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<meta name="keywords" content="C0431399, agenesis of cerebellar vermis, cep41, cerebellar vermis agenesis, cerebello-oculo-renal syndrome, cerebelloparenchymal disorder 4, cerebelloparenchymal disorder iv, classic joubert syndrome, cpd iv, cpd4, cplane1, disease or syndrome, familial aplasia of the vermis, jbts, joubert syndrome, joubert syndrome type a, joubert-boltshauser syndrome, pure joubert syndrome, rpgrip1l, tctn2, tctn3, tmem138, tmem231, tmem237, ttc21b, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="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." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=98464
|
||
ConceptID=C0431399
|
||
-->
|
||
<!--imgCountBooks = 2--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (2)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1325/bin/joubert-Image001.gif" src-large="/books/NBK1325/bin/joubert-Image001.jpg" /></a><br /><a href="/books/NBK1325/figure/joubert.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1325/bin/joubert-Image002.gif" src-large="/books/NBK1325/bin/joubert-Image002.jpg" /></a><br /><a href="/books/NBK1325/figure/joubert.F2/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Familial aplasia of the vermis<span class="h1sub">(CPD4; JBTS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98464</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.">C0431399</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Cerebelloparenchymal disorder 4; CEREBELLOPARENCHYMAL DISORDER IV; Joubert syndrome; JOUBERT-BOLTSHAUSER SYNDROME</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Joubert syndrome (716997004); Familial aplasia of the vermis (253175003)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Genes (locations):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="CEP41 - ID: 95681 - NCBI Gene" href="/gene/95681" class="medgenPMinfo">CEP41</a> (7q32.2); <a target="_blank" title="CPLANE1 - ID: 65250 - NCBI Gene" href="/gene/65250" class="medgenPMinfo">CPLANE1</a> (5p13.2); <a target="_blank" title="RPGRIP1L - ID: 23322 - NCBI Gene" href="/gene/23322" class="medgenPMinfo">RPGRIP1L</a> (16q12.2); <a target="_blank" title="TCTN2 - ID: 79867 - NCBI Gene" href="/gene/79867" class="medgenPMinfo">TCTN2</a> (12q24.31); <a target="_blank" title="TCTN3 - ID: 26123 - NCBI Gene" href="/gene/26123" class="medgenPMinfo">TCTN3</a> (10q24.1); <a target="_blank" title="TMEM138 - ID: 51524 - NCBI Gene" href="/gene/51524" class="medgenPMinfo">TMEM138</a> (11q12.2); <a target="_blank" title="TMEM231 - ID: 79583 - NCBI Gene" href="/gene/79583" class="medgenPMinfo">TMEM231</a> (16q23.1); <a target="_blank" title="TMEM237 - ID: 65062 - NCBI Gene" href="/gene/65062" class="medgenPMinfo">TMEM237</a> (2q33.1); <a target="_blank" title="TTC21B - ID: 79809 - NCBI Gene" href="/gene/79809" class="medgenPMinfo">TTC21B</a> (2q24.3)</td></tr>
|
||
<tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/374654">KIF7</a>, <a target="_blank" href="/gene/200894">ARL13B</a>, <a target="_blank" href="/gene/91147">TMEM67</a>, <a target="_blank" href="/gene/80184">CEP290</a>, <a target="_blank" href="/gene/79600">TCTN1</a>, <a target="_blank" href="/gene/57545">CC2D2A</a>, <a target="_blank" href="/gene/56623">INPP5E</a>, <a target="_blank" href="/gene/54806">AHI1</a>, <a target="_blank" href="/gene/51259">TMEM216</a>, <a target="_blank" href="/gene/8481">OFD1</a>, <a target="_blank" href="/gene/4867">NPHP1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0018772" target="_blank">MONDO:0018772</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/213300" target="_blank">213300</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS213300" target="_blank">PS213300</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=475">ORPHA475</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>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1325" target="_blank">Joubert Syndrome</a></div><div>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. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1325#joubert.Summary" target="NBK1325">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1325#joubert.Diagnosis" target="NBK1325">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1325#joubert.Clinical_Characteristics" target="NBK1325">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1325#joubert.Genetically_Related_Disorders" target="NBK1325">Genetically Related Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1325#joubert.Differential_Diagnosis" target="NBK1325">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1325#joubert.Management" target="NBK1325">Management</a> | <a class="medgenPMinfo" href="/books/NBK1325#joubert.Genetic_Counseling" target="NBK1325">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1325#joubert.Resources" target="NBK1325">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1325#joubert.Molecular_Genetics" target="NBK1325">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1325#joubert.Chapter_Notes" target="NBK1325">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1325#joubert.References" target="NBK1325">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Melissa Parisi | Ian Glass <a href="/books/NBK1325" target="NBK1325" title="NCBI Bookshelf: Joubert Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From GeneReviews Overview</strong><br />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="mgSection"><strong>From MedlinePlus Genetics</strong><br />Joubert syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.