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<meta name="keywords" content="C5774208, chka, disease or syndrome, nedmims, neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, 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 microcephaly, movement abnormalities, and seizures (NEDMIMS) is an autosomal recessive disorder characterized by severe global developmental delay apparent from infancy, impaired intellectual development, progressive microcephaly, and early-onset seizures that may be refractory to treatment. Affected individuals have poor overall growth and may have various movement abnormalities, including hypo- and hypertonia. Behavioral problems may also be observed (Klockner et al., 2022)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1823981
|
||
ConceptID=C5774208
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures<span class="h1sub">(NEDMIMS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823981</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:">C5774208</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>NEDMIMS</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="CHKA - ID: 1119 - NCBI Gene" href="/gene/1119" class="medgenPMinfo">CHKA</a> (11q13.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0859282" target="_blank">MONDO:0859282</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/620023" target="_blank">620023</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 microcephaly, movement abnormalities, and seizures (NEDMIMS) is an autosomal recessive disorder characterized by severe global developmental delay apparent from infancy, impaired intellectual development, progressive microcephaly, and early-onset seizures that may be refractory to treatment. Affected individuals have poor overall growth and may have various movement abnormalities, including hypo- and hypertonia. Behavioral problems may also be observed (Klockner et al., 2022). [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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<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_98227"><div><strong>Nephrolithiasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98227</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.">C0392525</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of calculi (stones) in the kidneys.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98227">Feature record</a> | <a href="/medgen?term=%22Nephrolithiasis%22%5BClinical%20Features%5D%20OR%2098227%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</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.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%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_1375"><div><strong>Aggressive behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1375</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.">C0001807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Individual Behavior</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Aggressive%20behavior%22%5BClinical%20Features%5D%20OR%201375%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_52372"><div><strong>Sleep abnormality</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52372</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.">C0037317</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal pattern in the quality, quantity, or characteristics of sleep.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52372">Feature record</a> | <a href="/medgen?term=%22Sleep%20abnormality%22%5BClinical%20Features%5D%20OR%2052372%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_57738"><div><strong>Hyperreflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57738</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0151889</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/57738">Feature record</a> | <a href="/medgen?term=%22Hyperreflexia%22%5BClinical%20Features%5D%20OR%2057738%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_98406"><div><strong>Hyperactivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98406</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.">C0424295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/98406">Feature record</a> | <a href="/medgen?term=%22Hyperactivity%22%5BClinical%20Features%5D%20OR%2098406%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_452596"><div><strong>Epileptic encephalopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>452596</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.">C0543888</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/452596">Feature record</a> | <a href="/medgen?term=%22Epileptic%20encephalopathy%22%5BClinical%20Features%5D%20OR%20452596%5Buid%5D">Search on this feature</a></div></div>
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||
<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>
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<div class="spaceAbove">Incapability to ambulate.</div>
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<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>
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||
<div class="divPopper rprt" id="clin_163547"><div><strong>Autistic behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163547</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.">C0856975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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||
<div class="spaceAbove">Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/163547">Feature record</a> | <a href="/medgen?term=%22Autistic%20behavior%22%5BClinical%20Features%5D%20OR%20163547%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332436"><div><strong>Severe global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332436</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.">C1837397</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">A severe delay in the achievement of motor or mental milestones in the domains of development of a child.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332436">Feature record</a> | <a href="/medgen?term=%22Severe%20global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20332436%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332508"><div><strong>Delayed gross motor development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332508</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.">C1837658</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332508">Feature record</a> | <a href="/medgen?term=%22Delayed%20gross%20motor%20development%22%5BClinical%20Features%5D%20OR%20332508%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>
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<div class="spaceAbove">Complete lack of development of speech and language abilities.</div>
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||
