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<!--
|
||
UID=355304
|
||
ConceptID=C1864827
|
||
-->
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<!--imgCountBooks = 6--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (6)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1530/bin/hpe-overview-Image006.gif" src-large="/books/NBK1530/bin/hpe-overview-Image006.jpg" /></a><br /><a href="/books/NBK1530/figure/hpe-overview.F6/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1530/bin/hpe-overview-Image001.gif" src-large="/books/NBK1530/bin/hpe-overview-Image001.jpg" /></a><br /><a href="/books/NBK1530/figure/hpe-overview.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1530/bin/hpe-overview-Image004.gif" src-large="/books/NBK1530/bin/hpe-overview-Image004.jpg" /></a><br /><a href="/books/NBK1530/figure/hpe-overview.F4/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1530/bin/hpe-overview-Image002.gif" src-large="/books/NBK1530/bin/hpe-overview-Image002.jpg" /></a><br /><a href="/books/NBK1530/figure/hpe-overview.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1530/bin/hpe-overview-Image005.gif" src-large="/books/NBK1530/bin/hpe-overview-Image005.jpg" /></a><br /><a href="/books/NBK1530/figure/hpe-overview.F5/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1530/bin/hpe-overview-Image003.gif" src-large="/books/NBK1530/bin/hpe-overview-Image003.jpg" /></a><br /><a href="/books/NBK1530/figure/hpe-overview.F3/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Holoprosencephaly 5<span class="h1sub">(HPE5)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355304</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.">C1864827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>HPE5</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="ZIC2 - ID: 7546 - NCBI Gene" href="/gene/7546" class="medgenPMinfo">ZIC2</a> (13q32.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012322" target="_blank">MONDO:0012322</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/609637" target="_blank">609637</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_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Holoprosencephaly associated with mutations in the ZIC2 gene. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</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_488785"><div><strong>Macrotia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488785</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.">C0152421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488785">Feature record</a> | <a href="/medgen?term=%22Macrotia%22%5BClinical%20Features%5D%20OR%20488785%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9335"><div><strong>Hydrocephalus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9335</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.">C0020255</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9335">Feature record</a> | <a href="/medgen?term=%22Hydrocephalus%22%5BClinical%20Features%5D%20OR%209335%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_86860"><div><strong>Arachnoid cyst</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>86860</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.">C0078981</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/86860">Feature record</a> | <a href="/medgen?term=%22Arachnoid%20cyst%22%5BClinical%20Features%5D%20OR%2086860%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_38214"><div><strong>Holoprosencephaly sequence</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>38214</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.">C0079541</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nonsyndromic holoprosencephaly is an abnormality of brain development that also affects the head and face. Normally, the brain divides into two halves (hemispheres) during early development. Holoprosencephaly occurs when the brain fails to divide properly into the right and left hemispheres. This condition is called nonsyndromic to distinguish it from other types of holoprosencephaly caused by genetic syndromes, chromosome abnormalities, or substances that cause birth defects (teratogens). The severity of nonsyndromic holoprosencephaly varies widely among affected individuals, even within the same family.\n\nNonsyndromic holoprosencephaly can be grouped into four types according to the degree of brain division. From most to least severe, the types are known as alobar, semi-lobar, lobar, and middle interhemispheric variant (MIHV). In the most severe forms of nonsyndromic holoprosencephaly, the brain does not divide at all. These affected individuals have one central eye (cyclopia) and a tubular nasal structure (proboscis) located above the eye. Most babies with severe nonsyndromic holoprosencephaly die before birth or soon after. In the less severe forms, the brain is partially divided and the eyes are usually set close together (hypotelorism). The life expectancy of these affected individuals varies depending on the severity of symptoms.\n\nPeople with nonsyndromic holoprosencephaly often have a small head (microcephaly), although they can develop a buildup of fluid in the brain (hydrocephalus) that causes increased head size (macrocephaly). Other features may include an opening in the roof of the mouth (cleft palate) with or without a split in the upper lip (cleft lip), one central front tooth instead of two (a single maxillary central incisor), and a flat nasal bridge. The eyeballs may be abnormally small (microphthalmia) or absent (anophthalmia).\n\nSome individuals with nonsyndromic holoprosencephaly have a distinctive pattern of facial features, including a narrowing of the head at the temples, outside corners of the eyes that point upward (upslanting palpebral fissures), large ears, a short nose with upturned nostrils, and a broad and deep space between the nose and mouth (philtrum). In general, the severity of facial features is directly related to the severity of the brain abnormalities. However, individuals with mildly affected facial features can have severe brain abnormalities. Some people do not have apparent structural brain abnormalities but have some of the facial features associated with this condition. These individuals are considered to have a form of the disorder known as microform holoprosencephaly and are typically identified after the birth of a severely affected family member.\n\nMost people with nonsyndromic holoprosencephaly have developmental delay and intellectual disability. Affected individuals also frequently have a malfunctioning pituitary gland, which is a gland located at the base of the brain that produces several hormones. Because pituitary dysfunction leads to the partial or complete absence of these hormones, it can cause a variety of disorders. Most commonly, people with nonsyndromic holoprosencephaly and pituitary dysfunction develop diabetes insipidus, a condition that disrupts the balance between fluid intake and urine excretion. Dysfunction in other parts of the brain can cause seizures, feeding difficulties, and problems regulating body temperature, heart rate, and breathing. The sense of smell may be diminished (hyposmia) or completely absent (anosmia) if the part of the brain that processes smells is underdeveloped or missing.