 14</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442375</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2750063</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/442375">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_422452"><div><strong>Bardet-Biedl syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>422452</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2936862</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl Syndrome BBS2 (615981) is caused by mutation in a gene on 16q13 (606151); BBS3 (600151), by mutation in the ARL6 gene on 3q11 (608845); BBS4 (615982), by mutation in a gene on 15q22 (600374); BBS5 (615983), by mutation in a gene on 2q31 (603650); BBS6 (605231), by mutation in the MKKS gene on 20p12 (604896); BBS7 (615984), by mutation in a gene on 4q27 (607590); BBS8 (615985), by mutation in the TTC8 gene on 14q32 (608132); BBS9 (615986), by mutation in a gene on 7p14 (607968); BBS10 (615987), by mutation in a gene on 12q21 (610148); BBS11 (615988), by mutation in the TRIM32 gene on 9q33 (602290); BBS12 (615989), by mutation in a gene on 4q27 (610683); BBS13 (615990), by mutation in the MKS1 gene (609883) on 17q23; BBS14 (615991), by mutation in the CEP290 gene (610142) on 12q21, BBS15 (615992), by mutation in the WDPCP gene (613580) on 2p15; BBS16 (615993), by mutation in the SDCCAG8 gene (613524) on 1q43; BBS17 (615994), by mutation in the LZTFL1 gene (606568) on 3p21; BBS18 (615995), by mutation in the BBIP1 gene (613605) on 10q25; BBS19 (615996), by mutation in the IFT27 gene (615870) on 22q12; BBS20 (619471), by mutation in the IFT172 gene (607386) on 9p21; BBS21 (617406), by mutation in the CFAP418 gene (614477) on 8q22; and BBS22 (617119), by mutation in the IFT74 gene (608040) on 9p21. The CCDC28B gene (610162) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67; 609884), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes. Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene (608845.0002) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene (209901.0001). Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (613464), caused by TTC8 mutation, and RP55 (613575), caused by ARL6 mutation.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/422452">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_477139"><div><strong>Multiple congenital anomalies-hypotonia-seizures syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477139</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3275508</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Multiple congenital anomalies-hypotonia-seizures syndrome-2 (MCAHS2) is an X-linked recessive neurodevelopmental disorder characterized by dysmorphic features, neonatal hypotonia, early-onset myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Some affected individuals die in infancy (summary by Johnston et al., 2012). The phenotype shows clinical variability with regard to severity and extraneurologic features. However, most patients present in infancy with early-onset epileptic encephalopathy associated with developmental arrest and subsequent severe neurologic disability; these features are consistent with a form of developmental and epileptic encephalopathy (DEE) (summary by Belet et al., 2014, Kato et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080). For a discussion of nomenclature and genetic heterogeneity of DEE, see 308350. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/477139">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_480111"><div><strong>Microcephaly and chorioretinopathy 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480111</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3278481</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Microcephaly and chorioretinopathy is an autosomal recessive developmental disorder characterized by delayed psychomotor development and visual impairment, often accompanied by short stature (summary by Martin et al., 2014). Genetic Heterogeneity of Microcephaly and Chorioretinopathy See also MCCRP2 (616171), caused by mutation in the PLK4 gene (605031) on chromosome 4q27, and MCCRP3 (616335), caused by mutation in the TUBGCP4 gene (609610) on chromosome 15q15. An autosomal dominant form of microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development is caused by heterozygous mutation in the KIF11 gene (148760) on chromosome 10q23. See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive pigmentary retinopathy and mental retardation; 268050).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/480111">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482527"><div><strong>Joubert syndrome 15</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482527</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3280897</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482527">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482536"><div><strong>Joubert syndrome 16</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482536</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3280906</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482536">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482822"><div><strong>Infantile cerebellar-retinal degeneration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482822</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3281192</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infantile cerebellar-retinal degeneration (ICRD) is a severe autosomal recessive neurodegenerative disorder characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. Affected individuals show profound psychomotor retardation, with only some achieving rolling, sitting, or recognition of family. Brain MRI shows progressive cerebral and cerebellar degeneration (summary by Spiegel et al., 2012). A subset of patients may have a milder phenotype with variable features, including ataxia, developmental delay, and behavioral abnormalities (Blackburn et al., 2020). Mutation in the ACO2 gene also causes isolated optic atrophy (OPA9; 616289).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482822">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_761331"><div><strong>Neuronal ceroid lipofuscinosis 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>761331</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3539123</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neuronal ceroid lipofuscinosis-11 (CLN11) is an autosomal recessive progressive neurodegenerative disorder characterized by seizures (often refractory), progressive cerebellar ataxia and gait abnormalities, cognitive decline particularly affecting executive function, and behavioral abnormalities. The age at onset is variable, ranging from midchildhood to the second or third decades. Most patients have progressive visual loss with retinal abnormalities and cataracts; visual hallucinations may occur and many patients are photosensitive. The severity of the disorder is variable, but it is progressive and can lead to severe disability with blindness, loss of ambulation, and severe cognitive impairment (Huin et al., 2020; Neuray et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/761331">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_762202"><div><strong>Peroxisome biogenesis disorder 5B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>762202</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3542026</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012). For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539. Individuals with mutations in the PEX2 gene have cells of complementation group 5 (CG5, equivalent to CG10 and CGF). For information on the history of PBD complementation groups, see 214100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/762202">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_763607"><div><strong>Peroxisome biogenesis disorder type 3B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>763607</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3550693</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. While individual phenotypes (e.g., Zellweger syndrome [ZS], neonatal adrenoleukodystrophy [NALD], and infantile Refsum disease [IRD]) were described in the past before the biochemical and molecular bases of this spectrum were fully determined, the term "ZSD" is now used to refer to all individuals with a defect in one of the ZSD-PEX genes regardless of phenotype. Individuals with ZSD