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<meta name="keywords" content="C4748540, cdcbm9, cortical dysplasia, complex, with other brain malformations 9, ctnna2, disease or syndrome, 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="Complex cortical dysplasia with other brain malformations-9 is a severe autosomal recessive disorder characterized by profoundly impaired motor and cognitive development apparent from early infancy. Affected individuals develop intractable seizures and are unable to speak or ambulate. Brain imaging shows pachygyria as well as hypogenesis of the corpus callosum and other variable brain abnormalities. The phenotype results from impaired cortical neuronal migration (summary by Schaffer et al., 2018). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1648399
|
||
ConceptID=C4748540
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Cortical dysplasia, complex, with other brain malformations 9<span class="h1sub">(CDCBM9)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648399</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:">C4748540</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>CDCBM9; CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9</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="CTNNA2 - ID: 1496 - NCBI Gene" href="/gene/1496" class="medgenPMinfo">CTNNA2</a> (2p12)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0032578" target="_blank">MONDO:0032578</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/618174" target="_blank">618174</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">Complex cortical dysplasia with other brain malformations-9 is a severe autosomal recessive disorder characterized by profoundly impaired motor and cognitive development apparent from early infancy. Affected individuals develop intractable seizures and are unable to speak or ambulate. Brain imaging shows pachygyria as well as hypogenesis of the corpus callosum and other variable brain abnormalities. The phenotype results from impaired cortical neuronal migration (summary by Schaffer et al., 2018). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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||
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_332956"><div><strong>Bilateral talipes equinovarus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332956</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.">C1837835</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bilateral clubfoot deformity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332956">Feature record</a> | <a href="/medgen?term=%22Bilateral%20talipes%20equinovarus%22%5BClinical%20Features%5D%20OR%20332956%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_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9335"><div><strong>Hydrocephalus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9335</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020255</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9335">Feature record</a> | <a href="/medgen?term=%22Hydrocephalus%22%5BClinical%20Features%5D%20OR%209335%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_48638"><div><strong>Intellectual disability, severe</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48638</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.">C0036857</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/48638">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20severe%22%5BClinical%20Features%5D%20OR%2048638%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56235"><div><strong>EEG abnormality</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56235</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0151611</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56235">Feature record</a> | <a href="/medgen?term=%22EEG%20abnormality%22%5BClinical%20Features%5D%20OR%2056235%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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>
|
||
<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>
|
||
<div class="divPopper rprt" id="clin_120578"><div><strong>Cerebellar hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120578</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.">C0266470</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120578">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20hypoplasia%22%5BClinical%20Features%5D%20OR%20120578%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120579"><div><strong>Macrogyria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120579</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.">C0266483</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120579">Feature record</a> | <a href="/medgen?term=%22Macrogyria%22%5BClinical%20Features%5D%20OR%20120579%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78735"><div><strong>Atonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78735</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.">C0270846</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78735">Feature record</a> | <a href="/medgen?term=%22Atonic%20seizure%22%5BClinical%20Features%5D%20OR%2078735%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_138005"><div><strong>Hypoplasia of the corpus callosum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138005</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.">C0344482</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the corpus callosum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/138005">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20corpus%20callosum%22%5BClinical%20Features%5D%20OR%20138005%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98433"><div><strong>Spastic tetraplegia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98433</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.">C0426970</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paralysis affecting all four limbs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98433">Feature record</a> | <a href="/medgen?term=%22Spastic%20tetraplegia%22%5BClinical%20Features%5D%20OR%2098433%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_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_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>
|
||
<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>
|
||
<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>
|
||
<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>
|
||