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/38214">Feature record</a> | <a href="/medgen?term=%22Holoprosencephaly%20sequence%22%5BClinical%20Features%5D%20OR%2038214%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_57738"><div><strong>Hyperreflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57738</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.">C0151889</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/57738">Feature record</a> | <a href="/medgen?term=%22Hyperreflexia%22%5BClinical%20Features%5D%20OR%2057738%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_96559"><div><strong>Lobar holoprosencephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96559</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.">C0431362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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||
<div class="spaceAbove">A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/96559">Feature record</a> | <a href="/medgen?term=%22Lobar%20holoprosencephaly%22%5BClinical%20Features%5D%20OR%2096559%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_140909"><div><strong>Alobar holoprosencephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140909</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.">C0431363</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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||
<div class="spaceAbove">A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/140909">Feature record</a> | <a href="/medgen?term=%22Alobar%20holoprosencephaly%22%5BClinical%20Features%5D%20OR%20140909%5Buid%5D">Search on this feature</a></div></div>
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||
<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>
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||
<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>
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||
<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>
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||
<div class="divPopper rprt" id="clin_196624"><div><strong>Cerebellar atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196624</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.">C0740279</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/196624">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20atrophy%22%5BClinical%20Features%5D%20OR%20196624%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_199694"><div><strong>Semilobar holoprosencephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>199694</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.">C0751617</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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||
<div class="spaceAbove">A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/199694">Feature record</a> | <a href="/medgen?term=%22Semilobar%20holoprosencephaly%22%5BClinical%20Features%5D%20OR%20199694%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_383904"><div><strong>Lateral ventricle dilatation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383904</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.">C1856409</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/383904">Feature record</a> | <a href="/medgen?term=%22Lateral%20ventricle%20dilatation%22%5BClinical%20Features%5D%20OR%20383904%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_480553"><div><strong>Ventriculomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480553</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.">C3278923</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">An increase in size of the ventricular system of the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/480553">Feature record</a> | <a href="/medgen?term=%22Ventriculomegaly%22%5BClinical%20Features%5D%20OR%20480553%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_1696755"><div><strong>Persistent asymmetrical tonic neck reflex</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1696755</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.">C5209285</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Persistence beyond the normal age (roughly the first half of the first year of life) of the asymmetric tonic neck reflex (ATNR), which is an easily elicited primitive reflex in the immediate newborn period. The ATNR refers to the phenomenon whereby when the face of an infant is turned to one side, the ipsilateral arm and leg extend and the contralateral arm and leg flex. This posture has been compared to a typical posture of fencers.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1696755">Feature record</a> | <a href="/medgen?term=%22Persistent%20asymmetrical%20tonic%20neck%20reflex%22%5BClinical%20Features%5D%20OR%201696755%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1708682"><div><strong>Syntelencephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1708682</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.">C5396362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Syntelencephaly is a rare malformation that consists of an abnormal midline connection of the cerebral hemispheres in the posterior frontal and parietal regions, with interhemispheric separation of the basal forebrain, anterior frontal lobes, and occipital regions.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1708682">Feature record</a> | <a href="/medgen?term=%22Syntelencephaly%22%5BClinical%20Features%5D%20OR%201708682%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82713"><div><strong>Trigonocephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82713</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.">C0265535</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82713">Feature record</a> | <a href="/medgen?term=%22Trigonocephaly%22%5BClinical%20Features%5D%20OR%2082713%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_195780"><div><strong>Camptodactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195780</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.">C0685409</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195780">Feature record</a> | <a href="/medgen?term=%22Camptodactyly%22%5BClinical%20Features%5D%20OR%20195780%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</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.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65991"><div><strong>High forehead</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65991</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.">C0239676</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased height of the forehead.