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<meta name="keywords" content="C4748715, bagos, baker gordon syndrome, baker-gordon syndrome, disease or syndrome, infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome, infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, nedimae, neurodevelopmental disorder with involuntary movement and abnormal electroencephalogram, synaptotagmin 1-related neurodevelopmental disorder, syt1, syt1-related neurodevelopmental disorder, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Baker-Gordon syndrome (BAGOS) is a neurodevelopmental disorder characterized by infantile hypotonia, ophthalmic abnormalities, moderate to profound global developmental delay, poor or absent speech, behavioral abnormalities, hyperkinetic movements, and EEG abnormalities in the absence of overt seizures (summary by Baker et al., 2018)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1648431
|
||
ConceptID=C4748715
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome<span class="h1sub">(BAGOS; NEDIMAE)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648431</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C4748715</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>BAKER-GORDON SYNDROME; NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENT AND ABNORMAL ELECTROENCEPHALOGRAM</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (1217371005); SYT1-related neurodevelopmental disorder (1217371005); Synaptotagmin 1-related neurodevelopmental disorder (1217371005); Baker Gordon syndrome (1217371005)</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="SYT1 - ID: 6857 - NCBI Gene" href="/gene/6857" class="medgenPMinfo">SYT1</a> (12q21.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0033864" target="_blank">MONDO:0033864</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/618218" target="_blank">618218</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=522077">ORPHA522077</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Baker-Gordon syndrome (BAGOS) is a neurodevelopmental disorder characterized by infantile hypotonia, ophthalmic abnormalities, moderate to profound global developmental delay, poor or absent speech, behavioral abnormalities, hyperkinetic movements, and EEG abnormalities in the absence of overt seizures (summary by Baker et al., 2018). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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||
|
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<div class="portlet mgSection" id="ID_102">
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<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_1762829"><div><strong>Abnormal foot morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1762829</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.">C5399834</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the skeleton of foot.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1762829">Feature record</a> | <a href="/medgen?term=%22Abnormal%20foot%20morphology%22%5BClinical%20Features%5D%20OR%201762829%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65429"><div><strong>Feeding difficulties</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65429</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.">C0232466</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65429">Feature record</a> | <a href="/medgen?term=%22Feeding%20difficulties%22%5BClinical%20Features%5D%20OR%2065429%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1368658"><div><strong>Gastroesophageal reflux</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1368658</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.">C4317146</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1368658">Feature record</a> | <a href="/medgen?term=%22Gastroesophageal%20reflux%22%5BClinical%20Features%5D%20OR%201368658%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8514"><div><strong>Dyskinesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8514</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.">C0013384</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8514">Feature record</a> | <a href="/medgen?term=%22Dyskinesia%22%5BClinical%20Features%5D%20OR%208514%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3940"><div><strong>Dystonic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3940</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.">C0013421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3940">Feature record</a> | <a href="/medgen?term=%22Dystonic%20disorder%22%5BClinical%20Features%5D%20OR%203940%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11458"><div><strong>Sleep apnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11458</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.">C0037315</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11458">Feature record</a> | <a href="/medgen?term=%22Sleep%20apnea%22%5BClinical%20Features%5D%20OR%2011458%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21318"><div><strong>Motor stereotypies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21318</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.">C0038271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Individual Behavior</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Motor%20stereotypies%22%5BClinical%20Features%5D%20OR%2021318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_88371"><div><strong>Self-injurious behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>88371</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.">C0085271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Individual Behavior</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Self-aggression.