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<meta name="keywords" content="C5935609, disease or syndrome, nedhs, neurodevelopmental disorder with hypotonia and seizures, otud7a, 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="Neurodevelopmental disorder with hypotonia and seizures (NEDHS) is an autosomal recessive disorder characterized by hypotonia apparent from early infancy, global developmental delay with severely impaired intellectual development, and early-onset seizures. Heterozygous mutation carriers show a milder neurocognitive disorder with learning disabilities, similar to chromosome 15q13.3 deletion syndrome (Garret et al., 2020; Suzuki et al., 2021)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1857806
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||
ConceptID=C5935609
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Neurodevelopmental disorder with hypotonia and seizures<span class="h1sub">(NEDHS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1857806</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:">C5935609</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>NEDHS; NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES</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="OTUD7A - ID: 161725 - NCBI Gene" href="/gene/161725" class="medgenPMinfo">OTUD7A</a> (15q13.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0968979" target="_blank">MONDO:0968979</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/620790" target="_blank">620790</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">Neurodevelopmental disorder with hypotonia and seizures (NEDHS) is an autosomal recessive disorder characterized by hypotonia apparent from early infancy, global developmental delay with severely impaired intellectual development, and early-onset seizures. Heterozygous mutation carriers show a milder neurocognitive disorder with learning disabilities, similar to chromosome 15q13.3 deletion syndrome (Garret et al., 2020; Suzuki et al., 2021). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
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</div>
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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_488785"><div><strong>Macrotia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488785</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0152421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488785">Feature record</a> | <a href="/medgen?term=%22Macrotia%22%5BClinical%20Features%5D%20OR%20488785%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3232"><div><strong>Febrile seizure (within the age range of 3 months to 6 years)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3232</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.">C0009952</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3232">Feature record</a> | <a href="/medgen?term=%22Febrile%20seizure%20(within%20the%20age%20range%20of%203%20months%20to%206%20years)%22%5BClinical%20Features%5D%20OR%203232%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_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</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.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%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_108888"><div><strong>Atypical absence seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108888</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.">C0595948</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108888">Feature record</a> | <a href="/medgen?term=%22Atypical%20absence%20seizure%22%5BClinical%20Features%5D%20OR%20108888%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_195766"><div><strong>Hypsarrhythmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195766</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.">C0684276</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195766">Feature record</a> | <a href="/medgen?term=%22Hypsarrhythmia%22%5BClinical%20Features%5D%20OR%20195766%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_375826"><div><strong>Widened subarachnoid space</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375826</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.">C1846151</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in size of the anatomic space between the arachnoid membrane and pia mater.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375826">Feature record</a> | <a href="/medgen?term=%22Widened%20subarachnoid%20space%22%5BClinical%20Features%5D%20OR%20375826%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_854616"><div><strong>Infantile spasms</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854616</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.">C3887898</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854616">Feature record</a> | <a href="/medgen?term=%22Infantile%20spasms%22%5BClinical%20Features%5D%20OR%20854616%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1368737"><div><strong>Delayed ability to sit</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1368737</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.">C4476710</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 sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1368737">Feature record</a> | <a href="/medgen?term=%22Delayed%20ability%20to%20sit%22%5BClinical%20Features%5D%20OR%201368737%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1714075"><div><strong>Focal impaired awareness tonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1714075</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.">C5397734</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A focal tonic seizure in which awareness is partially or fully impaired at some point during the seizure.