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65991">Feature record</a> | <a href="/medgen?term=%22High%20forehead%22%5BClinical%20Features%5D%20OR%2065991%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66814"><div><strong>High palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66814</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.">C0240635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66814">Feature record</a> | <a href="/medgen?term=%22High%20palate%22%5BClinical%20Features%5D%20OR%2066814%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98390"><div><strong>Upslanted palpebral fissure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98390</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.">C0423109</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98390">Feature record</a> | <a href="/medgen?term=%22Upslanted%20palpebral%20fissure%22%5BClinical%20Features%5D%20OR%2098390%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_373112"><div><strong>Depressed nasal bridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373112</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.">C1836542</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Posterior positioning of the nasal root in relation to the overall facial profile for age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373112">Feature record</a> | <a href="/medgen?term=%22Depressed%20nasal%20bridge%22%5BClinical%20Features%5D%20OR%20373112%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326956"><div><strong>Narrow forehead</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326956</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.">C1839758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326956">Feature record</a> | <a href="/medgen?term=%22Narrow%20forehead%22%5BClinical%20Features%5D%20OR%20326956%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_374311"><div><strong>Deep philtrum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374311</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.">C1839797</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374311">Feature record</a> | <a href="/medgen?term=%22Deep%20philtrum%22%5BClinical%20Features%5D%20OR%20374311%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326648"><div><strong>Anteverted nares</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326648</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.">C1840077</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326648">Feature record</a> | <a href="/medgen?term=%22Anteverted%20nares%22%5BClinical%20Features%5D%20OR%20326648%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_338610"><div><strong>Broad forehead</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338610</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.">C1849089</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338610">Feature record</a> | <a href="/medgen?term=%22Broad%20forehead%22%5BClinical%20Features%5D%20OR%20338610%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_346640"><div><strong>Sloping forehead</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346640</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.">C1857679</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346640">Feature record</a> | <a href="/medgen?term=%22Sloping%20forehead%22%5BClinical%20Features%5D%20OR%20346640%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_472000"><div><strong>Orofacial cleft</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>472000</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.">C3266076</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/472000">Feature record</a> | <a href="/medgen?term=%22Orofacial%20cleft%22%5BClinical%20Features%5D%20OR%20472000%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98132"><div><strong>Synophrys</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98132</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.">C0431447</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Meeting of the medial eyebrows in the midline.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98132">Feature record</a> | <a href="/medgen?term=%22Synophrys%22%5BClinical%20Features%5D%20OR%2098132%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_146919"><div><strong>Central diabetes insipidus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>146919</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.">C0687720</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/146919">Feature record</a> | <a href="/medgen?term=%22Central%20diabetes%20insipidus%22%5BClinical%20Features%5D%20OR%20146919%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41917"><div><strong>Proptosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41917</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.">C0015300</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An eye that is protruding anterior to the plane of the face to a greater extent than is typical.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41917">Feature record</a> | <a href="/medgen?term=%22Proptosis%22%5BClinical%20Features%5D%20OR%2041917%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9373"><div><strong>Hypertelorism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9373</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.">C0020534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9373">Feature record</a> | <a href="/medgen?term=%22Hypertelorism%22%5BClinical%20Features%5D%20OR%209373%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96107"><div><strong>Hypotelorism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96107</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.">C0424711</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96107">Feature record</a> | <a href="/medgen?term=%22Hypotelorism%22%5BClinical%20Features%5D%20OR%2096107%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 head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326648" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anteverted nares</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_338610" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Broad forehead</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_374311" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deep philtrum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373112" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depressed nasal bridge</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65991" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High forehead</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High palate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326956" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Narrow forehead</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_472000" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofacial cleft</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_346640" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sloping forehead</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98390" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Upslanted