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Self-injurious%20behavior%22%5BClinical%20Features%5D%20OR%2088371%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39313"><div><strong>Choreoathetosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39313</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.">C0085583</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39313">Feature record</a> | <a href="/medgen?term=%22Choreoathetosis%22%5BClinical%20Features%5D%20OR%2039313%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56235"><div><strong>EEG abnormality</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56235</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.">C0151611</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56235">Feature record</a> | <a href="/medgen?term=%22EEG%20abnormality%22%5BClinical%20Features%5D%20OR%2056235%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66034"><div><strong>Delayed ability to walk</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66034</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.">C0241726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66034">Feature record</a> | <a href="/medgen?term=%22Delayed%20ability%20to%20walk%22%5BClinical%20Features%5D%20OR%2066034%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82853"><div><strong>Athetoid cerebral palsy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82853</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.">C0270742</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82853">Feature record</a> | <a href="/medgen?term=%22Athetoid%20cerebral%20palsy%22%5BClinical%20Features%5D%20OR%2082853%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140884"><div><strong>Involuntary movements</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140884</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.">C0427086</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140884">Feature record</a> | <a href="/medgen?term=%22Involuntary%20movements%22%5BClinical%20Features%5D%20OR%20140884%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107860"><div><strong>Inability to walk</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107860</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.">C0560046</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Incapability to ambulate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107860">Feature record</a> | <a href="/medgen?term=%22Inability%20to%20walk%22%5BClinical%20Features%5D%20OR%20107860%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340737"><div><strong>Absent speech</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340737</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.">C1854882</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Complete lack of development of speech and language abilities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340737">Feature record</a> | <a href="/medgen?term=%22Absent%20speech%22%5BClinical%20Features%5D%20OR%20340737%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_854367"><div><strong>Hyperkinetic movements</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854367</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.">C3887506</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Motor hyperactivity with excessive movement of muscles of the body as a whole.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854367">Feature record</a> | <a href="/medgen?term=%22Hyperkinetic%20movements%22%5BClinical%20Features%5D%20OR%20854367%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11348"><div><strong>Scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11348</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.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen?term=%22Scoliosis%22%5BClinical%20Features%5D%20OR%2011348%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336793"><div><strong>Joint hypermobility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336793</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.">C1844820</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336793">Feature record</a> | <a href="/medgen?term=%22Joint%20hypermobility%22%5BClinical%20Features%5D%20OR%20336793%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_412209"><div><strong>Neonatal hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412209</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.">C2267233</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/412209">Feature record</a> | <a href="/medgen?term=%22Neonatal%20hypotonia%22%5BClinical%20Features%5D%20OR%20412209%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_151862"><div><strong>Epicanthus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>151862</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.">C0678230</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/151862">Feature record</a> | <a href="/medgen?term=%22Epicanthus%22%5BClinical%20Features%5D%20OR%20151862%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_222980"><div><strong>Smooth philtrum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>222980</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.">C1142533</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/222980">Feature record</a> | <a href="/medgen?term=%22Smooth%20philtrum%22%5BClinical%20Features%5D%20OR%20222980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343052"><div><strong>Short nose</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343052</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.">C1854114</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343052">Feature record</a> | <a href="/medgen?term=%22Short%20nose%22%5BClinical%20Features%5D%20OR%20343052%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_383839"><div><strong>Prominent nasal tip</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383839</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.">C1856118</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383839">Feature record</a> | <a href="/medgen?term=%22Prominent%20nasal%20tip%22%5BClinical%20Features%5D%20OR%20383839%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_355352"><div><strong>Thin upper lip vermilion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355352</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.">C1865017</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355352">Feature record</a> | <a href="/medgen?term=%22Thin%20upper%20lip%20vermilion%22%5BClinical%20Features%5D%20OR%20355352%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45166"><div><strong>Nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45166</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.">C0028738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45166">Feature record</a> | <a href="/medgen?term=%22Nystagmus%22%5BClinical%20Features%5D%20OR%2045166%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21337"><div><strong>Strabismus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21337</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.">C0038379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21337">Feature record</a> | <a href="/medgen?term=%22Strabismus%22%5BClinical%20Features%5D%20OR%2021337%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_777085"><div><strong>Visual impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>777085</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.">C3665347</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/777085">Feature record</a> | <a