usually come to clinical attention in the newborn period or later in childhood. Affected newborns are hypotonic and feed poorly. They have distinctive facies, congenital malformations (neuronal migration defects associated with neonatal-onset seizures, renal cysts, and bony stippling [chondrodysplasia punctata] of the patella[e] and the long bones), and liver disease that can be severe. Infants with severe ZSD are significantly impaired and typically die during the first year of life, usually having made no developmental progress. Individuals with intermediate/milder ZSD do not have congenital malformations, but rather progressive peroxisome dysfunction variably manifest as sensory loss (secondary to retinal dystrophy and sensorineural hearing loss), neurologic involvement (ataxia, polyneuropathy, and leukodystrophy), liver dysfunction, adrenal insufficiency, and renal oxalate stones. While hypotonia and developmental delays are typical, intellect can be normal. Some have osteopenia; almost all have ameleogenesis imperfecta in the secondary teeth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/763607">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766363"><div><strong>Pontocerebellar hypoplasia type 1B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766363</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3553449</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">EXOSC3 pontocerebellar hypoplasia (EXOSC3-PCH) is characterized by abnormalities in the posterior fossa and degeneration of the anterior horn cells. At birth, skeletal muscle weakness manifests as hypotonia (sometimes with congenital joint contractures) and poor feeding. In persons with prolonged survival, spasticity, dystonia, and seizures become evident. Within the first year of life respiratory insufficiency and swallowing difficulties are common. Intellectual disability is severe. Life expectancy ranges from a few weeks to adolescence. To date, 82 individuals (from 58 families) with EXOSC3-PCH have been described.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766363">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766851"><div><strong>Peroxisome biogenesis disorder 4B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766851</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3553937</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Peroxisome biogenesis disorder-4B (PBD4B) includes the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders (PBDs). The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012). For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539. Individuals with mutations in the PEX6 gene have cells of complementation group 4 (CG4, equivalent to CG6 and CGC). For information on the history of PBD complementation groups, see 214100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766851">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766862"><div><strong>Peroxisome biogenesis disorder 6B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766862</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3553948</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood. Some patients with PEX10 mutations have a milder disorder characterized by childhood-onset cerebellar ataxia and neuropathy without mental retardation (summary by Waterham and Ebberink, 2012). For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539. Individuals with mutations in the PEX10 gene have cells of complementation group 7 (CG7, equivalent to CGB). For information on the history of PBD complementation groups, see 214100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766862">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766865"><div><strong>Peroxisome biogenesis disorder 7B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766865</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3553951</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012). For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539. Individuals with mutations in the PEX26 gene have cells of complementation group 8 (CG8, equivalent to CGA). For information on the history of PBD complementation groups, see 214100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766865">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766874"><div><strong>Peroxisome biogenesis disorder 8B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766874</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3553960</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012). For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539. Individuals with mutations in the PEX16 gene have cells of complementation group 9 (CG9, equivalent to CGD). For information on the history of PBD complementation groups, see 214100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766874">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767507"><div><strong>Progressive retinal dystrophy due to retinol transport defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767507</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3554593</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Progressive retinal dystrophy due to retinol transport defect is a rare, genetic, metabolite absorption and transport disorder characterized by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolemia has been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767507">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_812504"><div><strong>Bardet-Biedl syndrome 18</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>812504</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3806174</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">BBS18 is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, obesity, kidney failure, and cognitive disability (Scheidecker et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/812504">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_814707"><div><strong>Cataract 16 multiple types</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>814707</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3808377</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mutations in the CRYAB gene have been found to cause multiple types of cataract, which have been described as congenital posterior polar, congenital lamellar, and juvenile. Autosomal dominant and autosomal recessive forms have been described. The preferred title/symbol of this entry was formerly 'Cataract, Posterior Polar, 2; CTPP2.'</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/814707">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_862780"><div><strong>Intellectual disability, autosomal recessive 42</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862780</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4014343</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities (NEDDSBA) is an autosomal recessive neurodevelopmental disorder characterized by severely delayed global development, with hypotonia, impaired intellectual development, and poor or absent speech. Most patients have spasticity with limb hypertonia and brisk tendon reflexes. Additional features include nonspecific dysmorphic facial features, structural brain abnormalities, and cortical visual impairment (summary by Bosch et al., 2015). Novarino et al. (2014) labeled the disorder 'spastic paraplegia-67' (SPG67). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/862780">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863258"><div><strong>Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863258</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4014821</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Poretti-Boltshauser syndrome is an autosomal recessive disorder characterized by cerebellar dysplasia, cerebellar vermis hypoplasia, cerebellar cysts in most patients, high myopia, variable retinal dystrophy, and eye movement abnormalities. Affected individuals have delayed motor development and often have speech delay. Cognitive function can range from normal to intellectually disabled (summary by Aldinger et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863258">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863583"><div><strong>Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863583</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4015146</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies is a rare, genetic, retinal dystrophy disorder characterized by decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863583">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863679"><div><strong>Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863679</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4015242</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic syndromic rod-cone dystrophy disorder with characteristics of psychomotor developmental delay from early childhood, intellectual disability, short stature, mild facial dysmorphism (e.g. upslanted palpebral fissures, hypoplastic alae nasi, malar hypoplasia, attached earlobes), excessive dental spacing and malocclusion, juvenile cataract and ophthalmologic findings of atypical retinitis pigmentosa (i.e. salt-and-pepper retinopathy, attenuated retinal arterioles, generalised rod-cone dysfunction, mottled macula, peripapillary sparing of retinal pigment epithelium).