<br /><br />The hallmark feature of Joubert syndrome is a combination of brain abnormalities that together are known as the molar tooth sign, which can be seen on brain imaging studies such as magnetic resonance imaging (MRI). This sign results from the abnormal development of structures near the back of the brain, including the cerebellar vermis and the brainstem. The molar tooth sign got its name because the characteristic brain abnormalities resemble the cross-section of a molar tooth when seen on an MRI.<br /><br />Most infants with Joubert syndrome have low muscle tone (hypotonia) in infancy, which contributes to difficulty coordinating movements (ataxia) in early childhood. Other characteristic features of the condition include episodes of unusually fast (hyperpnea) or slow (apnea) breathing in infancy, and abnormal eye movements (ocular motor apraxia). Most affected individuals have delayed development and intellectual disability, which can range from mild to severe. Distinctive facial features can also occur in Joubert syndrome; these include a broad forehead, arched eyebrows, droopy eyelids (ptosis), widely spaced eyes (hypertelorism), low-set ears, and a triangle-shaped mouth.<br /><br />Joubert syndrome can include a broad range of additional signs and symptoms. The condition is sometimes associated with other eye abnormalities (such as retinal dystrophy, which can cause vision loss, and coloboma, which is a gap or split in a structure of the eye), kidney disease (including polycystic kidney disease and nephronophthisis), liver disease, skeletal abnormalities (such as the presence of extra fingers and toes), or hormone (endocrine) problems. A combination of the characteristic features of Joubert syndrome and one or more of these additional signs and symptoms once characterized several separate disorders. Together, those disorders were referred to as Joubert syndrome and related disorders (JSRD). Now, however, any instances that involve the molar tooth sign, including those with these additional signs and symptoms, are usually considered Joubert syndrome. <a target="_blank" href="https://medlineplus.gov/genetics/condition/joubert-syndrome">https://medlineplus.gov/genetics/condition/joubert-syndrome</a></div></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=C0431399[DISCUI]&test_type=Clinical" ref="ncbi_uid=98464">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0431399[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=98464">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=98464" target="_blank" href="/omim/213300">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1325/" ref="ncbi_uid=98464">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=98464" ref="ncbi_uid=98464">V</a></span></span><span class="TLline">Familial aplasia of the vermis</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0796147[DISCUI]&test_type=Clinical" ref="ncbi_uid=162915">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=162915" target="_blank" href="/omim/200990">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1325/" ref="ncbi_uid=162915">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=162915" ref="ncbi_uid=162915">V</a></span></span><span class="TLline"><a href="/medgen/162915" ref="tree=GTR&ncbi_uid=162915&link_uid=162915" title="View MedGen record for 'Acrocallosal syndrome'">Acrocallosal syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551568[DISCUI]&test_type=Clinical" ref="ncbi_uid=1644883">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1644883" target="_blank" href="/omim/213300">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1325/" ref="ncbi_uid=1644883">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1644883" ref="ncbi_uid=1644883">V</a></span></span><span class="TLline"><a href="/medgen/1644883" ref="tree=GTR&ncbi_uid=1644883&link_uid=1644883" title="View MedGen record for 'Joubert syndrome 1'">Joubert syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842577[DISCUI]&test_type=Clinical" ref="ncbi_uid=334114">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334114" target="_blank" href="/omim/608091">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1325/" ref="ncbi_uid=334114">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=334114" ref="ncbi_uid=334114">V</a></span></span><span class="TLline"><a href="/medgen/334114" ref="tree=GTR&ncbi_uid=334114&link_uid=334114" title="View MedGen record for 'Joubert syndrome 2'">Joubert syndrome 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837713[DISCUI]&test_type=Clinical" ref="ncbi_uid=332931">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=332931" target="_blank" href="/omim/608629">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1325/" ref="ncbi_uid=332931">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=332931" ref="ncbi_uid=332931">V</a></span></span><span class="TLline"><a href="/medgen/332931" ref="tree=GTR&ncbi_uid=332931&link_uid=332931" title="View MedGen record for 'Joubert syndrome 3'">Joubert syndrome 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1857780[DISCUI]&test_type=Clinical" ref="ncbi_uid=347545">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=347545" target="_blank" href="/omim/610142">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1325/" ref="ncbi_uid=347545">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=347545" ref="ncbi_uid=347545">V</a></span></span><span