href="/medgen?term=%22Visual%20impairment%22%5BClinical%20Features%5D%20OR%20777085%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_151862" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epicanthus</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_383839" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prominent nasal tip</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343052" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short nose</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_222980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Smooth philtrum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_355352" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thin upper lip vermilion</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1762829" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal foot morphology</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65429" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feeding difficulties</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1368658" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastroesophageal reflux</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_45166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Strabismus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_777085" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Visual impairment</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_336793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joint hypermobility</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_412209" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neonatal hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scoliosis</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_340737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absent speech</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82853" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Athetoid cerebral palsy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39313" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Choreoathetosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed ability to walk</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8514" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskinesia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonic disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56235" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EEG abnormality</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_854367" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperkinetic movements</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107860" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inability to walk</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140884" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Involuntary movements</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor stereotypies</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_88371" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Self-injurious behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11458" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sleep apnea</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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4748715[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=1648431">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648431" target="_blank" href="/omim/185605">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=1648431" ref="ncbi_uid=1648431">V</a></span></span><span class="TLline">Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1843201" ref="tree=MeSH" title="MedGen record for Rare hyperkinetic movement disorder">Rare hyperkinetic movement disorder</a></span><ul><li><span class="matched_ds">Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome</span></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36263494">Diagnosis, Treatment and Prevention of Nutritional Anemia in Children: Recommendations of the Joint Committee of Pediatric Hematology-Oncology Chapter and Pediatric and Adolescent Nutrition Society of the Indian Academy of Pediatrics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chandra J,
|
||
Dewan P,
|
||
Kumar P,
|
||
Mahajan A,
|
||
Singh P,
|
||
Dhingra B,
|
||
Radhakrishnan N,
|
||
Sharma R,
|
||
Manglani M,
|
||
Rawat AK,
|
||
Gupta P,
|
||
Gomber S,
|
||
Bhat S,
|
||
Gaikwad P,
|
||
Elizabeth KE,
|
||
Bansal D,
|
||
Dubey AP,
|
||
Shah N,
|
||
Kini P,
|
||
Trehan A,
|
||
Datta K,
|
||
Basavraja GV,
|
||
Saxena V,
|
||
Kumar RR</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
2022 Oct 15;59(10):782-801.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36263494" target="_blank">36263494</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31497877">Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buers I,
|
||
Persico I,
|
||
Schöning L,
|
||
Nitschke Y,
|
||
Di Rocco M,
|
||
Loi A,
|
||
Sahi PK,
|
||
Utine GE,
|
||
Bayraktar-Tanyeri B,
|
||
Zampino G,
|
||
Crisponi G,
|
||
Rutsch F,
|
||
Crisponi L</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2020 Jan;97(1):209-221.
|
||
Epub 2019 Sep 16
|
||
doi: 10.1111/cge.13639.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31497877" target="_blank">31497877</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30514738">Kabuki syndrome: international consensus diagnostic criteria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adam MP,
|
||
Banka S,
|
||
Bjornsson HT,
|
||
Bodamer O,
|
||
Chudley AE,
|
||
Harris J,
|
||
Kawame H,
|
||
Lanpher BC,
|
||
Lindsley AW,
|
||
Merla G,
|
||
Miyake N,
|
||
Okamoto N,
|
||
Stumpel CT,
|
||
Niikawa N;
|
||
Kabuki Syndrome Medical Advisory Board</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2019 Feb;56(2):89-95.
|
||
Epub 2018 Dec 4
|
||
doi: 10.1136/jmedgenet-2018-105625.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30514738" target="_blank">30514738</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(infantile%20hypotonia-oculomotor%20anomalies-hyperkinetic%20movements-developmental%20delay%20syndrome)%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 (55)</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/36806388">Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aronica E,
|
||
Specchio N,
|
||
Luinenburg MJ,
|
||
Curatolo P</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Jul 3;146(7):2694-2710.
|
||
doi: 10.1093/brain/awad048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36806388" target="_blank">36806388</a><a href="/pmc/articles/PMC10316778" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36194365">Psychobehavioural and Cognitive Adverse Events of Anti-Seizure Medications for the Treatment of Developmental and Epileptic Encephalopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strzelczyk A,
