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<meta name="keywords" content="C3280897, cep41, cep41 joubert syndrome, cep41-related joubert syndrome, disease or syndrome, jbts15, joubert syndrome 12/15, digenic, joubert syndrome 15, joubert syndrome 9/15, digenic, joubert syndrome caused by mutation in cep41, joubert syndrome type 15, 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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<!--
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||
UID=482527
|
||
ConceptID=C3280897
|
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-->
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<!--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">Joubert syndrome 15<span class="h1sub">(JBTS15)</span></div></h1><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."><span class="highlight" style="background-color:">C3280897</span></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>CEP41-Related Joubert Syndrome; JBTS15</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">Gene (location):<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)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013763" target="_blank">MONDO:0013763</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/614464" target="_blank">614464</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_101">
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||
<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 OMIM</strong><br />Joubert syndrome-15 (JBTS15) is an autosomal recessive developmental disorder characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation. Other features, such as polydactyly, breathing abnormalities, and oculomotor apraxia, are variable (summary by Lee et al., 2012).
|
||
For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. <a target="_blank" href="http://www.omim.org/entry/614464">http://www.omim.org/entry/614464</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_78596"><div><strong>Ambiguous genitalia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78596</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.">C0266362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78596">Feature record</a> | <a href="/medgen?term=%22Ambiguous%20genitalia%22%5BClinical%20Features%5D%20OR%2078596%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_146912"><div><strong>Nephronophthisis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>146912</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.">C0687120</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. Three age-based clinical subtypes are recognized: infantile, juvenile, and adolescent/adult. Infantile NPH can present in utero with oligohydramnios sequence (limb contractures, pulmonary hypoplasia, and facial dysmorphisms) or postnatally with renal manifestations that progress to ESRD before age 3 years. Juvenile NPH, the most prevalent subtype, typically presents with polydipsia and polyuria, growth retardation, chronic iron-resistant anemia, or other findings related to chronic kidney disease (CKD). Hypertension is typically absent due to salt wasting. ESRD develops at a median age of 13 years. Ultrasound findings are increased echogenicity, reduced corticomedullary differentiation, and renal cysts (in 50% of affected individuals). Histologic findings include tubulointerstitial fibrosis, thickened and disrupted tubular basement membrane, sporadic corticomedullary cysts, and normal or reduced kidney size. Adolescent/adult NPH is clinically similar to juvenile NPH, but ESRD develops at a median age of 19 years. Within a subtype, inter- and intrafamilial variability in rate of progression to ESRD is considerable. Approximately 80%-90% of individuals with the NPH phenotype have no extrarenal features (i.e., they have isolated NPH); ~10%-20% have extrarenal manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and related skeletal disorders, Meckel-Gruber syndrome, Senior-Løken syndrome, Leber congenital amaurosis, COACH syndrome, and oculomotor apraxia, Cogan type).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/146912">Feature record</a> | <a href="/medgen?term=%22Nephronophthisis%22%5BClinical%20Features%5D%20OR%20146912%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1633603"><div><strong>Micropenis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1633603</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.">C4551492</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1633603">Feature record</a> | <a href="/medgen?term=%22Micropenis%22%5BClinical%20Features%5D%20OR%201633603%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87498"><div><strong>Preaxial polydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87498</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.">C0345354</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87498">Feature record</a> | <a href="/medgen?term=%22Preaxial%20polydactyly%22%5BClinical%20Features%5D%20OR%2087498%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</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.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120577"><div><strong>Exencephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120577</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.">C0266453</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120577">Feature record</a> | <a href="/medgen?term=%22Exencephaly%22%5BClinical%20Features%5D%20OR%20120577%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</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.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_400670"><div><strong>Molar tooth sign on MRI</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400670</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.">C1865060</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400670">Feature record</a> | <a href="/medgen?term=%22Molar%20tooth%20sign%20on%20MRI%22%5BClinical%20Features%5D%20OR%20400670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_483686"><div><strong>Oculomotor apraxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>483686</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.">C3489733</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/483686">Feature record</a> | <a href="/medgen?term=%22Oculomotor%20apraxia%22%5BClinical%20Features%5D%20OR%20483686%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</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.