<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_892446"><div><strong>CNS hypomyelination</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892446</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.">C4025616</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892446">Feature record</a> | <a href="/medgen?term=%22CNS%20hypomyelination%22%5BClinical%20Features%5D%20OR%20892446%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>
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||
<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_10132"><div><strong>Hypertonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10132</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.">C0026826</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10132">Feature record</a> | <a href="/medgen?term=%22Hypertonia%22%5BClinical%20Features%5D%20OR%2010132%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7752"><div><strong>Rigidity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7752</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.">C0026837</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
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||
<div class="spaceAbove">Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7752">Feature record</a> | <a href="/medgen?term=%22Rigidity%22%5BClinical%20Features%5D%20OR%207752%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>
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||
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
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||
<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_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66814"><div><strong>High palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66814</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0240635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66814">Feature record</a> | <a href="/medgen?term=%22High%20palate%22%5BClinical%20Features%5D%20OR%2066814%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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_890568"><div><strong>Cerebral visual impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>890568</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.">C4048268</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/890568">Feature record</a> | <a href="/medgen?term=%22Cerebral%20visual%20impairment%22%5BClinical%20Features%5D%20OR%20890568%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_66814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High palate</a></span></li></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></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_890568" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral visual impairment</a></span></li><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></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98227" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephrolithiasis</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_10132" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7752" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rigidity</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_1375" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aggressive behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163547" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autistic behavior</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_892446" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CNS hypomyelination</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332508" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed gross motor development</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_452596" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epileptic encephalopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98406" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperactivity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperreflexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_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_332436" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52372" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sleep abnormality</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></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</a></span></li></ul></li></ul></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/38996765">Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mohammadi NA,
|
||
Ahring PK,
|
||
Yu Liao VW,
|
||
Chua HC,
|
||
Ortiz de la Rosa S,
|
||
Johannesen KM,
|
||
Michaeli-Yossef Y,
|
||
Vincent-Devulder A,
|
||
Meridda C,
|
||
Bruel AL,
|
||
Rossi A,
|
||
Patel C,
|
||
Klepper J,
|
||
Bonanni P,
|
||
Minghetti S,
|
||
Trivisano M,
|
||
Specchio N,
|
||
Amor D,
|
||
Auvin S,
|
||
Baer S,
|
||
Meyer P,
|
||
Milh M,
|
||
Salpietro V,
|
||
Maroofian R,
|
||
Lemke JR,
|
||
Weckhuysen S,
|
||
Christophersen P,
|
||
Rubboli G,
|
||
Chebib M,
|
||
Jensen AA,
|
||
Absalom NL,
|
||
Møller RS</span><br />
|
||
<span class="medgenPMjournal">EBioMedicine</span>
|
||
2024 Aug;106:105236.
|
||
Epub 2024 Jul 11
|
||
doi: 10.1016/j.ebiom.2024.105236.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38996765" target="_blank">38996765</a><a href="/pmc/articles/PMC11296288" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38070825">GRM7-related disorder: five additional patients from three independent families and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Januel L,
|
||
Chatron N,
|
||
Rivier-Ringenbach C,
|
||
Cabet S,
|
||
Labalme A,
|
||
Sahin Y,
|
||
Darvish H,
|
||
Kruer M,
|
||
Bakhtiari S,
|
||
Sanlaville D,
|
||
de Sainte Agathe JM,
|
||
Lesca G</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2024 Feb;67:104893.
|
||
Epub 2023 Dec 8
|
||
doi: 10.1016/j.ejmg.2023.104893.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38070825" target="_blank">38070825</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37197784">Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Justel M,
|
||
Jou C,
|
||
Sariego-Jamardo A,
|
||
Juliá-Palacios NA,
|
||
Ortez C,
|
||
Poch ML,
|
||
Hedrera-Fernandez A,
|
||
Gomez-Martin H,
|
||
Codina A,
|
||
Dominguez-Carral J,
|
||
Muxart J,
|
||
Hernández-Laín A,
|
||
Vila-Bedmar S,
|
||
Zulaica M,
|
||
Cancho-Candela R,
|
||
Castro MDC,
|
||
de la Osa-Langreo A,
|
||
Peña-Valenceja A,
|
||
Marcos-Vadillo E,
|
||
Prieto-Matos P,
|
||
Pascual-Pascual SI,
|
||
López de Munain A,
|
||
Camacho A,
|
||
Estevez-Arias B,
|
||
Musokhranova U,
|
||
Olivella M,
|
||
Oyarzábal A,
|
||
Jimenez-Mallebrera C,
|
||
Domínguez-González C,
|
||
Nascimento A,
|
||
García-Cazorla À,
|
||
Natera-de Benito D</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2023 Oct;60(10):965-973.