class="TLline"><a href="/medgen/347545" ref="tree=GTR&ncbi_uid=347545&link_uid=347545" title="View MedGen record for 'Joubert syndrome 5'">Joubert syndrome 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853153[DISCUI]&test_type=Clinical" ref="ncbi_uid=342805">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=342805" target="_blank" href="/omim/609884">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1325/" ref="ncbi_uid=342805">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=342805" ref="ncbi_uid=342805">V</a></span></span><span class="TLline"><a href="/medgen/342805" ref="tree=GTR&ncbi_uid=342805&link_uid=342805" title="View MedGen record for 'Joubert syndrome 6'">Joubert syndrome 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1969053[DISCUI]&test_type=Clinical" ref="ncbi_uid=369401">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=369401" target="_blank" href="/omim/610937">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1325/" ref="ncbi_uid=369401">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=369401" ref="ncbi_uid=369401">V</a></span></span><span class="TLline"><a href="/medgen/369401" ref="tree=GTR&ncbi_uid=369401&link_uid=369401" title="View MedGen record for 'Joubert syndrome 7'">Joubert syndrome 7</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2676771[DISCUI]&test_type=Clinical" ref="ncbi_uid=436772">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=436772" target="_blank" href="/omim/608922">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1325/" ref="ncbi_uid=436772">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=436772" ref="ncbi_uid=436772">V</a></span></span><span class="TLline"><a href="/medgen/436772" ref="tree=GTR&ncbi_uid=436772&link_uid=436772" title="View MedGen record for 'Joubert syndrome 8'">Joubert syndrome 8</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2676788[DISCUI]&test_type=Clinical" ref="ncbi_uid=382940">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=382940" target="_blank" href="/omim/612013">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1325/" ref="ncbi_uid=382940">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=382940" ref="ncbi_uid=382940">V</a></span></span><span class="TLline"><a href="/medgen/382940" ref="tree=GTR&ncbi_uid=382940&link_uid=382940" title="View MedGen record for 'Joubert syndrome 9'">Joubert syndrome 9</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2749019[DISCUI]&test_type=Clinical" ref="ncbi_uid=440688">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=440688" target="_blank" href="/omim/300170">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1325/" ref="ncbi_uid=440688">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=440688" ref="ncbi_uid=440688">V</a></span></span><span class="TLline"><a href="/medgen/440688" ref="tree=GTR&ncbi_uid=440688&link_uid=440688" title="View MedGen record for 'Joubert syndrome 10'">Joubert syndrome 10</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280031[DISCUI]&test_type=Clinical" ref="ncbi_uid=481661">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481661" target="_blank" href="/omim/609863">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1325/" ref="ncbi_uid=481661">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481661" ref="ncbi_uid=481661">V</a></span></span><span class="TLline"><a href="/medgen/481661" ref="tree=GTR&ncbi_uid=481661&link_uid=481661" title="View MedGen record for 'Joubert syndrome 13'">Joubert syndrome 13</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280766[DISCUI]&test_type=Clinical" ref="ncbi_uid=482396">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=482396" target="_blank" href="/omim/614423">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1325/" ref="ncbi_uid=482396">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=482396" ref="ncbi_uid=482396">V</a></span></span><span class="TLline"><a href="/medgen/482396" ref="tree=GTR&ncbi_uid=482396&link_uid=482396" title="View MedGen record for 'Joubert syndrome 14'">Joubert syndrome 14</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1846790[DISCUI]&test_type=Clinical" ref="ncbi_uid=335526">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335526" target="_blank" href="/omim/607100">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1325/" ref="ncbi_uid=335526">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=335526" ref="ncbi_uid=335526">V</a></span></span><span class="TLline"><a href="/medgen/335526" ref="tree=GTR&ncbi_uid=335526&link_uid=335526" title="View MedGen record for 'Joubert syndrome with renal defect'">Joubert syndrome with renal defect</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1826007" ref="tree=MeSH" title="MedGen record for Joubert syndrome and related disorders">Joubert syndrome and related disorders</a></span><ul><li><span class="matched_ds">Familial aplasia of the vermis</span><ul><li><span class="TLline"><a href="/medgen/162915" ref="tree=MeSH" title="MedGen record for Acrocallosal syndrome">Acrocallosal syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1644883" ref="tree=MeSH" title="MedGen record for Joubert syndrome 1">Joubert syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/334114" ref="tree=MeSH" title="MedGen record for Joubert syndrome 2">Joubert syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/332931" ref="tree=MeSH" title="MedGen record for Joubert syndrome 3">Joubert syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/347545" ref="tree=MeSH" title="MedGen record for Joubert syndrome 5">Joubert syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/342805" ref="tree=MeSH" title="MedGen record for Joubert syndrome 6">Joubert syndrome 6</a></span></li><li><span class="TLline"><a href="/medgen/369401" ref="tree=MeSH" title="MedGen record for Joubert syndrome 7">Joubert syndrome 7</a></span></li><li><span class="TLline"><a href="/medgen/436772" ref="tree=MeSH" title="MedGen record for Joubert syndrome 8">Joubert syndrome 8</a></span></li><li><span class="TLline"><a href="/medgen/382940" ref="tree=MeSH" title="MedGen record for Joubert syndrome 9">Joubert syndrome 9</a></span></li><li><span class="TLline"><a href="/medgen/440688" ref="tree=MeSH" title="MedGen record for Joubert syndrome 10">Joubert syndrome 10</a></span></li><li><span class="TLline"><a href="/medgen/481661" ref="tree=MeSH" title="MedGen record for Joubert syndrome 13">Joubert syndrome 13</a></span></li><li><span class="TLline"><a href="/medgen/482396" ref="tree=MeSH" title="MedGen record for Joubert syndrome 14">Joubert syndrome 14</a></span></li><li><span class="TLline"><a href="/medgen/766178" ref="tree=MeSH" title="MedGen record for Joubert syndrome 17">Joubert syndrome 17</a></span></li><li><span class="TLline"><a href="/medgen/335526" ref="tree=MeSH" title="MedGen record for Joubert syndrome with renal defect">Joubert syndrome with renal defect</a></span></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/36803942">Joubert syndrome: Molecular basis and treatment.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Spahiu L,
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Behluli E,
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Grajçevci-Uka V,
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Liehr T,
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Temaj G</span><br />
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<span class="medgenPMjournal">J Mother Child</span>
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2022 Mar 1;26(1):118-123.
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Epub 2023 Feb 22
|
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doi: 10.34763/jmotherandchild.20222601.d-22-00034.
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/35238134">Genotype-phenotype correlates in Joubert syndrome: A review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gana S,
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Serpieri V,
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Valente EM</span><br />
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<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
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2022 Mar;190(1):72-88.
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Epub 2022 Mar 3
|
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doi: 10.1002/ajmg.c.31963.
|
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/33942916">Prenatal diagnosis of rhombencephalosynapsis: neuroimaging features and severity of vermian anomaly.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Krajden Haratz K,
|
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Oliveira Szejnfeld P,
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Govindaswamy M,
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Leibovitz Z,
|
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Gindes L,
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Severino M,
|
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Rossi A,
|
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Paladini D,
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Garcia Rodriguez R,
|
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Ben-Sira L,
|
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Borkowski Tillman T,
|
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Gupta R,
|
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Lotem G,
|
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Raz N,
|
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Hamamoto TENK,
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Kidron D,
|
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Arad A,
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Birnbaum R,
|
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Brussilov M,
|
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Pomar L,
|
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Vial Y,
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Leventer RJ,
|
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McGillivray G,
|
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Fink M,
|
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Krzeszowski W,
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Fernandes Moron A,
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Lev D,
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Tamarkin M,
|
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Shalev J,
|
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Har Toov J,
|
||
Lerman-Sagie T,
|
||
Malinger G</span><br />
|
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<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
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2021 Dec;58(6):864-874.