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863679">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863861"><div><strong>Retinal dystrophy and obesity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863861</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4015424</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863861">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_891534"><div><strong>Cone-rod dystrophy 21</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>891534</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4049066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any cone-rod dystrophy in which the cause of the disease is a mutation in the DRAM2 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/891534">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_897828"><div><strong>Spastic paraplegia-severe developmental delay-epilepsy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>897828</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225215</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paraplegia and psychomotor retardation with or without seizures is an autosomal recessive complex neurodevelopmental disorder with onset in infancy. Affected children show hypotonia followed by severely impaired global development and significant motor disability. Most develop seizures in childhood and have speech delay. Other features, such as ocular abnormalities, foot deformities, hypoplasia of the corpus callosum, and decreased white matter, are more variable (summary by Hollstein et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/897828">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_899086"><div><strong>Senior-Loken syndrome 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>899086</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225263</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Senior-Loken syndrome-9 is an autosomal recessive disorder characterized by early-onset nephronophthisis and pigmentary retinopathy. Additional more variable features can include liver defects, skeletal anomalies, and obesity (summary by Bizet et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/899086">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_902513"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902513</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225291</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies' (summary by Geis et al., 2013 and Riemersma et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/902513">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_905171"><div><strong>Senior-Loken syndrome 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>905171</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225376</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/905171">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_899675"><div><strong>Trichothiodystrophy 5, nonphotosensitive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>899675</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225420</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Trichothiodystrophy-5 (TTD5) is an X-linked disorder characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities (summary by Mendelsohn et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of trichothiodystrophy, see TTD1 (601675).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/899675">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_894574"><div><strong>Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>894574</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225424</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic eye disease with characteristics of optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/894574">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934647"><div><strong>RCBTB1-related retinopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934647</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4310680</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An autosomal recessive condition caused by mutation(s) in the RCBTB1 gene, encoding RCC1 and BTB domain-containing protein 1. It is characterized by severe retinal dystrophy. Associated extraocular abnormalities may or may not be present.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934647">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934711"><div><strong>Bone marrow failure syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934711</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4310744</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bone marrow failure syndrome-3 is an autosomal recessive disorder characterized by onset of pancytopenia in early childhood. Patients may have additional variable nonspecific somatic abnormalities, including poor growth, microcephaly, and skin anomalies (summary by Tummala et al., 2016). BMFS3 has a distinct phenotype and may include features that overlap with Shwachman-Diamond syndrome (SDS1; 260400), such as pancreatic insufficiency and short stature, and with dyskeratosis congenita (see, e.g., DKCA1, 127550), such as dental and hair abnormalities and shortened telomeres. In addition, some patients may have joint and skeletal abnormalities, impaired development, and retinal dysplasia (summary by D'Amours et al., 2018). For a discussion of genetic heterogeneity of BMFS, see BMFS1 (614675).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934711">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934729"><div><strong>Developmental and epileptic encephalopathy, 38</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934729</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4310762</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-38 (DEE38) is an autosomal recessive neurologic and neurodegenerative disorder characterized by the onset of various type of seizures usually between about 4 and 7 months of age. Prior to the onset of seizures, most infants show severely impaired global development, hypotonia with poor head control, and visual inattention with roving eye movements and nystagmus. Seizures are usually refractory to treatment and associated with status epilepticus. Patients have little or no development with inability to walk or speak, spasticity or abnormal movements, and often cortical blindness. There is failure to thrive, and many require tube-feeding. Death in early childhood due to aspiration or intractable epilepsy may occur. The disorder is associated with a defect in GPI-anchoring of membrane-bound proteins (summary by Palmer et al., 2016; Davids et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934729">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1381980"><div><strong>Retinal dystrophy with or without macular staphyloma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1381980</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4479651</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1381980">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1613861"><div><strong>Joubert syndrome 30</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1613861</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4539937</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1613861">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1639722"><div><strong>Senior-Loken syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1639722</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551559</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nephronophthisis causes fluid-filled cysts to develop in the kidneys beginning in childhood. These cysts impair kidney function, initially causing increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). Nephronophthisis leads to end-stage renal disease (ESRD) later in childhood or in adolescence. ESRD is a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively.\n\nLeber congenital amaurosis primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. This condition causes vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). Some people with Senior-Løken syndrome develop the signs of Leber congenital amaurosis within the first few years of life, while others do not develop vision problems until later in childhood.\n\nSenior-Løken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1639722">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1644883"><div><strong>Joubert syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644883</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551568</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644883">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1677486"><div><strong>Warburg-cinotti syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1677486</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5193019</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Warburg-Cinotti syndrome (WRCN) is characterized by progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acroosteolysis (Xu et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1677486">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1774807"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1774807</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5436962</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239) are characterized by early onset of muscle weakness, usually before ambulation is achieved; intellectual disability mild brain anomalies are variable (Balci et al., 2005; Godfrey et al., 2007). Congenital muscular dystrophy-dystroglycanopathies with or without impaired intellectual development (type B) represent the intermediate range of the spectrum of dystroglycanopathies. They are less severe than muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, 236670), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and more severe than limb-girdle muscular dystrophy-dystroglycanopathy (type C; see MDDGC1, 609308). Genetic Heterogeneity of Congenital Muscular Dystrophy-Dystroglycanopathy with or without Impaired Intellectual Development (Type B) Congenital muscular dystrophy with impaired intellectual development due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGB2 (613156), caused by mutation in the POMT2 gene (607439); MDDGB3 (613151), caused by mutation in the POMGNT1 gene (606822); MDDGB4 (613152), caused by mutation in the FKTN gene (607440); MDDGB5 (616612), caused by mutation in the FKRP gene (606596); MDDGB6 (608840), caused by mutation in the LARGE gene (603590); MDDGB14 (615351), caused by mutation in the GMPPB gene (615320); and MDDGB15 (618992), caused by mutation in the DPM3 gene (605951).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1774807">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1780242"><div><strong>Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1780242</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5543287</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CIMDAG syndrome (CIMDAG) is a multisystemic disorder characterized by severely impaired psychomotor development and hematologic abnormalities apparent from early infancy. Affected individuals show poor overall growth with microcephaly, impaired intellectual development, poor or absent speech, poor eye contact, and motor problems, such as inability to walk, hypotonia, and spasticity. Brain imaging typically shows cerebral and cerebellar atrophy, thin corpus callosum, and delayed myelination. The associated hematologic abnormalities are variable, but are mostly consistent with congenital dyserythropoietic anemia (CDA) (summary by Rodger et al., 2020 and Seu et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1780242">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1784590"><div><strong>Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1784590</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5543375</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies (GKAF) is characterized by microcephaly, congenital alopecia, distinctive craniofacial features, severe congenital sensorineural hearing loss, global developmental delay, hydrocephalus, hypoplastic kidneys with renal insufficiency, genital hypoplasia, and early mortality (Ito et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1784590">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794187"><div><strong>Neurodevelopmental disorder with hypotonia and brain abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794187</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5561977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with hypotonia and brain abnormalities (NEDHYBA) is characterized by impaired development of motor skills, cognitive function, and speech acquisition beginning in infancy or early childhood. Some affected individuals may have feeding difficulties, seizures, behavioral abnormalities, and nonspecific dysmorphic facial features. Brain imaging shows variable abnormalities, including corpus callosum defects, cerebellar defects, and decreased white matter volume. There is significant phenotypic variability (summary by Duncan et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794187">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794210"><div><strong>Joubert syndrome 39</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794210</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5562000</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Joubert syndrome-39 (JBTS39) is an autosomal recessive neurodevelopmental disorder with variable manifestations. Most affected individuals have developmental delay with poor speech and retinal dystrophy with abnormal eye movements. Brain imaging shows the pathognomonic 'molar tooth sign,' which reflects abnormal cerebellar formation (Van De Weghe et al., 2021). For a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794210">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1823963"><div><strong>Developmental and epileptic encephalopathy 105 with hypopituitarism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823963</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5774190</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-105 with hypopituitarism (DEE105) is an autosomal recessive disorder characterized by the onset of seizures and pituitary insufficiency in the first weeks or months of life. Affected individuals have profoundly impaired development with almost no acquisition of skills. They are hypotonic, unable to sit or speak, and have poor or absent visual fixation. Endocrine workup shows central pituitary dysfunction with low hormone levels. Brain imaging shows cerebral atrophy, thin corpus callosum, and small pituitary gland (Schanzer et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1823963">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841232"><div><strong>Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841232</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5830596</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities (NEDMLOB) is an autosomal recessive neurologic disorder characterized by the onset of features in infancy or early childhood. Affected individuals show hypotonia, severe motor delay with ataxic gait or sometimes an inability to achieve walking, and impaired intellectual development with speech and language delay. Ocular defects can include optic atrophy, nystagmus, strabismus, and retinal dystrophy. Additional features may include seizures (in some), dysmorphic facial features, poor overall growth, and variable brain imaging abnormalities (Tepe et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841232">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863258" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347798" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ataxia-hypogonadism-choroidal dystrophy syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_422452" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bardet-Biedl syndrome 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347909" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bardet-Biedl