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1714075">Feature record</a> | <a href="/medgen?term=%22Focal%20impaired%20awareness%20tonic%20seizure%22%5BClinical%20Features%5D%20OR%201714075%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1785336"><div><strong>Thin corpus callosum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1785336</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.">C5441562</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1785336">Feature record</a> | <a href="/medgen?term=%22Thin%20corpus%20callosum%22%5BClinical%20Features%5D%20OR%201785336%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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_98391"><div><strong>Downslanted palpebral fissures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98391</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.">C0423110</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The palpebral fissure inclination is more than two standard deviations below the mean.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98391">Feature record</a> | <a href="/medgen?term=%22Downslanted%20palpebral%20fissures%22%5BClinical%20Features%5D%20OR%2098391%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326574"><div><strong>Tented upper lip vermilion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326574</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.">C1839767</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326574">Feature record</a> | <a href="/medgen?term=%22Tented%20upper%20lip%20vermilion%22%5BClinical%20Features%5D%20OR%20326574%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_98391" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Downslanted palpebral fissures</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326574" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tented upper lip vermilion</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_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li><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_108888" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atypical absence seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1368737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed ability to sit</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_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Febrile seizure (within the age range of 3 months to 6 years)</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1714075" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal impaired awareness tonic seizure</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_195766" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypsarrhythmia</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_854616" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile spasms</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1785336" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thin corpus callosum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_375826" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Widened subarachnoid space</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_488785" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrotia</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_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/37644171">CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oppermann H,
|
||
Marcos-Grañeda E,
|
||
Weiss LA,
|
||
Gurnett CA,
|
||
Jelsig AM,
|
||
Vineke SH,
|
||
Isidor B,
|
||
Mercier S,
|
||
Magnussen K,
|
||
Zacher P,
|
||
Hashim M,
|
||
Pagnamenta AT,
|
||
Race S,
|
||
Srivastava S,
|
||
Frazier Z,
|
||
Maiwald R,
|
||
Pergande M,
|
||
Milani D,
|
||
Rinelli M,
|
||
Levy J,
|
||
Krey I,
|
||
Fontana P,
|
||
Lonardo F,
|
||
Riley S,
|
||
Kretzer J,
|
||
Rankin J,
|
||
Reis LM,
|
||
Semina EV,
|
||
Reuter MS,
|
||
Scherer SW,
|
||
Iascone M,
|
||
Weis D,
|
||
Fagerberg CR,
|
||
Brasch-Andersen C,
|
||
Hansen LK,
|
||
Kuechler A,
|
||
Noble N,
|
||
Gardham A,
|
||
Tenney J,
|
||
Rathore G,
|
||
Beck-Woedl S,
|
||
Haack TB,
|
||
Pavlidou DC,
|
||
Atallah I,
|
||
Vodopiutz J,
|
||
Janecke AR,
|
||
Hsieh TC,
|
||
Lesmann H,
|
||
Klinkhammer H,
|
||
Krawitz PM,
|
||
Lemke JR,
|
||
Jamra RA,
|
||
Nieto M,
|
||
Tümer Z,
|
||
Platzer K</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2023 Nov;31(11):1251-1260.
|
||
Epub 2023 Aug 30
|
||
doi: 10.1038/s41431-023-01445-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37644171" target="_blank">37644171</a><a href="/pmc/articles/PMC10620399" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36216457">Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oyama N,
|
||
Vaneynde P,
|
||
Reynhout S,
|
||
Pao EM,
|
||
Timms A,
|
||
Fan X,
|
||
Foss K,
|
||
Derua R,
|
||
Janssens V,
|
||
Chung W,
|
||
Mirzaa GM</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2023 May;60(5):511-522.
|
||
Epub 2022 Oct 10
|
||
doi: 10.1136/jmg-2022-108713.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36216457" target="_blank">36216457</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33497949">A newborn case of adenylosuccinate lyase deficiency with a novel heterozygous mutation diagnosed by whole exome sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cakmak Celik F,