|
||
Epub 2023 May 16
|
||
doi: 10.1136/jmg-2022-109132.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37197784" target="_blank">37197784</a><a href="/pmc/articles/PMC10579479" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36226339">Spastic paraplegia 51: phenotypic spectrum related to novel homozygous AP4E1 mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manoochehri J,
|
||
Goodarzi HR,
|
||
Tabei SMB</span><br />
|
||
<span class="medgenPMjournal">J Genet</span>
|
||
2022;101
|
||
<span class="bold">PMID: </span><a href="/pubmed/36226339" target="_blank">36226339</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24886362">Natural course of pontocerebellar hypoplasia type 2A.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sánchez-Albisua I,
|
||
Frölich S,
|
||
Barth PG,
|
||
Steinlin M,
|
||
Krägeloh-Mann I</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2014 May 5;9:70.
|
||
doi: 10.1186/1750-1172-9-70.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24886362" target="_blank">24886362</a><a href="/pmc/articles/PMC4019562" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20microcephaly%2C%20movement%20abnormalities%2C%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 (16)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38996765">Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mohammadi NA,
|
||
Ahring PK,
|
||
Yu Liao VW,
|
||
Chua HC,
|
||
Ortiz de la Rosa S,
|
||
Johannesen KM,
|
||
Michaeli-Yossef Y,
|
||
Vincent-Devulder A,
|
||
Meridda C,
|
||
Bruel AL,
|
||
Rossi A,
|
||
Patel C,
|
||
Klepper J,
|
||
Bonanni P,
|
||
Minghetti S,
|
||
Trivisano M,
|
||
Specchio N,
|
||
Amor D,
|
||
Auvin S,
|
||
Baer S,
|
||
Meyer P,
|
||
Milh M,
|
||
Salpietro V,
|
||
Maroofian R,
|
||
Lemke JR,
|
||
Weckhuysen S,
|
||
Christophersen P,
|
||
Rubboli G,
|
||
Chebib M,
|
||
Jensen AA,
|
||
Absalom NL,
|
||
Møller RS</span><br />
|
||
<span class="medgenPMjournal">EBioMedicine</span>
|
||
2024 Aug;106:105236.
|
||
Epub 2024 Jul 11
|
||
doi: 10.1016/j.ebiom.2024.105236.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38996765" target="_blank">38996765</a><a href="/pmc/articles/PMC11296288" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38564972">TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corona-Rivera JR,
|
||
Martínez-Duncker I,
|
||
Morava E,
|
||
Ranatunga W,
|
||
Salinas-Marin R,
|
||
González-Jaimes AM,
|
||
Castillo-Reyes KA,
|
||
Peña-Padilla C,
|
||
Bobadilla-Morales L,
|
||
Corona-Rivera A,
|
||
Orozco-Vela M,
|
||
Brukman-Jiménez SA</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2024 May;142(1):108469.
|
||
Epub 2024 Mar 28
|
||
doi: 10.1016/j.ymgme.2024.108469.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38564972" target="_blank">38564972</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36731496">Genetic and clinical variations of developmental epileptic encephalopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaya Özçora GD,
|
||
Söbü E,
|
||
Gümüş U</span><br />
|
||
<span class="medgenPMjournal">Neurol Res</span>
|
||
2023 Mar;45(3):226-233.
|
||
Epub 2023 Feb 2
|
||
doi: 10.1080/01616412.2023.2170917.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36731496" target="_blank">36731496</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26480021">Angelman syndrome: A review highlighting musculoskeletal and anatomical aberrations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sachdeva R,
|
||
Donkers SJ,
|
||
Kim SY</span><br />
|
||
<span class="medgenPMjournal">Clin Anat</span>
|
||
2016 Jul;29(5):561-7.
|
||
Epub 2015 Nov 17
|
||
doi: 10.1002/ca.22659.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26480021" target="_blank">26480021</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21962875">Glut1 deficiency: when to suspect and how to diagnose?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verrotti A,
|
||
D'Egidio C,
|
||
Agostinelli S,
|
||
Gobbi G</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2012 Jan;16(1):3-9.