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_346841"><div><strong>Generalized hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346841</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.">C1858120</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Generalized muscular hypotonia (abnormally low muscle tone).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346841">Feature record</a> | <a href="/medgen?term=%22Generalized%20hypotonia%22%5BClinical%20Features%5D%20OR%20346841%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1046"><div><strong>Congenital ocular coloboma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1046</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.">C0009363</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye, including the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or the optic nerves, which carry information from the eyes to the brain.\n\nColobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision. Colobomas affecting the iris, which result in a "keyhole" appearance of the pupil, generally do not lead to vision loss. Colobomas involving the retina result in vision loss in specific parts of the visual field. Large retinal colobomas or those affecting the optic nerve can cause low vision, which means vision loss that cannot be completely corrected with glasses or contact lenses.\n\nSome people with coloboma also have a condition called microphthalmia. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with coloboma may also have other eye abnormalities, including clouding of the lens of the eye (cataract), increased pressure inside the eye (glaucoma) that can damage the optic nerve, vision problems such as nearsightedness (myopia), involuntary back-and-forth eye movements (nystagmus), or separation of the retina from the back of the eye (retinal detachment).\n\nSome individuals have coloboma as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When coloboma occurs by itself, it is described as nonsyndromic or isolated.\n\nColobomas involving the eyeball should be distinguished from gaps that occur in the eyelids. While these eyelid gaps are also called colobomas, they arise from abnormalities in different structures during early development.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1046">Feature record</a> | <a href="/medgen?term=%22Congenital%20ocular%20coloboma%22%5BClinical%20Features%5D%20OR%201046%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11209"><div><strong>Retinal disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11209</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.">C0035309</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11209">Feature record</a> | <a href="/medgen?term=%22Retinal%20disorder%22%5BClinical%20Features%5D%20OR%2011209%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_208903"><div><strong>Retinal dystrophy</strong><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>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208903">Feature record</a> | <a href="/medgen?term=%22Retinal%20dystrophy%22%5BClinical%20Features%5D%20OR%20208903%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87498" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Preaxial polydactyly</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1046" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital ocular coloboma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11209" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_208903" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal dystrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78596" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ambiguous genitalia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1633603" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Micropenis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_146912" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephronophthisis</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_346841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120577" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exencephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_400670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Molar tooth sign on MRI</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_483686" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculomotor apraxia</a></span></li></ul></li></ul></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/30055837">Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brooks BP,
|
||
Zein WM,
|
||
Thompson AH,
|
||
Mokhtarzadeh M,
|
||
Doherty DA,
|
||
Parisi M,
|
||
Glass IA,
|
||
Malicdan MC,
|
||
Vilboux T,
|
||
Vemulapalli M,
|
||
Mullikin JC,
|
||
Gahl WA,
|
||
Gunay-Aygun M</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2018 Dec;125(12):1937-1952.
|
||
Epub 2018 Jul 25
|
||
doi: 10.1016/j.ophtha.2018.05.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30055837" target="_blank">30055837</a><a href="/pmc/articles/PMC8932443" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20232449">Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iannicelli M,
|
||
Brancati F,
|
||
Mougou-Zerelli S,
|
||
Mazzotta A,
|
||
Thomas S,
|
||
Elkhartoufi N,
|
||
Travaglini L,
|
||
Gomes C,
|
||
Ardissino GL,
|
||
Bertini E,
|
||
Boltshauser E,
|
||
Castorina P,
|
||
D'Arrigo S,
|
||
Fischetto R,
|
||
Leroy B,
|
||
Loget P,
|
||
Bonnière M,
|
||
Starck L,
|
||
Tantau J,
|
||
Gentilin B,
|
||
Majore S,
|
||
Swistun D,
|
||
Flori E,
|
||
Lalatta F,
|
||
Pantaleoni C,
|
||
Penzien J,
|
||
Grammatico P;
|
||
International JSRD Study Group,
|
||
Dallapiccola B,
|
||
Gleeson JG,
|
||
Attie-Bitach T,
|
||
Valente EM</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2010 May;31(5):E1319-31.