palpebral fissure</a></span></li></ul></li><li><span class="TLline">Abnormality of the endocrine system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_146919" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Central diabetes insipidus</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_9373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertelorism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96107" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotelorism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proptosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98132" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Synophrys</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_195780" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Camptodactyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Trigonocephaly</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_140909" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alobar holoprosencephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_86860" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arachnoid cyst</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_196624" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar atrophy</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_38214" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Holoprosencephaly sequence</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9335" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hydrocephalus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperreflexia</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_383904" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lateral ventricle dilatation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96559" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lobar holoprosencephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1696755" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Persistent asymmetrical tonic neck reflex</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_199694" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Semilobar holoprosencephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1708682" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syntelencephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_480553" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventriculomegaly</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_488785" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrotia</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<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>
|
||
<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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0079541[DISCUI]&test_type=Clinical" ref="ncbi_uid=38214">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=38214" target="_blank" href="/omim/236100">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=38214">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=38214" ref="ncbi_uid=38214">V</a></span></span><span class="TLline"><a href="/medgen/38214" ref="tree=GTR&ncbi_uid=38214&link_uid=38214" title="View MedGen record for 'Holoprosencephaly sequence'">Holoprosencephaly sequence</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0265242[DISCUI]&test_type=Clinical" ref="ncbi_uid=78541">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78541" target="_blank" href="/omim/167420">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=78541">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78541" ref="ncbi_uid=78541">V</a></span></span><span class="TLline"><a href="/medgen/78541" ref="tree=GTR&ncbi_uid=78541&link_uid=78541" title="View MedGen record for 'Agnathia-otocephaly complex'">Agnathia-otocephaly complex</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=C2675857[DISCUI]&test_type=Clinical" ref="ncbi_uid=382704">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=382704" target="_blank" href="/omim/612530">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=382704" ref="ncbi_uid=382704">V</a></span></span><span class="TLline"><a href="/medgen/382704" ref="tree=GTR&ncbi_uid=382704&link_uid=382704" title="View MedGen record for 'Chromosome 1q41-q42 deletion syndrome'">Chromosome 1q41-q42 deletion 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=C1845146[DISCUI]&test_type=Clinical" ref="ncbi_uid=335111">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335111" target="_blank" href="/omim/136350">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1530%20OR%20NBK349073)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=335111">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=335111" ref="ncbi_uid=335111">V</a></span></span><span class="TLline"><a href="/medgen/335111" ref="tree=GTR&ncbi_uid=335111&link_uid=335111" title="View MedGen record for 'Hartsfield-Bixler-Demyer syndrome'">Hartsfield-Bixler-Demyer 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=C0266667[DISCUI]&test_type=Clinical" ref="ncbi_uid=78617">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78617" target="_blank" href="/omim/236100">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=78617">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78617" ref="ncbi_uid=78617">V</a></span></span><span class="TLline"><a href="/medgen/78617" ref="tree=GTR&ncbi_uid=78617&link_uid=78617" title="View MedGen record for 'Holoprosencephaly 1'">Holoprosencephaly 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=C1834877[DISCUI]&test_type=Clinical" ref="ncbi_uid=322517">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322517" target="_blank" href="/omim/157170">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=322517">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=322517" ref="ncbi_uid=322517">V</a></span></span><span class="TLline"><a href="/medgen/322517" ref="tree=GTR&ncbi_uid=322517&link_uid=322517" title="View MedGen record for 'Holoprosencephaly 2'">Holoprosencephaly 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=C1840529[DISCUI]&test_type=Clinical" ref="ncbi_uid=327125">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=327125" target="_blank" href="/omim/142945">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=327125">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=327125" ref="ncbi_uid=327125">V</a></span></span><span class="TLline"><a href="/medgen/327125" ref="tree=GTR&ncbi_uid=327125&link_uid=327125" title="View MedGen record for 'Holoprosencephaly 3'">Holoprosencephaly 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=C1840528[DISCUI]&test_type=Clinical" ref="ncbi_uid=374488">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=374488" target="_blank" href="/omim/142946">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=374488">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=374488" ref="ncbi_uid=374488">V</a></span></span><span class="TLline"><a href="/medgen/374488" ref="tree=GTR&ncbi_uid=374488&link_uid=374488" title="View MedGen record for 