|
||
Ozlu MM,
|
||
Ceylaner S</span><br />
|
||
<span class="medgenPMjournal">Clin Neurol Neurosurg</span>
|
||
2021 Mar;202:106506.
|
||
Epub 2021 Jan 19
|
||
doi: 10.1016/j.clineuro.2021.106506.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33497949" target="_blank">33497949</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(neurodevelopmental%20disorder%20with%20hypotonia%20and%20seizures)%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 (26)</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/38135915">Developmental epileptic encephalopathy in DLG4-related synaptopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kassabian B,
|
||
Levy AM,
|
||
Gardella E,
|
||
Aledo-Serrano A,
|
||
Ananth AL,
|
||
Brea-Fernández AJ,
|
||
Caumes R,
|
||
Chatron N,
|
||
Dainelli A,
|
||
De Wachter M,
|
||
Denommé-Pichon AS,
|
||
Dye TJ,
|
||
Fazzi E,
|
||
Felt R,
|
||
Fernández-Jaén A,
|
||
Fernández-Prieto M,
|
||
Gantz E,
|
||
Gasperowicz P,
|
||
Gil-Nagel A,
|
||
Gómez-Andrés D,
|
||
Greiner HM,
|
||
Guerrini R,
|
||
Haanpää MK,
|
||
Helin M,
|
||
Hoyer J,
|
||
Hurst ACE,
|
||
Kallish S,
|
||
Karkare SN,
|
||
Khan A,
|
||
Kleinendorst L,
|
||
Koch J,
|
||
Kothare SV,
|
||
Koudijs SM,
|
||
Lagae L,
|
||
Lakeman P,
|
||
Leppig KA,
|
||
Lesca G,
|
||
Lopergolo D,
|
||
Lusk L,
|
||
Mackenzie A,
|
||
Mei D,
|
||
Møller RS,
|
||
Pereira EM,
|
||
Platzer K,
|
||
Quelin C,
|
||
Revah-Politi A,
|
||
Rheims S,
|
||
Rodríguez-Palmero A,
|
||
Rossi A,
|
||
Santorelli F,
|
||
Seinfeld S,
|
||
Sell E,
|
||
Stephenson D,
|
||
Szczaluba K,
|
||
Trinka E,
|
||
Umair M,
|
||
Van Esch H,
|
||
van Haelst MM,
|
||
Veenma DCM,
|
||
Weber S,
|
||
Weckhuysen S,
|
||
Zacher P,
|
||
Tümer Z,
|
||
Rubboli G</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2024 Apr;65(4):1029-1045.
|
||
Epub 2024 Feb 29
|
||
doi: 10.1111/epi.17876.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38135915" target="_blank">38135915</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33783954">Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sheppard SE,
|
||
Campbell IM,
|
||
Harr MH,
|
||
Gold N,
|
||
Li D,
|
||
Bjornsson HT,
|
||
Cohen JS,
|
||
Fahrner JA,
|
||
Fatemi A,
|
||
Harris JR,
|
||
Nowak C,
|
||
Stevens CA,
|
||
Grand K,
|
||
Au M,
|
||
Graham JM Jr,
|
||
Sanchez-Lara PA,
|
||
Campo MD,
|
||
Jones MC,
|
||
Abdul-Rahman O,
|
||
Alkuraya FS,
|
||
Bassetti JA,
|
||
Bergstrom K,
|
||
Bhoj E,
|
||
Dugan S,
|
||
Kaplan JD,
|
||
Derar N,
|
||
Gripp KW,
|
||
Hauser N,
|
||
Innes AM,
|
||
Keena B,
|
||
Kodra N,
|
||
Miller R,
|
||
Nelson B,
|
||
Nowaczyk MJ,
|
||
Rahbeeni Z,
|
||
Ben-Shachar S,
|
||
Shieh JT,
|
||
Slavotinek A,
|
||
Sobering AK,
|
||
Abbott MA,
|
||
Allain DC,
|
||
Amlie-Wolf L,
|
||
Au PYB,
|
||
Bedoukian E,
|
||
Beek G,
|
||
Barry J,
|
||
Berg J,
|
||
Bernstein JA,
|
||
Cytrynbaum C,
|
||
Chung BH,
|
||
Donoghue S,
|
||
Dorrani N,
|
||
Eaton A,
|
||
Flores-Daboub JA,
|
||
Dubbs H,
|
||
Felix CA,
|
||
Fong CT,
|
||
Fung JLF,
|
||
Gangaram B,
|
||
Goldstein A,
|
||
Greenberg R,
|
||
Ha TK,
|
||
Hersh J,
|
||
Izumi K,
|
||
Kallish S,
|
||
Kravets E,
|
||
Kwok PY,
|
||
Jobling RK,
|
||
Knight Johnson AE,
|
||
Kushner J,
|
||
Lee BH,
|
||
Levin B,
|
||
Lindstrom K,
|
||
Manickam K,
|
||
Mardach R,
|
||
McCormick E,
|
||
McLeod DR,
|
||
Mentch FD,
|
||
Minks K,
|
||