|
||
Schubert-Bast S</span><br />
|
||
<span class="medgenPMjournal">CNS Drugs</span>
|
||
2022 Oct;36(10):1079-1111.
|
||
Epub 2022 Oct 4
|
||
doi: 10.1007/s40263-022-00955-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36194365" target="_blank">36194365</a><a href="/pmc/articles/PMC9531646" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32954514">Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bar C,
|
||
Kuchenbuch M,
|
||
Barcia G,
|
||
Schneider A,
|
||
Jennesson M,
|
||
Le Guyader G,
|
||
Lesca G,
|
||
Mignot C,
|
||
Montomoli M,
|
||
Parrini E,
|
||
Isnard H,
|
||
Rolland A,
|
||
Keren B,
|
||
Afenjar A,
|
||
Dorison N,
|
||
Sadleir LG,
|
||
Breuillard D,
|
||
Levy R,
|
||
Rio M,
|
||
Dupont S,
|
||
Negrin S,
|
||
Danieli A,
|
||
Scalais E,
|
||
De Saint Martin A,
|
||
El Chehadeh S,
|
||
Chelly J,
|
||
Poisson A,
|
||
Lebre AS,
|
||
Nica A,
|
||
Odent S,
|
||
Sekhara T,
|
||
Brankovic V,
|
||
Goldenberg A,
|
||
Vrielynck P,
|
||
Lederer D,
|
||
Maurey H,
|
||
Terrone G,
|
||
Besmond C,
|
||
Hubert L,
|
||
Berquin P,
|
||
Billette de Villemeur T,
|
||
Isidor B,
|
||
Freeman JL,
|
||
Mefford HC,
|
||
Myers CT,
|
||
Howell KB,
|
||
Rodríguez-Sacristán Cascajo A,
|
||
Meyer P,
|
||
Genevieve D,
|
||
Guët A,
|
||
Doummar D,
|
||
Durigneux J,
|
||
van Dooren MF,
|
||
de Wit MCY,
|
||
Gerard M,
|
||
Marey I,
|
||
Munnich A,
|
||
Guerrini R,
|
||
Scheffer IE,
|
||
Kabashi E,
|
||
Nabbout R</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2020 Nov;61(11):2461-2473.
|
||
Epub 2020 Sep 21
|
||
doi: 10.1111/epi.16679.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32954514" target="_blank">32954514</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30514738">Kabuki syndrome: international consensus diagnostic criteria.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Adam MP,
|
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Banka S,
|
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Bjornsson HT,
|
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Bodamer O,
|
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Chudley AE,
|
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Harris J,
|
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Kawame H,
|
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Lanpher BC,
|
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Lindsley AW,
|
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Merla G,
|
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Miyake N,
|
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Okamoto N,
|
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Stumpel CT,
|
||
Niikawa N;
|
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Kabuki Syndrome Medical Advisory Board</span><br />
|
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<span class="medgenPMjournal">J Med Genet</span>
|
||
2019 Feb;56(2):89-95.
|
||
Epub 2018 Dec 4
|
||
doi: 10.1136/jmedgenet-2018-105625.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30514738" target="_blank">30514738</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22237428">Prader-Willi syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cassidy SB,
|
||
Schwartz S,
|
||
Miller JL,
|
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Driscoll DJ</span><br />
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<span class="medgenPMjournal">Genet Med</span>
|
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2012 Jan;14(1):10-26.
|
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Epub 2011 Sep 26
|
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doi: 10.1038/gim.0b013e31822bead0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22237428" target="_blank">22237428</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Infantile%20hypotonia-oculomotor%20anomalies-hyperkinetic%20movements-developmental%20delay%20syndrome%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 (312)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34842596">Update on Food protein-induced enterocolitis syndrome (FPIES).</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Calvani M,
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Anania C,
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Bianchi A,
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D'Auria E,
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Cardinale F,
|
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Votto M,
|
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Martelli A,
|
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Tosca M,
|
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Chiappini E,
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Brambilla I,
|
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Miraglia Del Giudice M,
|
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Caffarelli C</span><br />
|
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<span class="medgenPMjournal">Acta Biomed</span>
|
||
2021 Nov 29;92(S7):e2021518.
|
||
doi: 10.23750/abm.v92iS7.12394.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34842596" target="_blank">34842596</a><a href="/pmc/articles/PMC9431892" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32827285">West syndrome: a comprehensive review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pavone P,
|
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Polizzi A,
|
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Marino SD,
|
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Corsello G,
|
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Falsaperla R,
|
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Marino S,
|
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Ruggieri M</span><br />
|
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<span class="medgenPMjournal">Neurol Sci</span>
|
||
2020 Dec;41(12):3547-3562.
|
||
Epub 2020 Aug 22
|
||
doi: 10.1007/s10072-020-04600-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32827285" target="_blank">32827285</a><a href="/pmc/articles/PMC7655587" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30514738">Kabuki syndrome: international consensus diagnostic criteria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adam MP,
|
||
Banka S,
|
||
Bjornsson HT,
|
||
Bodamer O,
|
||
Chudley AE,
|
||
Harris J,
|
||
Kawame H,
|
||
Lanpher BC,
|
||
Lindsley AW,
|
||
Merla G,
|
||
Miyake N,
|
||
Okamoto N,
|
||
Stumpel CT,
|
||
Niikawa N;
|
||
Kabuki Syndrome Medical Advisory Board</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2019 Feb;56(2):89-95.