|
||
Epub 2011 Oct 1
|
||
doi: 10.1016/j.ejpn.2011.09.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21962875" target="_blank">21962875</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20microcephaly%2C%20movement%20abnormalities%2C%20and%20seizures%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 (33)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34528170">Emerging Gene and Small Molecule Therapies for the Neurodevelopmental Disorder Angelman Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Copping NA,
|
||
McTighe SM,
|
||
Fink KD,
|
||
Silverman JL</span><br />
|
||
<span class="medgenPMjournal">Neurotherapeutics</span>
|
||
2021 Jul;18(3):1535-1547.
|
||
Epub 2021 Sep 15
|
||
doi: 10.1007/s13311-021-01082-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34528170" target="_blank">34528170</a><a href="/pmc/articles/PMC8608975" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29556033">A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Suzuki-Muromoto S,
|
||
Wakusawa K,
|
||
Miyabayashi T,
|
||
Sato R,
|
||
Okubo Y,
|
||
Endo W,
|
||
Inui T,
|
||
Togashi N,
|
||
Kato A,
|
||
Oba H,
|
||
Nakashima M,
|
||
Saitsu H,
|
||
Matsumoto N,
|
||
Haginoya K</span><br />
|
||
<span class="medgenPMjournal">J Hum Genet</span>
|
||
2018 Jun;63(6):749-753.
|
||
Epub 2018 Mar 19
|
||
doi: 10.1038/s10038-018-0432-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29556033" target="_blank">29556033</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16149086">Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Friedman JR,
|
||
Thiele EA,
|
||
Wang D,
|
||
Levine KB,
|
||
Cloherty EK,
|
||
Pfeifer HH,
|
||
De Vivo DC,
|
||
Carruthers A,
|
||
Natowicz MR</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2006 Feb;21(2):241-5.
|
||
doi: 10.1002/mds.20660.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16149086" target="_blank">16149086</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12963755">Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blau N,
|
||
Bonafé L,
|
||
Krägeloh-Mann I,
|
||
Thöny B,
|
||
Kierat L,
|
||
Häusler M,
|
||
Ramaekers V</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2003 Sep 9;61(5):642-7.
|
||
doi: 10.1212/01.wnl.0000082726.08631.e7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12963755" target="_blank">12963755</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20microcephaly%2C%20movement%20abnormalities%2C%20and%20seizures%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 (4)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38996765">Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mohammadi NA,
|
||
Ahring PK,
|
||
Yu Liao VW,
|
||
Chua HC,
|
||
Ortiz de la Rosa S,
|
||
Johannesen KM,
|
||
Michaeli-Yossef Y,
|
||
Vincent-Devulder A,
|
||
Meridda C,
|
||
Bruel AL,
|
||
Rossi A,
|
||
Patel C,
|
||
Klepper J,
|
||
Bonanni P,
|
||
Minghetti S,
|
||
Trivisano M,
|
||
Specchio N,
|
||
Amor D,
|
||
Auvin S,
|
||
Baer S,
|
||
Meyer P,
|
||
Milh M,
|
||
Salpietro V,
|
||
Maroofian R,
|
||
Lemke JR,
|
||
Weckhuysen S,
|
||
Christophersen P,
|
||
Rubboli G,
|
||
Chebib M,
|
||
Jensen AA,
|
||
Absalom NL,
|
||
Møller RS</span><br />
|
||
<span class="medgenPMjournal">EBioMedicine</span>
|
||
2024 Aug;106:105236.
|
||
Epub 2024 Jul 11
|
||
doi: 10.1016/j.ebiom.2024.105236.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38996765" target="_blank">38996765</a><a href="/pmc/articles/PMC11296288" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36731496">Genetic and clinical variations of developmental epileptic encephalopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaya Özçora GD,