Muraresku C,
|
||
Nelson SF,
|
||
Porazzi P,
|
||
Pichurin PN,
|
||
Powell-Hamilton NN,
|
||
Powis Z,
|
||
Ritter A,
|
||
Rogers C,
|
||
Rohena L,
|
||
Ronspies C,
|
||
Schroeder A,
|
||
Stark Z,
|
||
Starr L,
|
||
Stoler J,
|
||
Suwannarat P,
|
||
Velinov M,
|
||
Weksberg R,
|
||
Wilnai Y,
|
||
Zadeh N,
|
||
Zand DJ,
|
||
Falk MJ,
|
||
Hakonarson H,
|
||
Zackai EH,
|
||
Quintero-Rivera F</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2021 Jun;185(6):1649-1665.
|
||
Epub 2021 Mar 30
|
||
doi: 10.1002/ajmg.a.62124.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33783954" target="_blank">33783954</a><a href="/pmc/articles/PMC8631250" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32553196">De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vissers LELM,
|
||
Kalvakuri S,
|
||
de Boer E,
|
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Geuer S,
|
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Oud M,
|
||
van Outersterp I,
|
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Kwint M,
|
||
Witmond M,
|
||
Kersten S,
|
||
Polla DL,
|
||
Weijers D,
|
||
Begtrup A,
|
||
McWalter K,
|
||
Ruiz A,
|
||
Gabau E,
|
||
Morton JEV,
|
||
Griffith C,
|
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Weiss K,
|
||
Gamble C,
|
||
Bartley J,
|
||
Vernon HJ,
|
||
Brunet K,
|
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Ruivenkamp C,
|
||
Kant SG,
|
||
Kruszka P,
|
||
Larson A,
|
||
Afenjar A,
|
||
Billette de Villemeur T,
|
||
Nugent K;
|
||
DDD Study,
|
||
Raymond FL,
|
||
Venselaar H,
|
||
Demurger F,
|
||
Soler-Alfonso C,
|
||
Li D,
|
||
Bhoj E,
|
||
Hayes I,
|
||
Hamilton NP,
|
||
Ahmad A,
|
||
Fisher R,
|
||
van den Born M,
|
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Willems M,
|
||
Sorlin A,
|
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Delanne J,
|
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Moutton S,
|
||
Christophe P,
|
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Mau-Them FT,
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Vitobello A,
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Goel H,
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Massingham L,
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Phornphutkul C,
|
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Schwab J,
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Keren B,
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Charles P,
|
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Vreeburg M,
|
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De Simone L,
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Hoganson G,
|
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Iascone M,
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Milani D,
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Evenepoel L,
|
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Revencu N,
|
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Ward DI,
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Burns K,
|
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Krantz I,
|
||
Raible SE,
|
||
Murrell JR,
|
||
Wood K,
|
||
Cho MT,
|
||
van Bokhoven H,
|
||
Muenke M,
|
||
Kleefstra T,
|
||
Bodmer R,
|
||
de Brouwer APM</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2020 Jul 2;107(1):164-172.