'Holoprosencephaly 4'">Holoprosencephaly 4</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864827[DISCUI]&test_type=Clinical" ref="ncbi_uid=355304">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355304" target="_blank" href="/omim/603073">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=355304">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=355304" ref="ncbi_uid=355304">V</a></span></span><span class="TLline">Holoprosencephaly 5</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853830[DISCUI]&test_type=Clinical" ref="ncbi_uid=342979">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=342979" target="_blank" href="/omim/605934">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=342979">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/342979" ref="tree=GTR&ncbi_uid=342979&link_uid=342979" title="View MedGen record for 'Holoprosencephaly 6'">Holoprosencephaly 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=C1835820[DISCUI]&test_type=Clinical" ref="ncbi_uid=372134">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=372134" target="_blank" href="/omim/601309">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=372134">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=372134" ref="ncbi_uid=372134">V</a></span></span><span class="TLline"><a href="/medgen/372134" ref="tree=GTR&ncbi_uid=372134&link_uid=372134" title="View MedGen record for 'Holoprosencephaly 7'">Holoprosencephaly 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=C1836254[DISCUI]&test_type=Clinical" ref="ncbi_uid=322873">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322873" target="_blank" href="/omim/609408">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=322873">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/322873" ref="tree=GTR&ncbi_uid=322873&link_uid=322873" title="View MedGen record for 'Holoprosencephaly 8'">Holoprosencephaly 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=C1835819[DISCUI]&test_type=Clinical" ref="ncbi_uid=324369">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324369" target="_blank" href="/omim/165230">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=324369">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=324369" ref="ncbi_uid=324369">V</a></span></span><span class="TLline"><a href="/medgen/324369" ref="tree=GTR&ncbi_uid=324369&link_uid=324369" title="View MedGen record for 'Holoprosencephaly 9'">Holoprosencephaly 9</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=441620">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/441620" ref="tree=GTR&ncbi_uid=441620&link_uid=441620" title="View MedGen record for 'Holoprosencephaly caudal dysgenesis'">Holoprosencephaly caudal dysgenesis</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=441187">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/441187" ref="tree=GTR&ncbi_uid=441187&link_uid=441187" title="View MedGen record for 'Holoprosencephaly deletion 2p'">Holoprosencephaly deletion 2p</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=441188">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/441188" ref="tree=GTR&ncbi_uid=441188&link_uid=441188" title="View MedGen record for 'Holoprosencephaly ectrodactyly cleft lip palate'">Holoprosencephaly ectrodactyly cleft lip palate</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=441189">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/441189" ref="tree=GTR&ncbi_uid=441189&link_uid=441189" title="View MedGen record for 'Holoprosencephaly radial heart renal anomalies'">Holoprosencephaly radial heart renal anomalies</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343987" target="_blank" href="/omim/610680">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=343987">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/343987" ref="tree=GTR&ncbi_uid=343987&link_uid=343987" title="View MedGen record for 'Holoprosencephaly, recurrent infections, and monocytosis'">Holoprosencephaly, recurrent infections, and monocytosis</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=330464" target="_blank" href="/omim/601370">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=330464">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/330464" ref="tree=GTR&ncbi_uid=330464&link_uid=330464" title="View MedGen record for 'Holoprosencephaly-craniosynostosis syndrome'">Holoprosencephaly-craniosynostosis syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=336097" target="_blank" href="/omim/306990">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=336097">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=336097" ref="ncbi_uid=336097">V</a></span></span><span class="TLline"><a href="/medgen/336097" ref="tree=GTR&ncbi_uid=336097&link_uid=336097" title="View MedGen record for 'Holoprosencephaly-hypokinesia-congenital contractures syndrome'">Holoprosencephaly-hypokinesia-congenital contractures syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=340382" target="_blank" href="/omim/264480">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=340382">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/340382" ref="tree=GTR&ncbi_uid=340382&link_uid=340382" title="View MedGen record for 'Holoprosencephaly-postaxial polydactyly syndrome'">Holoprosencephaly-postaxial polydactyly syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343380" target="_blank" href="/omim/245552">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1530/" ref="ncbi_uid=343380">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/343380" ref="tree=GTR&ncbi_uid=343380&link_uid=343380" title="View MedGen record for 'Lambotte syndrome'">Lambotte 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=CN120371[DISCUI]&test_type=Clinical" ref="ncbi_uid=468539">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/468539" ref="tree=GTR&ncbi_uid=468539&link_uid=468539" title="View MedGen record for 'NODAL-Related Holoprosencephaly'">NODAL-Related Holoprosencephaly</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/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892343" ref="tree=MeSH" title="MedGen record for Morphological central nervous system abnormality">Morphological central nervous system abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/866738" ref="tree=MeSH" title="MedGen record for Abnormal brain morphology">Abnormal brain morphology</a></span><ul><li><span class="TLline"><a href="/medgen/38214" ref="tree=MeSH" title="MedGen record for Holoprosencephaly sequence">Holoprosencephaly sequence</a></span><ul><li><span class="matched_ds">Holoprosencephaly 5</span></li></ul></li></ul></li></ul></li></ul></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/37842862">Whole-genome sequencing analysis in fetal structural anomalies: novel phenotype-genotype discoveries.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Qi Q,
|
||
Jiang Y,
|
||
Zhou X,
|
||
Lü Y,
|
||
Xiao R,
|
||
Bai J,
|
||
Lou H,
|
||
Sun W,
|
||
Lian Y,
|
||
Hao N,
|
||
Li M,
|
||
Chang J</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2024 May;63(5):664-671.