|
||
doi: 10.1002/humu.21239.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20232449" target="_blank">20232449</a><a href="/pmc/articles/PMC2918781" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(joubert%20syndrome%2015)%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 (2)</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/39817683">Sleep and breathing in children with Joubert syndrome and a review of other rare congenital hindbrain malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ju-Wang JD,
|
||
Dempsey JC,
|
||
Zhang C,
|
||
Doherty D,
|
||
Witmans M,
|
||
Tablizo MA,
|
||
Chen ML</span><br />
|
||
<span class="medgenPMjournal">Ther Adv Respir Dis</span>
|
||
2025 Jan-Dec;19:17534666241308405.
|
||
doi: 10.1177/17534666241308405.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39817683" target="_blank">39817683</a><a href="/pmc/articles/PMC11748088" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<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>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Serpieri V,
|
||
D'Abrusco F,
|
||
Dempsey JC,
|
||
Cheng YH,
|
||
Arrigoni F,
|
||
Baker J,
|
||
Battini R,
|
||
Bertini ES,
|
||
Borgatti R,
|
||
Christman AK,
|
||
Curry C,
|
||
D'Arrigo S,
|
||
Fluss J,
|
||
Freilinger M,
|
||
Gana S,
|
||
Ishak GE,
|
||
Leuzzi V,
|
||
Loucks H,
|
||
Manti F,
|
||
Mendelsohn N,
|
||
Merlini L,
|
||
Miller CV,
|
||
Muhammad A,
|
||
Nuovo S,
|
||
Romaniello R,
|
||
Schmidt W,
|
||
Signorini S,
|
||
Siliquini S,
|
||
Szczałuba K,
|
||
Vasco G,
|
||
Wilson M,
|
||
Zanni G,
|
||
Boltshauser E,
|
||
Doherty D,
|
||
Valente EM;
|
||
University of Washington Center for Mendelian Genomics (UW-CMG) group</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2022 Sep;59(9):888-894.
|
||
Epub 2021 Oct 21
|
||
doi: 10.1136/jmedgenet-2021-108114.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34675124" target="_blank">34675124</a><a href="/pmc/articles/PMC9411896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29146704">Prospective Evaluation of Kidney Disease in Joubert Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fleming LR,
|
||
Doherty DA,
|
||
Parisi MA,
|
||
Glass IA,
|
||
Bryant J,
|
||
Fischer R,
|
||
Turkbey B,
|
||
Choyke P,
|
||
Daryanani K,
|
||
Vemulapalli M,
|
||
Mullikin JC,
|
||
Malicdan MC,
|
||
Vilboux T,
|
||
Sayer JA,
|
||
Gahl WA,
|
||
Gunay-Aygun M</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2017 Dec 7;12(12):1962-1973.
|
||
Epub 2017 Nov 16
|
||
doi: 10.2215/CJN.05660517.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29146704" target="_blank">29146704</a><a href="/pmc/articles/PMC5718273" 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 class="nl"><a target="_blank" href="/pubmed/23419574">The syndrome of infantile-onset saccade initiation delay.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salman MS,
|
||
Ikeda KM</span><br />
|
||
<span class="medgenPMjournal">Can J Neurol Sci</span>
|
||
2013 Mar;40(2):235-40.
|
||
doi: 10.1017/s0317167100013792.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23419574" target="_blank">23419574</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Joubert%20syndrome%2015%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 (18)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39817683">Sleep and breathing in children with Joubert syndrome and a review of other rare congenital hindbrain malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ju-Wang JD,
|
||
Dempsey JC,
|
||
Zhang C,
|
||
Doherty D,
|
||
Witmans M,
|
||
Tablizo MA,
|
||
Chen ML</span><br />
|
||
<span class="medgenPMjournal">Ther Adv Respir Dis</span>
|
||
2025 Jan-Dec;19:17534666241308405.
|
||
doi: 10.1177/17534666241308405.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39817683" target="_blank">39817683</a><a href="/pmc/articles/PMC11748088" 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/26166429">Pre- and Postnatal Neuroimaging of Congenital Cerebellar Abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poretti A,
|
||
Boltshauser E,
|
||
Huisman TAGM</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2016 Feb;15(1):5-9.