|
||
doi: 10.1002/uog.23660.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33942916" target="_blank">33942916</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(familial%20aplasia%20of%20the%20vermis)%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 (13)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/21448235">Clinical utility gene card for: Joubert syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Valente EM,
|
||
Brancati F,
|
||
Boltshauser E,
|
||
Dallapiccola B</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2011 Sep;19(9)
|
||
Epub 2011 Mar 30
|
||
doi: 10.1038/ejhg.2011.49.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21448235" target="_blank">21448235</a><a href="/pmc/articles/PMC3179357" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div><h3 class="nl vspace"><a href="http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/Carrier-Screening-ACT-SheetAshkenazi-Jewish-Genetic-Disorders.aspx" target="_blank">American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders</a></h3>
|
||
</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/34674207">Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meoded A,
|
||
Kukreja M,
|
||
Orman G,
|
||
Boltshauser E,
|
||
Huisman TAGM</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
2022 Jun;53(3):195-199.
|
||
Epub 2021 Oct 21
|
||
doi: 10.1055/s-0041-1732310.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34674207" target="_blank">34674207</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33039432">Ciliopathies and the Kidney: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McConnachie DJ,
|
||
Stow JL,
|
||
Mallett AJ</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2021 Mar;77(3):410-419.
|
||
Epub 2020 Oct 9
|
||
doi: 10.1053/j.ajkd.2020.08.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33039432" target="_blank">33039432</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26167768">An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wheway G,
|
||
Schmidts M,
|
||
Mans DA,
|
||
Szymanska K,
|
||
Nguyen TT,
|
||
Racher H,
|
||
Phelps IG,
|
||
Toedt G,
|
||
Kennedy J,
|
||
Wunderlich KA,
|
||
Sorusch N,
|
||
Abdelhamed ZA,
|
||
Natarajan S,
|
||
Herridge W,
|
||
van Reeuwijk J,
|
||
Horn N,
|
||
Boldt K,
|
||
Parry DA,
|
||
Letteboer SJF,
|
||
Roosing S,
|
||
Adams M,
|
||
Bell SM,
|
||
Bond J,
|
||
Higgins J,
|
||
Morrison EE,
|
||
Tomlinson DC,
|
||
Slaats GG,
|
||
van Dam TJP,
|
||
Huang L,
|
||
Kessler K,
|
||
Giessl A,
|
||
Logan CV,
|
||
Boyle EA,
|
||
Shendure J,
|
||
Anazi S,
|
||
Aldahmesh M,
|
||
Al Hazzaa S,
|
||
Hegele RA,
|
||
Ober C,
|
||
Frosk P,
|
||
Mhanni AA,
|
||
Chodirker BN,
|
||
Chudley AE,
|
||
Lamont R,
|
||
Bernier FP,
|
||
Beaulieu CL,
|
||
Gordon P,
|
||
Pon RT,
|
||
Donahue C,
|
||
Barkovich AJ,
|
||
Wolf L,
|
||
Toomes C,
|
||
Thiel CT,
|
||
Boycott KM,
|
||
McKibbin M,
|
||
Inglehearn CF;
|
||
UK10K Consortium;
|
||
University of Washington Center for Mendelian Genomics,
|
||
Stewart F,
|
||
Omran H,
|
||
Huynen MA,
|
||
Sergouniotis PI,
|
||
Alkuraya FS,
|
||
Parboosingh JS,
|
||
Innes AM,
|
||
Willoughby CE,
|
||
Giles RH,
|
||
Webster AR,
|
||
Ueffing M,
|
||
Blacque O,
|
||
Gleeson JG,
|
||
Wolfrum U,
|
||
Beales PL,
|
||
Gibson T,
|
||
Doherty D,
|
||
Mitchison HM,
|
||
Roepman R,
|
||
Johnson CA</span><br />
|
||
<span class="medgenPMjournal">Nat Cell Biol</span>
|
||
2015 Aug;17(8):1074-1087.
|
||
Epub 2015 Jul 13
|
||
doi: 10.1038/ncb3201.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26167768" target="_blank">26167768</a><a href="/pmc/articles/PMC4536769" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26092869">Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bachmann-Gagescu R,
|
||
Dempsey JC,
|
||
Phelps IG,
|
||
O'Roak BJ,
|
||
Knutzen DM,
|
||
Rue TC,
|
||
Ishak GE,
|
||
Isabella CR,
|
||
Gorden N,
|
||
Adkins J,
|
||
Boyle EA,
|
||
de Lacy N,
|
||
O'Day D,
|
||
Alswaid A,
|
||
Ramadevi A R,
|
||
Lingappa L,
|
||
Lourenço C,
|
||
Martorell L,
|
||
Garcia-Cazorla À,
|
||
Ozyürek H,
|
||
Haliloğlu G,
|
||
Tuysuz B,
|
||
Topçu M;
|
||
University of Washington Center for Mendelian Genomics,
|
||
Chance P,
|
||
Parisi MA,
|
||
Glass IA,
|
||
Shendure J,
|
||
Doherty D</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2015 Aug;52(8):514-22.