syndrome 10</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_812504" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bardet-Biedl syndrome 18</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (69)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934711" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bone marrow failure syndrome 3</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334499" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bothnia retinal dystrophy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_814707" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cataract 16 multiple types</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1780242" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_894574" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_891534" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cone-rod dystrophy 21</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96586" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cranioectodermal dysplasia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823963" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy 105 with hypopituitarism</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934729" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 38</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_357237" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dominant pericentral pigmentary retinopathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347406" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Donnai-Barrow syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_321900" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Doyne honeycomb retinal dystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_410166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glycogen storage disease due to phosphoglycerate kinase 1 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1784590" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482822" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile cerebellar-retinal degeneration</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_862780" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal recessive 42</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1644883" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joubert syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482527" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joubert syndrome 15</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482536" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joubert syndrome 16</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334114" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joubert syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332931" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joubert syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1613861" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joubert syndrome 30</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794210" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joubert syndrome 39</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_369401" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joubert syndrome 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joubert syndrome 9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340930" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joubert syndrome with oculorenal defect</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382544" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leber congenital amaurosis 13</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_442375" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leber congenital amaurosis 14</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_480111" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly and chorioretinopathy 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355268" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microphthalmia with brain and digit anomalies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338045" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341851" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">MORM syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_477139" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple congenital anomalies-hypotonia-seizures syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_902513" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1774807" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794187" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia and brain abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_761331" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronal ceroid lipofuscinosis 11</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334840" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Newfoundland cone-rod dystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766851" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 4B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_762202" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 5B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766862" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 6B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766865" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 7B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766874" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 8B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_763607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder type 3B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766363" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pontocerebellar hypoplasia type 1B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767507" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive retinal dystrophy due to retinol transport defect</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934647" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">RCBTB1-related retinopathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863861" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal dystrophy and obesity</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863583" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1381980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal dystrophy with or without macular staphyloma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341448" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal dystrophy, reticular pigmentary, of posterior pole</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863679" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375801" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Roifman syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120520" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ruvalcaba syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341455" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Saldino-Mainzer syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1639722" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Senior-Loken syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_905171" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Senior-Loken syndrome 8</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_899086" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Senior-Loken syndrome 9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_44252" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short-rib thoracic dysplasia 6 with or without polydactyly</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_897828" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic paraplegia-severe developmental delay-epilepsy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350491" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syndromic microphthalmia type 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_899675" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Trichothiodystrophy 5, nonphotosensitive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1677486" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Warburg-cinotti syndrome</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36736907">AAV vectors applied to the treatment of CNS disorders: Clinical status and challenges.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kang L,