|
||
Epub 2024 Apr 15
|
||
doi: 10.1002/uog.27517.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37842862" target="_blank">37842862</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29770996">Prenatal diagnosis of holoprosencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kousa YA,
|
||
du Plessis AJ,
|
||
Vezina G</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2018 Jun;178(2):206-213.
|
||
Epub 2018 May 17
|
||
doi: 10.1002/ajmg.c.31618.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29770996" target="_blank">29770996</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3543388">Lobar holoprosencephaly with hydrocephalus: antenatal demonstration and differential diagnosis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Hoffman-Tretin JC,
|
||
Horoupian DS,
|
||
Koenigsberg M,
|
||
Schnur MJ,
|
||
Llena JF</span><br />
|
||
<span class="medgenPMjournal">J Ultrasound Med</span>
|
||
1986 Dec;5(12):691-7.
|
||
doi: 10.7863/jum.1986.5.12.691.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3543388" target="_blank">3543388</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(holoprosencephaly%205)%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 (25)</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/31213636">Fetal brain MRI findings and neonatal outcome of common diagnosis at a tertiary care center.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arroyo MS,
|
||
Hopkin RJ,
|
||
Nagaraj UD,
|
||
Kline-Fath B,
|
||
Venkatesan C</span><br />
|
||
<span class="medgenPMjournal">J Perinatol</span>
|
||
2019 Aug;39(8):1072-1077.
|
||
Epub 2019 Jun 18
|
||
doi: 10.1038/s41372-019-0407-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31213636" target="_blank">31213636</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31063520">The wide spectrum of ultrasound diagnosis of holoprosencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ionescu CA,
|
||
Vladareanu S,
|
||
Tudorache S,
|
||
Ples L,
|
||
Herghelegiu C,
|
||
Neacsu A,
|
||
Navolan D,
|
||
Dragan I,
|
||
Oprescu DN</span><br />
|
||
<span class="medgenPMjournal">Med Ultrason</span>
|
||
2019 May 2;21(2):163-169.
|
||
doi: 10.11152/mu-1614.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31063520" target="_blank">31063520</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2736554">Hydrocephalus in premature infants. Characteristics and therapeutic problems.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oi S,
|
||
Matsumoto S</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
1989 Apr;5(2):76-82.
|
||
doi: 10.1007/BF00571114.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2736554" target="_blank">2736554</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3434717">Treatment of the West syndrome with high-dose pyridoxal phosphate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ohtsuka Y,
|
||
Matsuda M,
|
||
Ogino T,
|
||
Kobayashi K,
|
||
Ohtahara S</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
1987;9(4):418-21.
|
||
doi: 10.1016/s0387-7604(87)80116-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3434717" target="_blank">3434717</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1080088">Familial Kallmann syndrome with unilateral renal aplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wegenke JD,
|
||
Uehling DT,
|
||
Wear JB Jr,
|
||
Gordon ES,
|
||
Bargman JG,
|
||
Deacon JS,
|
||
Herrmann JP,
|
||
Opitz JM</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
1975 May-Jun;7(5):368-81.
|
||
doi: 10.1111/j.1399-0004.1975.tb00344.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1080088" target="_blank">1080088</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Holoprosencephaly%205%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 (127)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38096238">Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brauner R,
|
||
Bignon-Topalovic J,
|
||
Bashamboo A,
|
||
McElreavey K</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2023;18(12):e0292664.
|
||
Epub 2023 Dec 14
|
||
doi: 10.1371/journal.pone.0292664.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38096238" target="_blank">38096238</a><a href="/pmc/articles/PMC10721018" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31063520">The wide spectrum of ultrasound diagnosis of holoprosencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ionescu CA,
|
||
Vladareanu S,
|
||
Tudorache S,
|
||
Ples L,
|
||
Herghelegiu C,
|
||
Neacsu A,
|
||
Navolan D,
|
||
Dragan I,
|
||
Oprescu DN</span><br />
|
||
<span class="medgenPMjournal">Med Ultrason</span>
|
||
2019 May 2;21(2):163-169.
|
||
doi: 10.11152/mu-1614.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31063520" target="_blank">31063520</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29770996">Prenatal diagnosis of holoprosencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kousa YA,
|
||
du Plessis AJ,
|
||
Vezina G</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2018 Jun;178(2):206-213.