|
||
Epub 2015 Jun 19
|
||
doi: 10.1136/jmedgenet-2015-103087.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26092869" target="_blank">26092869</a><a href="/pmc/articles/PMC5082428" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20aplasia%20of%20the%20vermis%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 (95)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<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 class="nl"><a target="_blank" href="/pubmed/30842404">Joubert Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alenizi A,
|
||
Hundallah K</span><br />
|
||
<span class="medgenPMjournal">Neurosciences (Riyadh)</span>
|
||
2019 Jan;24(1):63-65.
|
||
doi: 10.17712/nsj.2019.1.20190062.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30842404" target="_blank">30842404</a><a href="/pmc/articles/PMC8015541" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28604212">Joubert syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crawford D,
|
||
Dearmun A</span><br />
|
||
<span class="medgenPMjournal">Nurs Child Young People</span>
|
||
2017 Jun 12;29(5):15.
|
||
doi: 10.7748/ncyp.29.5.15.s19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28604212" target="_blank">28604212</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26092869">Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bachmann-Gagescu R,
|
||
Dempsey JC,
|
||
Phelps IG,
|
||
O'Roak BJ,
|
||
Knutzen DM,
|
||
Rue TC,
|
||
Ishak GE,
|
||
Isabella CR,
|
||
Gorden N,
|
||
Adkins J,
|
||
Boyle EA,
|
||
de Lacy N,
|
||
O'Day D,
|
||
Alswaid A,
|
||
Ramadevi A R,
|
||
Lingappa L,
|
||
Lourenço C,
|
||
Martorell L,
|
||
Garcia-Cazorla À,
|
||
Ozyürek H,
|
||
Haliloğlu G,
|
||
Tuysuz B,
|
||
Topçu M;
|
||
University of Washington Center for Mendelian Genomics,
|
||
Chance P,
|
||
Parisi MA,
|
||
Glass IA,
|
||
Shendure J,
|
||
Doherty D</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2015 Aug;52(8):514-22.
|
||
Epub 2015 Jun 19
|
||
doi: 10.1136/jmedgenet-2015-103087.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26092869" target="_blank">26092869</a><a href="/pmc/articles/PMC5082428" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20aplasia%20of%20the%20vermis%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 (194)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37965976">The role of liver transplantation in COACH syndrome (Joubert syndrome with congenital hepatic fibrosis): A review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen L,
|
||
Uchida H,
|
||
Komine R,
|
||
Kodama T,
|
||
Nakao T,
|
||
Okada N,
|
||
Yanagi Y,
|
||
Shimizu S,
|
||
Abbas S,
|
||
Fukuda A,
|
||
Sakamoto S,
|
||
Kasahara M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Transplant</span>
|
||
2024 Feb;28(1):e14640.
|
||
Epub 2023 Nov 15
|
||
doi: 10.1111/petr.14640.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37965976" target="_blank">37965976</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32764531">Total Intravenous Anesthesia in Joubert Syndrome Patient for Otorhinolaryngology Surgery: A Case Report and Mini Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kloka J,
|
||
Blum LV,
|
||
Piekarski F,
|
||
Zacharowski K,
|
||
Raimann FJ</span><br />
|
||
<span class="medgenPMjournal">Am J Case Rep</span>
|
||
2020 Aug 7;21:e923018.
|
||
doi: 10.12659/AJCR.923018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32764531" target="_blank">32764531</a><a href="/pmc/articles/PMC7440750" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29102615">Rendezvous Biliary Recanalization of Complete Biliary Obstruction With Direct Peroral and Percutaneous Transhepatic Cholangioscopy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bukhari MA,
|
||
Haito-Chavez Y,
|
||
Ngamruengphong S,
|
||
Brewer Gutierrez O,
|
||
Chen YI,
|
||
Khashab MA</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2018 Jan;154(1):23-25.