|
||
Jin S,
|
||
Wang J,
|
||
Lv Z,
|
||
Xin C,
|
||
Tan C,
|
||
Zhao M,
|
||
Wang L,
|
||
Liu J</span><br />
|
||
<span class="medgenPMjournal">J Control Release</span>
|
||
2023 Mar;355:458-473.
|
||
Epub 2023 Feb 13
|
||
doi: 10.1016/j.jconrel.2023.01.067.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36736907" target="_blank">36736907</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36803942">Joubert syndrome: Molecular basis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spahiu L,
|
||
Behluli E,
|
||
Grajçevci-Uka V,
|
||
Liehr T,
|
||
Temaj G</span><br />
|
||
<span class="medgenPMjournal">J Mother Child</span>
|
||
2022 Mar 1;26(1):118-123.
|
||
Epub 2023 Feb 22
|
||
doi: 10.34763/jmotherandchild.20222601.d-22-00034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36803942" target="_blank">36803942</a><a href="/pmc/articles/PMC10032320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35238134">Genotype-phenotype correlates in Joubert syndrome: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gana S,
|
||
Serpieri V,
|
||
Valente EM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2022 Mar;190(1):72-88.
|
||
Epub 2022 Mar 3
|
||
doi: 10.1002/ajmg.c.31963.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35238134" target="_blank">35238134</a><a href="/pmc/articles/PMC9314610" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22retinal%20dystrophy%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (70)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35238134">Genotype-phenotype correlates in Joubert syndrome: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gana S,
|
||
Serpieri V,
|
||
Valente EM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2022 Mar;190(1):72-88.
|
||
Epub 2022 Mar 3
|
||
doi: 10.1002/ajmg.c.31963.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35238134" target="_blank">35238134</a><a href="/pmc/articles/PMC9314610" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29597005">Non-syndromic retinitis pigmentosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verbakel SK,
|
||
van Huet RAC,
|
||
Boon CJF,
|
||
den Hollander AI,
|
||
Collin RWJ,
|
||
Klaver CCW,
|
||
Hoyng CB,
|
||
Roepman R,
|
||
Klevering BJ</span><br />
|
||
<span class="medgenPMjournal">Prog Retin Eye Res</span>
|
||
2018 Sep;66:157-186.
|
||
Epub 2018 Mar 27
|
||
doi: 10.1016/j.preteyeres.2018.03.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29597005" target="_blank">29597005</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28712537">Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Russell S,
|
||
Bennett J,
|
||
Wellman JA,
|
||
Chung DC,
|
||
Yu ZF,
|
||
Tillman A,
|
||
Wittes J,
|
||
Pappas J,
|
||
Elci O,
|
||
McCague S,
|
||
Cross D,
|
||
Marshall KA,
|
||
Walshire J,
|
||
Kehoe TL,
|
||
Reichert H,
|
||
Davis M,
|
||
Raffini L,
|
||
George LA,
|
||
Hudson FP,
|
||
Dingfield L,
|
||
Zhu X,
|
||
Haller JA,
|
||
Sohn EH,
|
||
Mahajan VB,
|
||
Pfeifer W,
|
||
Weckmann M,
|
||
Johnson C,
|
||
Gewaily D,
|
||
Drack A,
|
||
Stone E,
|
||
Wachtel K,
|
||
Simonelli F,
|
||
Leroy BP,
|
||
Wright JF,
|
||
High KA,
|
||
Maguire AM</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2017 Aug 26;390(10097):849-860.
|
||
Epub 2017 Jul 14
|
||
doi: 10.1016/S0140-6736(17)31868-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28712537" target="_blank">28712537</a><a href="/pmc/articles/PMC5726391" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26750748">Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Braverman NE,
|
||
Raymond GV,
|
||
Rizzo WB,
|
||
Moser AB,
|
||
Wilkinson ME,
|
||
Stone EM,
|
||
Steinberg SJ,
|
||
Wangler MF,
|
||
Rush ET,
|
||
Hacia JG,
|
||
Bose M</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2016 Mar;117(3):313-21.
|
||
Epub 2015 Dec 23
|
||
doi: 10.1016/j.ymgme.2015.12.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26750748" target="_blank">26750748</a><a href="/pmc/articles/PMC5214431" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22713813">Bardet-Biedl syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Forsythe E,
|
||
Beales PL</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2013 Jan;21(1):8-13.
|
||
Epub 2012 Jun 20
|
||
doi: 10.1038/ejhg.2012.115.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22713813" target="_blank">22713813</a><a href="/pmc/articles/PMC3522196" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20dystrophy%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (511)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36517348">"Lipoid" Macular Edema in Familial Hypertriglyceridemia and Retinal Dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pinheiro RL,
|
||
Marques JP,
|
||
Murta JN</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2023 Feb;7(2):188.