|
||
Söbü E,
|
||
Gümüş U</span><br />
|
||
<span class="medgenPMjournal">Neurol Res</span>
|
||
2023 Mar;45(3):226-233.
|
||
Epub 2023 Feb 2
|
||
doi: 10.1080/01616412.2023.2170917.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36731496" target="_blank">36731496</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33919646">Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spagnoli C,
|
||
Fusco C,
|
||
Percesepe A,
|
||
Leuzzi V,
|
||
Pisani F</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2021 Apr 18;22(8)
|
||
doi: 10.3390/ijms22084202.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33919646" target="_blank">33919646</a><a href="/pmc/articles/PMC8072943" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26480021">Angelman syndrome: A review highlighting musculoskeletal and anatomical aberrations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sachdeva R,
|
||
Donkers SJ,
|
||
Kim SY</span><br />
|
||
<span class="medgenPMjournal">Clin Anat</span>
|
||
2016 Jul;29(5):561-7.
|
||
Epub 2015 Nov 17
|
||
doi: 10.1002/ca.22659.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26480021" target="_blank">26480021</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17718830">GLUT1 deficiency syndrome--2007 update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klepper J,
|
||
Leiendecker B</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2007 Sep;49(9):707-16.
|
||
doi: 10.1111/j.1469-8749.2007.00707.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17718830" target="_blank">17718830</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20microcephaly%2C%20movement%20abnormalities%2C%20and%20seizures%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 (14)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38996765">Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mohammadi NA,
|
||
Ahring PK,
|
||
Yu Liao VW,
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Chua HC,
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Ortiz de la Rosa S,
|
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Johannesen KM,
|
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Michaeli-Yossef Y,
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Vincent-Devulder A,
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Meridda C,
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Bruel AL,
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Rossi A,
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Patel C,
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Klepper J,
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Bonanni P,
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Minghetti S,
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Trivisano M,
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||
Specchio N,
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Amor D,
|
||
Auvin S,
|
||
Baer S,
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Meyer P,
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Milh M,
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Salpietro V,
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Maroofian R,
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Lemke JR,
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Weckhuysen S,
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Christophersen P,
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Rubboli G,
|
||
Chebib M,
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Jensen AA,
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Absalom NL,
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Møller RS</span><br />
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<span class="medgenPMjournal">EBioMedicine</span>
|
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2024 Aug;106:105236.
|
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Epub 2024 Jul 11
|
||
doi: 10.1016/j.ebiom.2024.105236.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38996765" target="_blank">38996765</a><a href="/pmc/articles/PMC11296288" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37951597">Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaiyrzhanov R,
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Rad A,
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Lin SJ,
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Bertoli-Avella A,
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Kallemeijn WW,
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Godwin A,
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Zaki MS,
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Huang K,
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Lau T,
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Petree C,
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Efthymiou S,
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Karimiani EG,
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Hempel M,
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Normand EA,
|
||
Rudnik-Schöneborn S,
|
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Schatz UA,
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Baggelaar MP,
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Ilyas M,
|
||
Sultan T,
|
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Alvi JR,
|
||
Ganieva M,
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Fowler B,
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||
Aanicai R,
|
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Tayfun GA,
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||
Al Saman A,
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Alswaid A,
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Amiri N,
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||
Asilova N,
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Shotelersuk V,
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Yeetong P,
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Azam M,
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Babaei M,
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Monajemi GB,
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Mohammadi P,
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Samie S,
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Banu SH,
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Pinto Basto J,
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Kortüm F,
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Bauer M,
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Bauer P,
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Beetz C,
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Garshasbi M,
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Issa AH,
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Eyaid W,
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Ahmed H,
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Hashemi N,
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Hassanpour K,
|
||
Herman I,
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Ibrohimov S,
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||
Abdul-Majeed BA,
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Imdad M,
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||
Isrofilov M,
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Kaiyal Q,
|
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Khan S,
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Kirmse B,
|
||
Koster J,
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Lourenço CM,
|
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Mitani T,
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Moldovan O,
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Murphy D,
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||
Najafi M,
|
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Pehlivan D,
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Rocha ME,
|
||
Salpietro V,
|
||
Schmidts M,
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||
Shalata A,
|
||
Mahroum M,
|
||
Talbeya JK,
|
||
Taylor RW,
|
||
Vazquez D,
|
||
Vetro A,
|
||
Waterham HR,
|
||
Zaman M,
|
||
Schrader TA,
|
||
Chung WK,
|
||
Guerrini R,
|
||
Lupski JR,
|
||
Gleeson J,
|
||
Suri M,
|
||
Jamshidi Y,
|
||
Bhatia KP,
|
||
Vona B,
|
||
Schrader M,
|
||
Severino M,
|
||
Guille M,
|
||
Tate EW,
|
||
Varshney GK,
|
||
Houlden H,
|
||
Maroofian R</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2024 Apr 4;147(4):1436-1456.