|
||
doi: 10.1007/s12311-015-0699-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26166429" target="_blank">26166429</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 class="nl"><a target="_blank" href="/pubmed/25846539">A 15-year-old boy with snoring and molar tooth sign.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El-Kersh K,
|
||
Senthilvel E</span><br />
|
||
<span class="medgenPMjournal">Chest</span>
|
||
2015 Apr;147(4):e148-e151.
|
||
doi: 10.1378/chest.14-1971.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25846539" target="_blank">25846539</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Joubert%20syndrome%2015%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 (37)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30055837">Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brooks BP,
|
||
Zein WM,
|
||
Thompson AH,
|
||
Mokhtarzadeh M,
|
||
Doherty DA,
|
||
Parisi M,
|
||
Glass IA,
|
||
Malicdan MC,
|
||
Vilboux T,
|
||
Vemulapalli M,
|
||
Mullikin JC,
|
||
Gahl WA,
|
||
Gunay-Aygun M</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2018 Dec;125(12):1937-1952.
|
||
Epub 2018 Jul 25
|
||
doi: 10.1016/j.ophtha.2018.05.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30055837" target="_blank">30055837</a><a href="/pmc/articles/PMC8932443" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Joubert%20syndrome%2015%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 (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39213781">Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy - A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vrabič N,
|
||
Fakin A,
|
||
Tekavčič Pompe M</span><br />
|
||
<span class="medgenPMjournal">J Fr Ophtalmol</span>
|
||
2024 Oct;47(8):104232.
|
||
Epub 2024 Aug 29
|
||
doi: 10.1016/j.jfo.2024.104232.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39213781" target="_blank">39213781</a></div>
|
||
|
||
<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>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Serpieri V,
|
||
D'Abrusco F,
|
||
Dempsey JC,
|
||
Cheng YH,
|
||
Arrigoni F,
|
||
Baker J,
|
||
Battini R,
|
||
Bertini ES,
|
||
Borgatti R,
|
||
Christman AK,
|
||
Curry C,
|
||
D'Arrigo S,
|
||
Fluss J,
|
||
Freilinger M,
|
||
Gana S,
|
||
Ishak GE,
|
||
Leuzzi V,
|
||
Loucks H,
|
||
Manti F,
|
||
Mendelsohn N,
|
||
Merlini L,
|
||
Miller CV,
|
||
Muhammad A,
|
||
Nuovo S,
|
||
Romaniello R,
|
||
Schmidt W,
|
||
Signorini S,
|
||
Siliquini S,
|
||
Szczałuba K,
|
||
Vasco G,
|
||
Wilson M,
|
||
Zanni G,
|
||
Boltshauser E,
|
||
Doherty D,
|
||
Valente EM;
|
||
University of Washington Center for Mendelian Genomics (UW-CMG) group</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2022 Sep;59(9):888-894.
|
||
Epub 2021 Oct 21
|
||
doi: 10.1136/jmedgenet-2021-108114.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34675124" target="_blank">34675124</a><a href="/pmc/articles/PMC9411896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33691693">Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ma DJ,
|
||
Lee HS,
|
||
Kim K,
|
||
Choi S,
|
||
Jang I,
|
||
Cho SH,
|
||
Yoon CK,
|
||
Lee EK,
|
||
Yu HG</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genomics</span>
|
||
2021 Mar 10;14(1):74.
|
||
doi: 10.1186/s12920-021-00874-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33691693" target="_blank">33691693</a><a href="/pmc/articles/PMC7945660" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29146704">Prospective Evaluation of Kidney Disease in Joubert Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fleming LR,
|
||
Doherty DA,
|
||
Parisi MA,
|
||
Glass IA,
|
||
Bryant J,
|
||
Fischer R,
|
||
Turkbey B,
|
||
Choyke P,
|
||
Daryanani K,
|
||
Vemulapalli M,
|
||
Mullikin JC,
|
||
Malicdan MC,
|
||
Vilboux T,
|
||
Sayer JA,
|
||
Gahl WA,
|
||
Gunay-Aygun M</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2017 Dec 7;12(12):1962-1973.
|
||
Epub 2017 Nov 16
|
||
doi: 10.2215/CJN.05660517.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29146704" target="_blank">29146704</a><a href="/pmc/articles/PMC5718273" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26166429">Pre- and Postnatal Neuroimaging of Congenital Cerebellar Abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poretti A,
|
||
Boltshauser E,
|
||
Huisman TAGM</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2016 Feb;15(1):5-9.