|
||
Epub 2022 Dec 12
|
||
doi: 10.1016/j.oret.2022.11.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36517348" target="_blank">36517348</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36803942">Joubert syndrome: Molecular basis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spahiu L,
|
||
Behluli E,
|
||
Grajçevci-Uka V,
|
||
Liehr T,
|
||
Temaj G</span><br />
|
||
<span class="medgenPMjournal">J Mother Child</span>
|
||
2022 Mar 1;26(1):118-123.
|
||
Epub 2023 Feb 22
|
||
doi: 10.34763/jmotherandchild.20222601.d-22-00034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36803942" target="_blank">36803942</a><a href="/pmc/articles/PMC10032320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33301772">Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun Z,
|
||
Yang L,
|
||
Li H,
|
||
Zou X,
|
||
Wang L,
|
||
Wu S,
|
||
Zhu T,
|
||
Wei X,
|
||
Zhong Y,
|
||
Sui R</span><br />
|
||
<span class="medgenPMjournal">Exp Eye Res</span>
|
||
2021 Jan;202:108389.
|
||
Epub 2020 Dec 7
|
||
doi: 10.1016/j.exer.2020.108389.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33301772" target="_blank">33301772</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28712537">Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Russell S,
|
||
Bennett J,
|
||
Wellman JA,
|
||
Chung DC,
|
||
Yu ZF,
|
||
Tillman A,
|
||
Wittes J,
|
||
Pappas J,
|
||
Elci O,
|
||
McCague S,
|
||
Cross D,
|
||
Marshall KA,
|
||
Walshire J,
|
||
Kehoe TL,
|
||
Reichert H,
|
||
Davis M,
|
||
Raffini L,
|
||
George LA,
|
||
Hudson FP,
|
||
Dingfield L,
|
||
Zhu X,
|
||
Haller JA,
|
||
Sohn EH,
|
||
Mahajan VB,
|
||
Pfeifer W,
|
||
Weckmann M,
|
||
Johnson C,
|
||
Gewaily D,
|
||
Drack A,
|
||
Stone E,
|
||
Wachtel K,
|
||
Simonelli F,
|
||
Leroy BP,
|
||
Wright JF,
|
||
High KA,
|
||
Maguire AM</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2017 Aug 26;390(10097):849-860.
|
||
Epub 2017 Jul 14
|
||
doi: 10.1016/S0140-6736(17)31868-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28712537" target="_blank">28712537</a><a href="/pmc/articles/PMC5726391" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22713813">Bardet-Biedl syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Forsythe E,
|
||
Beales PL</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2013 Jan;21(1):8-13.
|
||
Epub 2012 Jun 20
|
||
doi: 10.1038/ejhg.2012.115.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22713813" target="_blank">22713813</a><a href="/pmc/articles/PMC3522196" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20dystrophy%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (874)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36825473">Gene therapy for alpha-1 antitrypsin deficiency: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pires Ferreira D,
|
||
Gruntman AM,
|
||
Flotte TR</span><br />
|
||
<span class="medgenPMjournal">Expert Opin Biol Ther</span>
|
||
2023 Mar;23(3):283-291.
|
||
Epub 2023 Mar 2
|
||
doi: 10.1080/14712598.2023.2183771.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36825473" target="_blank">36825473</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31443789">Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation-Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 Trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maguire AM,
|
||
Russell S,
|
||
Wellman JA,
|
||
Chung DC,
|
||
Yu ZF,
|
||
Tillman A,
|
||
Wittes J,
|
||
Pappas J,
|
||
Elci O,
|
||
Marshall KA,
|
||
McCague S,
|
||
Reichert H,
|
||
Davis M,
|
||
Simonelli F,
|
||
Leroy BP,
|
||
Wright JF,
|
||
High KA,
|
||
Bennett J</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2019 Sep;126(9):1273-1285.
|
||
Epub 2019 Jun 22
|
||
doi: 10.1016/j.ophtha.2019.06.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31443789" target="_blank">31443789</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29635265">Voretigene neparvovec-rzyl (Luxturna) for inherited retinal dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Med Lett Drugs Ther</span>
|
||
2018 Mar 26;60(1543):53-55.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29635265" target="_blank">29635265</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29042326">The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Athanasiou D,