<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_334226"><div><strong>Hypoplasia of the brainstem</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334226</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.">C1842688</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the brainstem.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334226">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20brainstem%22%5BClinical%20Features%5D%20OR%20334226%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340737"><div><strong>Absent speech</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340737</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1854882</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Complete lack of development of speech and language abilities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340737">Feature record</a> | <a href="/medgen?term=%22Absent%20speech%22%5BClinical%20Features%5D%20OR%20340737%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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_868509"><div><strong>Delayed early-childhood social milestone development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868509</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.">C4022906</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A failure to meet one or more age-related milestones of social behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868509">Feature record</a> | <a href="/medgen?term=%22Delayed%20early-childhood%20social%20milestone%20development%22%5BClinical%20Features%5D%20OR%20868509%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_869257"><div><strong>Delayed fine motor development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869257</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.">C4023681</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/869257">Feature record</a> | <a href="/medgen?term=%22Delayed%20fine%20motor%20development%22%5BClinical%20Features%5D%20OR%20869257%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1385980"><div><strong>Myoclonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385980</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.">C4317123</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1385980">Feature record</a> | <a href="/medgen?term=%22Myoclonic%20seizure%22%5BClinical%20Features%5D%20OR%201385980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1815057"><div><strong>Reduced cerebral white matter volume</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1815057</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.">C5706151</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally low volume of the white matter of the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1815057">Feature record</a> | <a href="/medgen?term=%22Reduced%20cerebral%20white%20matter%20volume%22%5BClinical%20Features%5D%20OR%201815057%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>
|
||
<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_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_608952"><div><strong>Secondary microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>608952</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.">C0431352</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/608952">Feature record</a> | <a href="/medgen?term=%22Secondary%20microcephaly%22%5BClinical%20Features%5D%20OR%20608952%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_745757"><div><strong>Macrocephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>745757</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.">C2243051</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/745757">Feature record</a> | <a href="/medgen?term=%22Macrocephaly%22%5BClinical%20Features%5D%20OR%20745757%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78574"><div><strong>Pulmonary hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78574</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.">C0265783</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78574">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20hypoplasia%22%5BClinical%20Features%5D%20OR%2078574%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18180"><div><strong>Optic atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18180</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.">C0029124</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18180">Feature record</a> | <a href="/medgen?term=%22Optic%20atrophy%22%5BClinical%20Features%5D%20OR%2018180%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332956" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral talipes equinovarus</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_18180" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic atrophy</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_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_745757" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrocephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_608952" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Secondary microcephaly</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_78735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atonic seizure</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_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120578" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar hypoplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868509" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed early-childhood social milestone development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_869257" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed fine motor development</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_56235" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EEG abnormality</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9335" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hydrocephalus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperreflexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334226" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the brainstem</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_138005" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the corpus callosum</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_48638" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, severe</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrogyria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1385980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1815057" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced cerebral white matter volume</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_98433" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic tetraplegia</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78574" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary hypoplasia</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="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/39501537">Cannabidiol Treatment for Adult Patients with Drug-Resistant Epilepsies: A Real-World Study in a Tertiary Center.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Calonge Q,
|
||
Besnard A,
|
||
Bailly L,
|
||
Damiano M,
|
||
Pichit P,
|
||
Dupont S,
|
||
Gourfinkel-An I,
|
||
Navarro V</span><br />
|
||
<span class="medgenPMjournal">Brain Behav</span>
|
||
2024 Nov;14(11):e70122.
|
||
doi: 10.1002/brb3.70122.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39501537" target="_blank">39501537</a><a href="/pmc/articles/PMC11538088" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17637444">Tuberous sclerosis complex: advances in diagnosis, genetics, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schwartz RA,
|
||
Fernández G,
|
||
Kotulska K,
|
||
Jóźwiak S</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2007 Aug;57(2):189-202.