|
||
Epub 2020 Jun 17
|
||
doi: 10.1016/j.ajhg.2020.05.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32553196" target="_blank">32553196</a><a href="/pmc/articles/PMC7332645" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31353024">Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fischer-Zirnsak B,
|
||
Segebrecht L,
|
||
Schubach M,
|
||
Charles P,
|
||
Alderman E,
|
||
Brown K,
|
||
Cadieux-Dion M,
|
||
Cartwright T,
|
||
Chen Y,
|
||
Costin C,
|
||
Fehr S,
|
||
Fitzgerald KM,
|
||
Fleming E,
|
||
Foss K,
|
||
Ha T,
|
||
Hildebrand G,
|
||
Horn D,
|
||
Liu S,
|
||
Marco EJ,
|
||
McDonald M,
|
||
McWalter K,
|
||
Race S,
|
||
Rush ET,
|
||
Si Y,
|
||
Saunders C,
|
||
Slavotinek A,
|
||
Stockler-Ipsiroglu S,
|
||
Telegrafi A,
|
||
Thiffault I,
|
||
Torti E,
|
||
Tsai AC,
|
||
Wang X,
|
||
Zafar M,
|
||
Keren B,
|
||
Kornak U,
|
||
Boerkoel CF,
|
||
Mirzaa G,
|
||
Ehmke N</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2019 Sep 5;105(3):631-639.
|
||
Epub 2019 Jul 25
|
||
doi: 10.1016/j.ajhg.2019.07.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31353024" target="_blank">31353024</a><a href="/pmc/articles/PMC6731356" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30541864">SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vlaskamp DRM,
|
||
Shaw BJ,
|
||
Burgess R,
|
||
Mei D,
|
||
Montomoli M,
|
||
Xie H,
|
||
Myers CT,
|
||
Bennett MF,
|
||
XiangWei W,
|
||
Williams D,
|
||
Maas SM,
|
||
Brooks AS,
|
||
Mancini GMS,
|
||
van de Laar IMBH,
|
||
van Hagen JM,
|
||
Ware TL,
|
||
Webster RI,
|
||
Malone S,
|
||
Berkovic SF,
|
||
Kalnins RM,
|
||
Sicca F,
|
||
Korenke GC,
|
||
van Ravenswaaij-Arts CMA,
|
||
Hildebrand MS,
|
||
Mefford HC,
|
||
Jiang Y,
|
||
Guerrini R,
|
||
Scheffer IE</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2019 Jan 8;92(2):e96-e107.
|
||
Epub 2018 Dec 12
|
||
doi: 10.1212/WNL.0000000000006729.
|
||
<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>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20hypotonia%20and%20seizures%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 (130)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39718493">Case 336.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boitsios G,
|
||
Aeby A,
|
||
Andrei AM</span><br />
|
||
<span class="medgenPMjournal">Radiology</span>
|
||
2024 Dec;313(3):e240185.
|
||
doi: 10.1148/radiol.240185.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39718493" target="_blank">39718493</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37644171">CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oppermann H,
|
||
Marcos-Grañeda E,
|
||
Weiss LA,
|
||
Gurnett CA,
|
||
Jelsig AM,
|
||
Vineke SH,
|
||
Isidor B,
|
||
Mercier S,
|
||
Magnussen K,
|
||
Zacher P,
|
||
Hashim M,
|
||
Pagnamenta AT,
|
||
Race S,
|
||
Srivastava S,
|
||
Frazier Z,
|
||
Maiwald R,
|
||
Pergande M,
|
||
Milani D,
|
||
Rinelli M,
|
||
Levy J,
|
||
Krey I,
|
||
Fontana P,
|
||
Lonardo F,
|
||
Riley S,
|
||
Kretzer J,
|
||
Rankin J,
|
||
Reis LM,
|
||
Semina EV,
|
||
Reuter MS,
|
||
Scherer SW,
|
||
Iascone M,
|
||
Weis D,
|
||
Fagerberg CR,
|
||
Brasch-Andersen C,
|
||
Hansen LK,
|
||
Kuechler A,
|
||
Noble N,
|
||
Gardham A,
|
||
Tenney J,
|
||
Rathore G,
|
||
Beck-Woedl S,
|
||
Haack TB,
|
||
Pavlidou DC,
|
||
Atallah I,
|
||
Vodopiutz J,
|
||
Janecke AR,
|
||
Hsieh TC,
|
||
Lesmann H,
|
||
Klinkhammer H,
|
||
Krawitz PM,
|
||
Lemke JR,
|
||
Jamra RA,
|
||
Nieto M,
|
||
Tümer Z,
|
||
Platzer K</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2023 Nov;31(11):1251-1260.