|
||
Aguila M,
|
||
Bellingham J,
|
||
Li W,
|
||
McCulley C,
|
||
Reeves PJ,
|
||
Cheetham ME</span><br />
|
||
<span class="medgenPMjournal">Prog Retin Eye Res</span>
|
||
2018 Jan;62:1-23.
|
||
Epub 2017 Oct 16
|
||
doi: 10.1016/j.preteyeres.2017.10.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29042326" target="_blank">29042326</a><a href="/pmc/articles/PMC5779616" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28712537">Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Russell S,
|
||
Bennett J,
|
||
Wellman JA,
|
||
Chung DC,
|
||
Yu ZF,
|
||
Tillman A,
|
||
Wittes J,
|
||
Pappas J,
|
||
Elci O,
|
||
McCague S,
|
||
Cross D,
|
||
Marshall KA,
|
||
Walshire J,
|
||
Kehoe TL,
|
||
Reichert H,
|
||
Davis M,
|
||
Raffini L,
|
||
George LA,
|
||
Hudson FP,
|
||
Dingfield L,
|
||
Zhu X,
|
||
Haller JA,
|
||
Sohn EH,
|
||
Mahajan VB,
|
||
Pfeifer W,
|
||
Weckmann M,
|
||
Johnson C,
|
||
Gewaily D,
|
||
Drack A,
|
||
Stone E,
|
||
Wachtel K,
|
||
Simonelli F,
|
||
Leroy BP,
|
||
Wright JF,
|
||
High KA,
|
||
Maguire AM</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2017 Aug 26;390(10097):849-860.
|
||
Epub 2017 Jul 14
|
||
doi: 10.1016/S0140-6736(17)31868-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28712537" target="_blank">28712537</a><a href="/pmc/articles/PMC5726391" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20dystrophy%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (117)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36825473">Gene therapy for alpha-1 antitrypsin deficiency: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pires Ferreira D,
|
||
Gruntman AM,
|
||
Flotte TR</span><br />
|
||
<span class="medgenPMjournal">Expert Opin Biol Ther</span>
|
||
2023 Mar;23(3):283-291.
|
||
Epub 2023 Mar 2
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<div class="nl"><a target="_blank" href="/pubmed/28041643">Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.</a></div>
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Clement E,
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Allen L,
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Armstrong R,
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Brady AF,
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Carmichael J,
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Chitre M,
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Henderson RHH,
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Hurst J,
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MacLaren RE,
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Murphy E,
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Paterson J,
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Rosser E,
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Thompson DA,
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Wakeling E,
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Ouwehand WH,
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Michaelides M,
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Moore AT;
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NIHR-BioResource Rare Diseases Consortium,
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Webster AR,
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Raymond FL</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/22713813">Bardet-Biedl syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Forsythe E,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20dystrophy%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (425)</a></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/40072800">Efficacy and safety of mesenchymal stem cell therapies in retinitis pigmentosa: a systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Krungkraipetch L,
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Supajitgulchai D,
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Assawaboonyadech A,
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||
<span class="bold">PMID: </span><a href="/pubmed/40072800" target="_blank">40072800</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37628579">Clinical and Genetic Features of NR2E3-Associated Retinopathy: A Report of Eight Families with a Longitudinal Study and Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xiao S,
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Yi Z,
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Xiao X,
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Li S,
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Jia X,
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Lian P,
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Sun W,
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Wang P,
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Lu L,
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Zhang Q</span><br />
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||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Jul 26;14(8)
|
||
doi: 10.3390/genes14081525.
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||
<span class="bold">PMID: </span><a href="/pubmed/37628579" target="_blank">37628579</a><a href="/pmc/articles/PMC10454055" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36981008">Comparing Gene Panels for Non-Retinal Indications: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Procopio R,
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Pulido JS,
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Gunton KB,
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Syed ZA,
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Lee D,
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Moster ML,
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Sergott R,
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Neidich JA,
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Reynolds MM</span><br />
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<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Mar 17;14(3)
|
||
doi: 10.3390/genes14030738.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36981008" target="_blank">36981008</a><a href="/pmc/articles/PMC10047970" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35525811">Neurological manifestations in mevalonate kinase deficiency: A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Elhani I,
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Hentgen V,
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Grateau G,
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<span class="medgenPMjournal">Mol Genet Metab</span>
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||
2022 Jun;136(2):85-93.
|
||
Epub 2022 Apr 30
|
||
doi: 10.1016/j.ymgme.2022.04.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35525811" target="_blank">35525811</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34906485">The safety and efficacy of gene therapy treatment for monogenic retinal and optic nerve diseases: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Britten-Jones AC,
|
||
Jin R,
|
||
Gocuk SA,
|
||
Cichello E,
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||
O'Hare F,
|
||
Hickey DG,
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||
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|
||
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<span class="medgenPMjournal">Genet Med</span>
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||
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||
Epub 2021 Nov 30
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||
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|
||
<span class="bold">PMID: </span><a href="/pubmed/34906485" target="_blank">34906485</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20dystrophy%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div></div>
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||
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|
||
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0854723%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (16)</a></li>
|
||
<li><a href="/gtr/tests?term=C0854723%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0854723%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C0854723%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (22)</a></li>
|
||
<li><a href="/gtr/tests?term=C0854723%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0854723%5bDISCUI%5d" target="_blank">See all (22)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22retinal%20dystrophy%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Retinal%20dystrophy%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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