|
||
Epub 2018 Dec 4
|
||
doi: 10.1136/jmedgenet-2018-105625.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30514738" target="_blank">30514738</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30076047">The glucose transporter type 1 (Glut1) syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koch H,
|
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Weber YG</span><br />
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<span class="medgenPMjournal">Epilepsy Behav</span>
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2019 Feb;91:90-93.
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Epub 2018 Jul 31
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doi: 10.1016/j.yebeh.2018.06.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30076047" target="_blank">30076047</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22237428">Prader-Willi syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cassidy SB,
|
||
Schwartz S,
|
||
Miller JL,
|
||
Driscoll DJ</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2012 Jan;14(1):10-26.
|
||
Epub 2011 Sep 26
|
||
doi: 10.1038/gim.0b013e31822bead0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22237428" target="_blank">22237428</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Infantile%20hypotonia-oculomotor%20anomalies-hyperkinetic%20movements-developmental%20delay%20syndrome%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 (515)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36806388">Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Aronica E,
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Specchio N,
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Luinenburg MJ,
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Curatolo P</span><br />
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<span class="medgenPMjournal">Brain</span>
|
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2023 Jul 3;146(7):2694-2710.
|
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doi: 10.1093/brain/awad048.
|
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<span class="bold">PMID: </span><a href="/pubmed/36806388" target="_blank">36806388</a><a href="/pmc/articles/PMC10316778" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36263494">Diagnosis, Treatment and Prevention of Nutritional Anemia in Children: Recommendations of the Joint Committee of Pediatric Hematology-Oncology Chapter and Pediatric and Adolescent Nutrition Society of the Indian Academy of Pediatrics.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chandra J,
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Dewan P,
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Kumar P,
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Mahajan A,
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Singh P,
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Dhingra B,
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Radhakrishnan N,
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Sharma R,
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Manglani M,
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Rawat AK,
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Gupta P,
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Gomber S,
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Bhat S,
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Gaikwad P,
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Elizabeth KE,
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Bansal D,
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Dubey AP,
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Shah N,
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Kini P,
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Trehan A,
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Datta K,
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Basavraja GV,
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Saxena V,
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Kumar RR</span><br />
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<span class="medgenPMjournal">Indian Pediatr</span>
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2022 Oct 15;59(10):782-801.
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<span class="bold">PMID: </span><a href="/pubmed/36263494" target="_blank">36263494</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34842596">Update on Food protein-induced enterocolitis syndrome (FPIES).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Calvani M,
|
||
Anania C,
|
||
Bianchi A,
|
||
D'Auria E,
|
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Cardinale F,
|
||
Votto M,
|
||
Martelli A,
|
||
Tosca M,
|
||
Chiappini E,
|
||
Brambilla I,
|
||
Miraglia Del Giudice M,
|
||
Caffarelli C</span><br />
|
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<span class="medgenPMjournal">Acta Biomed</span>
|
||
2021 Nov 29;92(S7):e2021518.
|
||
doi: 10.23750/abm.v92iS7.12394.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34842596" target="_blank">34842596</a><a href="/pmc/articles/PMC9431892" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/30541864">SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Vlaskamp DRM,
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Shaw BJ,
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Burgess R,
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Mei D,
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Montomoli M,
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Xie H,
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Myers CT,
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Bennett MF,
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XiangWei W,
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Williams D,
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Maas SM,
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Brooks AS,
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Mancini GMS,
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van de Laar IMBH,
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van Hagen JM,
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Ware TL,
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Webster RI,
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Malone S,
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Berkovic SF,
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Kalnins RM,
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Sicca F,
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Korenke GC,
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van Ravenswaaij-Arts CMA,
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Hildebrand MS,
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Mefford HC,
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Jiang Y,
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Guerrini R,
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Scheffer IE</span><br />
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<span class="medgenPMjournal">Neurology</span>
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2019 Jan 8;92(2):e96-e107.