|
||
doi: 10.1093/brain/awad380.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37951597" target="_blank">37951597</a><a href="/pmc/articles/PMC10994533" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37197784">Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Justel M,
|
||
Jou C,
|
||
Sariego-Jamardo A,
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||
Juliá-Palacios NA,
|
||
Ortez C,
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||
Poch ML,
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||
Hedrera-Fernandez A,
|
||
Gomez-Martin H,
|
||
Codina A,
|
||
Dominguez-Carral J,
|
||
Muxart J,
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||
Hernández-Laín A,
|
||
Vila-Bedmar S,
|
||
Zulaica M,
|
||
Cancho-Candela R,
|
||
Castro MDC,
|
||
de la Osa-Langreo A,
|
||
Peña-Valenceja A,
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||
Marcos-Vadillo E,
|
||
Prieto-Matos P,
|
||
Pascual-Pascual SI,
|
||
López de Munain A,
|
||
Camacho A,
|
||
Estevez-Arias B,
|
||
Musokhranova U,
|
||
Olivella M,
|
||
Oyarzábal A,
|
||
Jimenez-Mallebrera C,
|
||
Domínguez-González C,
|
||
Nascimento A,
|
||
García-Cazorla À,
|
||
Natera-de Benito D</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2023 Oct;60(10):965-973.
|
||
Epub 2023 May 16
|
||
doi: 10.1136/jmg-2022-109132.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37197784" target="_blank">37197784</a><a href="/pmc/articles/PMC10579479" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33001581">Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Andelman-Gur MM,
|
||
Leventer RJ,
|
||
Hujirat M,
|
||
Ganos C,
|
||
Yosovich K,
|
||
Carmi N,
|
||
Lev D,
|
||
Nissenkorn A,
|
||
Dobyns WB,
|
||
Bhatia K,
|
||
Lerman-Sagie T,
|
||
Blumkin L</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2020 Oct;182(10):2207-2213.
|
||
Epub 2020 Aug 17
|
||
doi: 10.1002/ajmg.a.61795.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33001581" target="_blank">33001581</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30982612">Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gorman KM,
|
||
Meyer E,
|
||
Grozeva D,
|
||
Spinelli E,
|
||
McTague A,
|
||
Sanchis-Juan A,
|
||
Carss KJ,
|
||
Bryant E,
|
||
Reich A,
|
||
Schneider AL,
|
||
Pressler RM,
|
||
Simpson MA,
|
||
Debelle GD,
|
||
Wassmer E,
|
||
Morton J,
|
||
Sieciechowicz D,
|
||
Jan-Kamsteeg E,
|
||
Paciorkowski AR,
|
||
King MD,
|
||
Cross JH,
|
||
Poduri A,
|
||
Mefford HC,
|
||
Scheffer IE,
|
||
Haack TB,
|
||
McCullagh G;
|
||
Deciphering Developmental Disorders Study;
|
||
UK10K Consortium;
|
||
NIHR BioResource,
|
||
Millichap JJ,
|
||
Carvill GL,
|
||
Clayton-Smith J,
|
||
Maher ER,
|
||
Raymond FL,
|
||
Kurian MA</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2019 May 2;104(5):948-956.
|
||
Epub 2019 Apr 11
|
||
doi: 10.1016/j.ajhg.2019.03.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30982612" target="_blank">30982612</a><a href="/pmc/articles/PMC6507039" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20microcephaly%2C%20movement%20abnormalities%2C%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 (13)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/33919646">Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spagnoli C,
|
||
Fusco C,
|
||
Percesepe A,
|
||
Leuzzi V,
|
||
Pisani F</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2021 Apr 18;22(8)
|
||
doi: 10.3390/ijms22084202.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33919646" target="_blank">33919646</a><a href="/pmc/articles/PMC8072943" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20microcephaly%2C%20movement%20abnormalities%2C%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 (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
||
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||
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|
||
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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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<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
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