|
||
Epub 2017 Nov 2
|
||
doi: 10.1053/j.gastro.2017.09.050.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29102615" target="_blank">29102615</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27718087">When is biopsy-proven TIN not simply TIN? Questions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ware N,
|
||
Sebire NJ,
|
||
Chong WK,
|
||
Krishnan R,
|
||
Marks SD</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2017 Jun;32(6):975-976.
|
||
Epub 2016 Oct 7
|
||
doi: 10.1007/s00467-016-3465-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27718087" target="_blank">27718087</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23965207">Anesthetic management of an infant with Joubert syndrome for cardiac surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bhaskar P,
|
||
John J,
|
||
Sivamurthy SK,
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Lone RA,
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<div class="nl"><a target="_blank" href="/pubmed/38351681">High Incidence of CPLANE1-Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bozhinovski G,
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<div class="portlet_content ln"><span class="medgenPMauthor">Gana S,
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<div class="nl"><a target="_blank" href="/pubmed/34675124">SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Serpieri V,
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<div class="nl"><a target="_blank" href="/pubmed/33168220">Dandy-Walker Malformation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Society for Maternal-Fetal Medicine (SMFM),
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Monteagudo A</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/33168220" target="_blank">33168220</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20aplasia%20of%20the%20vermis%22%20AND%20Prognosis%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 (54)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38949024">Primary cilia formation requires the Leigh syndrome-associated mitochondrial protein NDUFAF2.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lo CH,
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Liu Z,
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<div class="nl"><a target="_blank" href="/pubmed/36580738">Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.</a></div>
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University of Washington Center for Mendelian Genomics,
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Stewart F,
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Huynen MA,
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<div class="portlet_content ln"><span class="medgenPMauthor">Bachmann-Gagescu R,
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Ozyürek H,
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Haliloğlu G,
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Tuysuz B,
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Topçu M;
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Chance P,
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<span class="bold">PMID: </span><a href="/pubmed/26092869" target="_blank">26092869</a><a href="/pmc/articles/PMC5082428" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20aplasia%20of%20the%20vermis%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 (75)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
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|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0431399%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (60)</a></li>
|
||
<li><a href="/gtr/tests?term=C0431399%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0431399%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0431399%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0431399%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (67)</a></li>
|
||
<li><a href="/gtr/tests?term=C0431399%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (7)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0431399%5bDISCUI%5d" target="_blank">See all (73)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
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|
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS213300" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=475" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Familial%20aplasia%20of%20the%20vermis" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
|
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|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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=(familial%20aplasia%20of%20the%20vermis)%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></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/Carrier-Screening-ACT-SheetAshkenazi-Jewish-Genetic-Disorders.aspx">ACMG ACT, 2011</a><div>American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders</div></li><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov//21448235/">EuroGenetest, 2011</a><div>Clinical utility gene card for: Joubert syndrome.</div></li></ul></div>
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=610523%20610937%20612014%20613846%20613847%20614423%20614459%20614571%20614949" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=23322[geneid]" target="_blank">View RPGRIP1L variations in ClinVar</a></li><li><a href="/clinvar/?term=26123[geneid]" target="_blank">View TCTN3 variations in ClinVar</a></li><li><a href="/clinvar/?term=51524[geneid]" target="_blank">View TMEM138 variations in ClinVar</a></li><li><a href="/clinvar/?term=65062[geneid]" target="_blank">View TMEM237 variations in ClinVar</a></li><li><a href="/clinvar/?term=65250[geneid]" target="_blank">View CPLANE1 variations in ClinVar</a></li><li><a href="/clinvar/?term=79583[geneid]" target="_blank">View TMEM231 variations in ClinVar</a></li><li><a href="/clinvar/?term=79809[geneid]" target="_blank">View TTC21B variations in ClinVar</a></li><li><a href="/clinvar/?term=79867[geneid]" target="_blank">View TCTN2 variations in ClinVar</a></li><li><a href="/clinvar/?term=95681[geneid]" target="_blank">View CEP41 variations in ClinVar</a></li><li><a href="/nuccore/212549772" target="_blank">RefSeqGene</a></li></ul></div>
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</div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/joubert_syndrome_1_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Familial%20aplasia%20of%20the%20vermis" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/joubert-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/6802/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=98464" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=98464" ref="log$=recordlinks">PubMed (OMIM)</a>
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