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Epub 2018 Dec 12
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doi: 10.1212/WNL.0000000000006729.
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<span class="bold">PMID: </span><a href="/pubmed/30541864" target="_blank">30541864</a><a href="/pmc/articles/PMC6340340" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/14596657">Infantile spasms.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zupanc ML</span><br />
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<span class="medgenPMjournal">Expert Opin Pharmacother</span>
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<span class="bold">PMID: </span><a href="/pubmed/14596657" target="_blank">14596657</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Infantile%20hypotonia-oculomotor%20anomalies-hyperkinetic%20movements-developmental%20delay%20syndrome%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 (168)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/36806388">Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Aronica E,
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Specchio N,
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Luinenburg MJ,
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Curatolo P</span><br />
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<span class="medgenPMjournal">Brain</span>
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2023 Jul 3;146(7):2694-2710.
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doi: 10.1093/brain/awad048.
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<span class="bold">PMID: </span><a href="/pubmed/36806388" target="_blank">36806388</a><a href="/pmc/articles/PMC10316778" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/36757831">The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Saffari A,
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Lau T,
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Tajsharghi H,
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Karimiani EG,
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Kariminejad A,
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Efthymiou S,
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Zifarelli G,
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Sultan T,
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Toosi MB,
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Sedighzadeh S,
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Siu VM,
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Ortigoza-Escobar JD,
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AlShamsi AM,
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Ibrahim S,
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Al-Sannaa NA,
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Al-Hertani W,
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Sandra W,
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Tarnopolsky M,
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Alavi S,
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Li C,
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Day-Salvatore DL,
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Martínez-González MJ,
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Levandoski KM,
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Bedoukian E,
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Madan-Khetarpal S,
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Idleburg MJ,
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Menezes MJ,
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Siddharth A,
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Platzer K,
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Oppermann H,
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Smitka M,
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Collins F,
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Lek M,
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Shahrooei M,
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Ghavideldarestani M,
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Herman I,
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Rendu J,
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Faure J,
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Baker J,
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Bhambhani V,
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Calderwood L,
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Akhondian J,
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Imannezhad S,
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Mirzadeh HS,
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Hashemi N,
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Safi M,
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Ahangari N,
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Salpietro V,
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Gulec EY,
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Eshaghian S,
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Ghazavi M,
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Pascher MT,
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Rieubland C,
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Strom TM,
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Lochmüller H,
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Mohammadi MH,
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Alvi JR,
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Zackai EH,
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Keena BA,
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Skraban CM,
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Berger SI,
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Andrew EH,
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Rahimian E,
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Morrow MM,
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Wentzensen IM,
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Millan F,
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Henderson LB,
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Dafsari HS,
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Jungbluth H,
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Gomez-Ospina N,
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McRae A,
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Peter M,
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Veltra D,
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Marinakis NM,
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Sofocleous C,
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Ashrafzadeh F,
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Pehlivan D,
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Lemke JR,
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Melki J,
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Benezit A,
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Bauer P,
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Lupski JR,
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Senderek J,
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Christodoulou J,
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Chung WK,
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Goodchild R,
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Offiah AC,
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Moreno-De-Luca A,
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Suri M,
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Ebrahimi-Fakhari D,
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Houlden H,
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Maroofian R</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/36757831" target="_blank">36757831</a><a href="/pmc/articles/PMC10393417" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32954514">Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bar C,
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Kuchenbuch M,
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Sadleir LG,
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Levy R,
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Danieli A,
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Chelly J,
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Nica A,
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Gerard M,
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Marey I,
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Guerrini R,
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Scheffer IE,
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Kabashi E,
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Nabbout R</span><br />
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<span class="medgenPMjournal">Epilepsia</span>
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2020 Nov;61(11):2461-2473.
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Epub 2020 Sep 21
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doi: 10.1111/epi.16679.
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<span class="bold">PMID: </span><a href="/pubmed/32954514" target="_blank">32954514</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32827285">West syndrome: a comprehensive review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pavone P,
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Polizzi A,
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Marino SD,
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Corsello G,
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Falsaperla R,
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Marino S,
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Ruggieri M</span><br />
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<span class="medgenPMjournal">Neurol Sci</span>
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2020 Dec;41(12):3547-3562.