|
||
Epub 2018 May 17
|
||
doi: 10.1002/ajmg.c.31618.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29770996" target="_blank">29770996</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20432001">Cerebral malformations without antenatal diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Girard NJ</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
2010 Jun;40(6):834-43.
|
||
Epub 2010 Apr 30
|
||
doi: 10.1007/s00247-010-1595-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20432001" target="_blank">20432001</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2678293">Congenital central nervous system anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poe LB,
|
||
Coleman LL,
|
||
Mahmud F</span><br />
|
||
<span class="medgenPMjournal">Radiographics</span>
|
||
1989 Sep;9(5):801-26.
|
||
doi: 10.1148/radiographics.9.5.2678293.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2678293" target="_blank">2678293</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Holoprosencephaly%205%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 (177)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26787175">I only have eye for ewe: the discovery of cyclopamine and development of Hedgehog pathway-targeting drugs.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen JK</span><br />
|
||
<span class="medgenPMjournal">Nat Prod Rep</span>
|
||
2016 May 4;33(5):595-601.
|
||
doi: 10.1039/c5np00153f.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26787175" target="_blank">26787175</a><a href="/pmc/articles/PMC4856577" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11932986">Teratogenesis of holoprosencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohen MM Jr,
|
||
Shiota K</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
2002 Apr 15;109(1):1-15.
|
||
doi: 10.1002/ajmg.10258.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11932986" target="_blank">11932986</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1754503">Association between holoprosencephaly and exposure to topical retinoids: results of the EUROCAT Survey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Wals P,
|
||
Bloch D,
|
||
Calabro A,
|
||
Calzolari E,
|
||
Cornel MC,
|
||
Johnson Z,
|
||
Ligutic I,
|
||
Nevin N,
|
||
Pexieder I,
|
||
Stoll C</span><br />
|
||
<span class="medgenPMjournal">Paediatr Perinat Epidemiol</span>
|
||
1991 Oct;5(4):445-7.
|
||
doi: 10.1111/j.1365-3016.1991.tb00730.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1754503" target="_blank">1754503</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3434717">Treatment of the West syndrome with high-dose pyridoxal phosphate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ohtsuka Y,
|
||
Matsuda M,
|
||
Ogino T,
|
||
Kobayashi K,
|
||
Ohtahara S</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
1987;9(4):418-21.
|
||
doi: 10.1016/s0387-7604(87)80116-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3434717" target="_blank">3434717</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3989833">A case of suspected teratogenic holoprosencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stabile M,
|
||
Bianco A,
|
||
Iannuzzi S,
|
||
Buonocore MC,
|
||
Ventruto V</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1985 Apr;22(2):147-9.
|
||
doi: 10.1136/jmg.22.2.147.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3989833" target="_blank">3989833</a><a href="/pmc/articles/PMC1049404" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Holoprosencephaly%205%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 (23)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31213636">Fetal brain MRI findings and neonatal outcome of common diagnosis at a tertiary care center.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arroyo MS,
|
||
Hopkin RJ,
|
||
Nagaraj UD,
|
||
Kline-Fath B,
|
||
Venkatesan C</span><br />
|
||
<span class="medgenPMjournal">J Perinatol</span>
|
||
2019 Aug;39(8):1072-1077.
|
||
Epub 2019 Jun 18
|
||
doi: 10.1038/s41372-019-0407-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31213636" target="_blank">31213636</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27075944">Median cleft of the upper lip: A new classification to guide treatment decisions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Boutray M,
|
||
Beziat JL,
|
||
Yachouh J,
|
||
Bigorre M,
|
||
Gleizal A,
|
||
Captier G</span><br />
|
||
<span class="medgenPMjournal">J Craniomaxillofac Surg</span>
|
||
2016 Jun;44(6):664-71.
|
||
Epub 2016 Mar 2
|
||
doi: 10.1016/j.jcms.2016.02.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27075944" target="_blank">27075944</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9621381">Holoprosencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peebles DM</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
1998 May;18(5):477-80.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9621381" target="_blank">9621381</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2736554">Hydrocephalus in premature infants. Characteristics and therapeutic problems.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oi S,
|
||
Matsumoto S</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
1989 Apr;5(2):76-82.
|
||
doi: 10.1007/BF00571114.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2736554" target="_blank">2736554</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2671396">Magnetic resonance imaging of supratentorial congenital brain malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Byrd SE</span><br />
|
||
<span class="medgenPMjournal">J Natl Med Assoc</span>
|
||
1989 Aug;81(8):873-81.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2671396" target="_blank">2671396</a><a href="/pmc/articles/PMC2626057" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Holoprosencephaly%205%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 (68)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38096238">Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brauner R,
|
||
Bignon-Topalovic J,
|
||
Bashamboo A,
|
||
McElreavey K</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2023;18(12):e0292664.