|
||
doi: 10.1007/s12311-015-0699-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26166429" target="_blank">26166429</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Joubert%20syndrome%2015%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 (9)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39817683">Sleep and breathing in children with Joubert syndrome and a review of other rare congenital hindbrain malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ju-Wang JD,
|
||
Dempsey JC,
|
||
Zhang C,
|
||
Doherty D,
|
||
Witmans M,
|
||
Tablizo MA,
|
||
Chen ML</span><br />
|
||
<span class="medgenPMjournal">Ther Adv Respir Dis</span>
|
||
2025 Jan-Dec;19:17534666241308405.
|
||
doi: 10.1177/17534666241308405.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39817683" target="_blank">39817683</a><a href="/pmc/articles/PMC11748088" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39213781">Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy - A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vrabič N,
|
||
Fakin A,
|
||
Tekavčič Pompe M</span><br />
|
||
<span class="medgenPMjournal">J Fr Ophtalmol</span>
|
||
2024 Oct;47(8):104232.
|
||
Epub 2024 Aug 29
|
||
doi: 10.1016/j.jfo.2024.104232.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39213781" target="_blank">39213781</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33691693">Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ma DJ,
|
||
Lee HS,
|
||
Kim K,
|
||
Choi S,
|
||
Jang I,
|
||
Cho SH,
|
||
Yoon CK,
|
||
Lee EK,
|
||
Yu HG</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genomics</span>
|
||
2021 Mar 10;14(1):74.
|
||
doi: 10.1186/s12920-021-00874-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33691693" target="_blank">33691693</a><a href="/pmc/articles/PMC7945660" 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 class="nl"><a target="_blank" href="/pubmed/22115003">Self-reported sleep and breathing disturbances in Joubert syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kamdar BB,
|
||
Nandkumar P,
|
||
Krishnan V,
|
||
Gamaldo CE,
|
||
Collop NA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2011 Dec;45(6):395-9.
|
||
doi: 10.1016/j.pediatrneurol.2011.09.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22115003" target="_blank">22115003</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Joubert%20syndrome%2015%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 (13)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/39213781">Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy - A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vrabič N,
|
||
Fakin A,
|
||
Tekavčič Pompe M</span><br />
|
||
<span class="medgenPMjournal">J Fr Ophtalmol</span>
|
||
2024 Oct;47(8):104232.
|
||
Epub 2024 Aug 29
|
||
doi: 10.1016/j.jfo.2024.104232.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39213781" target="_blank">39213781</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Joubert%20syndrome%2015%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 (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<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_content ln"><ul id="my-toc"></ul></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=C3280897%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (39)</a></li>
|
||
<li><a href="/gtr/tests?term=C3280897%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C3280897%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (55)</a></li>
|
||
<li><a href="/gtr/tests?term=C3280897%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (18)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3280897%5bDISCUI%5d" target="_blank">See all (55)</a></total></li>
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</ul></div>
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</div>
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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/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=614464" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Joubert%20syndrome%2015" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
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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=(joubert%20syndrome%2015)%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></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" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=95681[geneid]" target="_blank">View CEP41 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=614464" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
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|
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<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/joubert_syndrome_15" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Joubert%20syndrome%2015" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/15806/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
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<div class="portlet_title">
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<h3>Reviews</h3>
|
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</div>
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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</div>
|
||
<div class="portlet_content">
|
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<ul>
|
||
<li>
|
||
<a href="/pubmed/20301500" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Joubert%20syndrome%2015" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Joubert%20syndrome%2015%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
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||
<div class="portlet_title">
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<h3>Related information</h3>
|
||
</div>
|
||
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|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=482527" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=482527" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3280897[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3280897[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=482527" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=482527" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=482527" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=482527" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=482527" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
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||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=482527" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
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<div class="portlet">
|
||
<div class="portlet_head">
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<div class="row">
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<div class="col-lg-12 centered-lg">
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<nav class="bottom-links">
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<ul class="mt-3">
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||
<li>
|
||
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
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<li>
|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
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||
</li>
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<li>
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<a class="text-white" href="https://www.hhs.gov/">HHS</a>
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</li>
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<li>
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<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
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</li>
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<script type="text/javascript" src="/portal/portal3rc.fcgi/static/js/hfjs2.js"> </script>
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