|
||
Epub 2023 Aug 30
|
||
doi: 10.1038/s41431-023-01445-2.
|
||
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Drucker M,
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<span class="bold">PMID: </span><a href="/pubmed/36216457" target="_blank">36216457</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/35438214" target="_blank">35438214</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33783954">Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sheppard SE,
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Campbell IM,
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Rohena L,
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Ronspies C,
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Schroeder A,
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Stoler J,
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Suwannarat P,
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Weksberg R,
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Zand DJ,
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Falk MJ,
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Quintero-Rivera F</span><br />
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2021 Jun;185(6):1649-1665.
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Epub 2021 Mar 30
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doi: 10.1002/ajmg.a.62124.
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<span class="bold">PMID: </span><a href="/pubmed/33783954" target="_blank">33783954</a><a href="/pmc/articles/PMC8631250" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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||
<div class="nl"><a target="_blank" href="/pubmed/32097528">ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yates TM,
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Drucker M,
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Barnicoat A,
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Low K,
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Gerkes EH,
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Fry AE,
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Parker MJ,
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O'Driscoll M,
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Charles P,
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Cox H,
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Marey I,
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Keren B,
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Rinne T,
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McEntagart M,
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Ramachandran V,
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Drury S,
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Vansenne F,
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Sival DA,
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Herkert JC,
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Callewaert B,
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Tan WH,
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Balasubramanian M</span><br />
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<span class="medgenPMjournal">Hum Mutat</span>
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2020 May;41(5):1042-1050.
|
||
Epub 2020 Mar 5
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||
doi: 10.1002/humu.24001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32097528" target="_blank">32097528</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20hypotonia%20and%20seizures%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 (174)</a></div></div>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/36768582">Neuromuscular and Neuromuscular Junction Manifestations of the PURA-NDD: A Systematic Review of the Reported Symptoms and Potential Treatment Options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mroczek M,
|
||
Iyadurai S</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Jan 23;24(3)
|
||
doi: 10.3390/ijms24032260.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36768582" target="_blank">36768582</a><a href="/pmc/articles/PMC9917016" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34184825">Comprehensive investigation of the phenotype of MEF2C-related disorders in human patients: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cooley Coleman JA,
|
||
Sarasua SM,
|
||
Boccuto L,
|
||
Moore HW,
|
||
Skinner SA,
|
||
DeLuca JM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2021 Dec;185(12):3884-3894.
|
||
Epub 2021 Jun 29
|
||
doi: 10.1002/ajmg.a.62412.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34184825" target="_blank">34184825</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31879555">Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kolevzon A,
|
||
Delaby E,
|
||
Berry-Kravis E,
|
||
Buxbaum JD,
|
||
Betancur C</span><br />
|
||
<span class="medgenPMjournal">Mol Autism</span>
|
||
2019;10:50.
|
||
Epub 2019 Dec 24
|
||
doi: 10.1186/s13229-019-0291-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31879555" target="_blank">31879555</a><a href="/pmc/articles/PMC6930682" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20hypotonia%20and%20seizures%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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