|
||
Epub 2023 Dec 14
|
||
doi: 10.1371/journal.pone.0292664.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38096238" target="_blank">38096238</a><a href="/pmc/articles/PMC10721018" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31063520">The wide spectrum of ultrasound diagnosis of holoprosencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ionescu CA,
|
||
Vladareanu S,
|
||
Tudorache S,
|
||
Ples L,
|
||
Herghelegiu C,
|
||
Neacsu A,
|
||
Navolan D,
|
||
Dragan I,
|
||
Oprescu DN</span><br />
|
||
<span class="medgenPMjournal">Med Ultrason</span>
|
||
2019 May 2;21(2):163-169.
|
||
doi: 10.11152/mu-1614.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31063520" target="_blank">31063520</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26785373">Holoprosencephaly with agenesia of the prosencephalic ventricle.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Laure-Kamionowska M,
|
||
Szymanska K,
|
||
Klepacka T</span><br />
|
||
<span class="medgenPMjournal">Folia Neuropathol</span>
|
||
2015;53(4):387-94.
|
||
doi: 10.5114/fn.2015.56553.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26785373" target="_blank">26785373</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22800609">Neurosonoembryology by three-dimensional ultrasound.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pooh RK</span><br />
|
||
<span class="medgenPMjournal">Semin Fetal Neonatal Med</span>
|
||
2012 Oct;17(5):261-8.
|
||
Epub 2012 Jul 15
|
||
doi: 10.1016/j.siny.2012.05.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22800609" target="_blank">22800609</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1865466">Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verloes A,
|
||
Aymé S,
|
||
Gambarelli D,
|
||
Gonzales M,
|
||
Le Merrer M,
|
||
Mulliez N,
|
||
Philip N,
|
||
Roume J</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1991 May;28(5):297-303.
|
||
doi: 10.1136/jmg.28.5.297.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1865466" target="_blank">1865466</a><a href="/pmc/articles/PMC1016846" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Holoprosencephaly%205%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 (77)</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/35104296">Risks of specific congenital anomalies in offspring of women with diabetes: A systematic review and meta-analysis of population-based studies including over 80 million births.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang TN,
|
||
Huang XM,
|
||
Zhao XY,
|
||
Wang W,
|
||
Wen R,
|
||
Gao SY</span><br />
|
||
<span class="medgenPMjournal">PLoS Med</span>
|
||
2022 Feb;19(2):e1003900.
|
||
Epub 2022 Feb 1
|
||
doi: 10.1371/journal.pmed.1003900.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35104296" target="_blank">35104296</a><a href="/pmc/articles/PMC8806075" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30929071">Hydranencephaly complicated by central diabetes insipidus: report of two cases and systematic review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Omar AT 2nd,
|
||
Khu KJO</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2019 Jul;35(7):1165-1171.
|
||
Epub 2019 Mar 30
|
||
doi: 10.1007/s00381-019-04137-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30929071" target="_blank">30929071</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27075944">Median cleft of the upper lip: A new classification to guide treatment decisions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Boutray M,
|
||
Beziat JL,
|
||
Yachouh J,
|
||
Bigorre M,
|
||
Gleizal A,
|
||
Captier G</span><br />
|
||
<span class="medgenPMjournal">J Craniomaxillofac Surg</span>
|
||
2016 Jun;44(6):664-71.
|
||
Epub 2016 Mar 2
|
||
doi: 10.1016/j.jcms.2016.02.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27075944" target="_blank">27075944</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Holoprosencephaly%205%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 (3)</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">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<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>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1864827%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (30)</a></li>
|
||
<li><a href="/gtr/tests?term=C1864827%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C1864827%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (25)</a></li>
|
||
<li><a href="/gtr/tests?term=C1864827%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1864827%5bDISCUI%5d" target="_blank">See all (38)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<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=609637" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Holoprosencephaly%205" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<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>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(holoprosencephaly%205)%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>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<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>
|
||
<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=603073" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=7546[geneid]" target="_blank">View ZIC2 variations in ClinVar</a></li><li><a href="/nuccore/163954919" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=609637" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<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="http://www.diseaseinfosearch.org/Holoprosencephaly+5/8562" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/holoprosencephaly_5_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Holoprosencephaly%205" target="_blank">MedlinePlus</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<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>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301702" 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=Holoprosencephaly%205" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Holoprosencephaly%205%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">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=355304" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=355304" ref="log$=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=C1864827[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1864827[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=355304" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=355304" ref="log$=recordlinks">NCBI Bookshelf</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=355304" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=355304" ref="log$=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=355304" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=355304" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=355304" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=355304" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=355304" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
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||
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||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
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