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Epub 2020 Aug 22
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doi: 10.1007/s10072-020-04600-5.
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<span class="bold">PMID: </span><a href="/pubmed/32827285" target="_blank">32827285</a><a href="/pmc/articles/PMC7655587" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25165189">Nephropathic cystinosis: an international consensus document.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Emma F,
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Nesterova G,
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Langman C,
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Labbé A,
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Goodyer P,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Infantile%20hypotonia-oculomotor%20anomalies-hyperkinetic%20movements-developmental%20delay%20syndrome%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 (239)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="portlet_content ln"><span class="medgenPMauthor">Knupp KG,
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<div class="nl"><a target="_blank" href="/pubmed/36263494">Diagnosis, Treatment and Prevention of Nutritional Anemia in Children: Recommendations of the Joint Committee of Pediatric Hematology-Oncology Chapter and Pediatric and Adolescent Nutrition Society of the Indian Academy of Pediatrics.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Stephenson SEM,
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Scala M,
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Accogli A,
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Schenck A,
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Lockhart PJ,
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<span class="bold">PMID: </span><a href="/pubmed/35395208" target="_blank">35395208</a><a href="/pmc/articles/PMC9069070" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27621198">Sialidoses.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Franceschetti S,
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Canafoglia L</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/27621198" target="_blank">27621198</a></div>
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||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Infantile%20hypotonia-oculomotor%20anomalies-hyperkinetic%20movements-developmental%20delay%20syndrome%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 (239)</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/38791237">NR4A2 as a Novel Target Gene for Developmental and Epileptic Encephalopathy: A Systematic Review of Related Disorders and Therapeutic Strategies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gabaldon-Albero A,
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Mayo S,
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Martinez F</span><br />
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<span class="medgenPMjournal">Int J Mol Sci</span>
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2024 May 10;25(10)
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doi: 10.3390/ijms25105198.
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<span class="bold">PMID: </span><a href="/pubmed/38791237" target="_blank">38791237</a><a href="/pmc/articles/PMC11120677" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38116687">Does the absence or presence of sleep spindles on EEG have prognostic value for cognitive outcome in children with infantile epileptic spasms syndrome? A systematic literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lähdetie J,
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Muñoz-Ruiz M,
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Kokki H</span><br />
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<span class="medgenPMjournal">Epileptic Disord</span>
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2024 Feb;26(1):60-68.
|
||
Epub 2024 Jan 18
|
||
doi: 10.1002/epd2.20192.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38116687" target="_blank">38116687</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33022299">Psychiatric symptoms in anti glutamic acid decarboxylase associated limbic encephalitis in adults: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vrillon A,
|
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Carle G,
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Berzero G,
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Honnorat J,
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Huberfeld G,
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Psimaras D,
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Azuar C</span><br />
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<span class="medgenPMjournal">Neurosci Biobehav Rev</span>
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2020 Dec;119:128-137.
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Epub 2020 Oct 3
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<span class="bold">PMID: </span><a href="/pubmed/33022299" target="_blank">33022299</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32800686">Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Masnada S,
|
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Parazzini C,
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Bini P,
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Barbarini M,
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Alberti L,
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Valente M,
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Chiapparini L,
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De Silvestri A,
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Doneda C,
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Iascone M,
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Saielli LA,
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Cereda C,
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Veggiotti P,
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Corbetta C,
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Tonduti D</span><br />
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<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
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2020 Sep;28:151-158.
|
||
Epub 2020 Jul 29
|
||
doi: 10.1016/j.ejpn.2020.07.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32800686" target="_blank">32800686</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23450537">Treatment of Lennox-Gastaut syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hancock EC,
|
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Cross JH</span><br />
|
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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2013 Feb 28;2013(2):CD003277.
|
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doi: 10.1002/14651858.CD003277.pub3.
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<span class="bold">PMID: </span><a href="/pubmed/23450537" target="_blank">23450537</a><a href="/pmc/articles/PMC7144815" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Infantile%20hypotonia-oculomotor%20anomalies-hyperkinetic%20movements-developmental%20delay%20syndrome%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div></div>
|
||
</div>
|
||
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<div class="supplemental col three_col last">
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4748715%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4748715%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
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