|
||
doi: 10.1016/j.jaad.2007.05.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17637444" target="_blank">17637444</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9818843">Surgical treatment of epilepsy in tuberous sclerosis: strategies and results in 18 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guerreiro MM,
|
||
Andermann F,
|
||
Andermann E,
|
||
Palmini A,
|
||
Hwang P,
|
||
Hoffman HJ,
|
||
Otsubo H,
|
||
Bastos A,
|
||
Dubeau F,
|
||
Snipes GJ,
|
||
Olivier A,
|
||
Rasmussen T</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
1998 Nov;51(5):1263-9.
|
||
doi: 10.1212/wnl.51.5.1263.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9818843" target="_blank">9818843</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(cortical%20dysplasia%2C%20complex%2C%20with%20other%20brain%20malformations%209)%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 (3)</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/34078440">Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zöllner JP,
|
||
Grau J,
|
||
Rosenow F,
|
||
Sauter M,
|
||
Knuf M,
|
||
Kurlemann G,
|
||
Mayer T,
|
||
Hertzberg C,
|
||
Bertsche A,
|
||
Immisch I,
|
||
Klein KM,
|
||
Knake S,
|
||
Marquard K,
|
||
Meyer S,
|
||
Noda AH,
|
||
von Podewils F,
|
||
Schäfer H,
|
||
Thiels C,
|
||
Willems LM,
|
||
Zukunft B,
|
||
Schubert-Bast S,
|
||
Strzelczyk A</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2021 Jun 2;16(1):250.
|
||
doi: 10.1186/s13023-021-01838-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34078440" target="_blank">34078440</a><a href="/pmc/articles/PMC8170458" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33346789">Add-on Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex: A Placebo-Controlled Randomized Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thiele EA,
|
||
Bebin EM,
|
||
Bhathal H,
|
||
Jansen FE,
|
||
Kotulska K,
|
||
Lawson JA,
|
||
O'Callaghan FJ,
|
||
Wong M,
|
||
Sahebkar F,
|
||
Checketts D,
|
||
Knappertz V;
|
||
GWPCARE6 Study Group</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2021 Mar 1;78(3):285-292.
|
||
doi: 10.1001/jamaneurol.2020.4607.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33346789" target="_blank">33346789</a><a href="/pmc/articles/PMC7754080" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29171184">Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Steiner JE,
|
||
McCoy GN,
|
||
Hess CP,
|
||
Dobyns WB,
|
||
Metry DW,
|
||
Drolet BA,
|
||
Maheshwari M,
|
||
Siegel DH</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2018 Jan;176(1):48-55.
|
||
Epub 2017 Nov 24
|
||
doi: 10.1002/ajmg.a.38523.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29171184" target="_blank">29171184</a><a href="/pmc/articles/PMC5844264" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27409709">Rapamycin and rapalogs for tuberous sclerosis complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sasongko TH,
|
||
Ismail NF,
|
||
Zabidi-Hussin Z</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2016 Jul 13;7(7):CD011272.
|
||
doi: 10.1002/14651858.CD011272.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27409709" target="_blank">27409709</a><a href="/pmc/articles/PMC6458010" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15563012">Behavioral and cognitive aspects of tuberous sclerosis complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prather P,
|
||
de Vries PJ</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2004 Sep;19(9):666-74.
|
||
doi: 10.1177/08830738040190090601.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15563012" target="_blank">15563012</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cortical%20dysplasia%2C%20complex%2C%20with%20other%20brain%20malformations%209%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 (34)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34635572">Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klonowska K,
|
||
Thiele EA,
|
||
Grevelink JM,
|
||
Thorner AR,
|
||
Kwiatkowski DJ</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2022 Sep;59(9):920-923.
|
||
Epub 2021 Oct 11
|
||
doi: 10.1136/jmedgenet-2021-108160.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34635572" target="_blank">34635572</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/33346789">Add-on Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex: A Placebo-Controlled Randomized Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thiele EA,
|
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Bebin EM,
|
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Bhathal H,
|
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Jansen FE,
|
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Kotulska K,
|
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Lawson JA,
|
||
O'Callaghan FJ,
|
||
Wong M,
|
||
Sahebkar F,
|
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Checketts D,
|
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Knappertz V;
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GWPCARE6 Study Group</span><br />
|
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<span class="medgenPMjournal">JAMA Neurol</span>
|
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2021 Mar 1;78(3):285-292.
|
||
doi: 10.1001/jamaneurol.2020.4607.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33346789" target="_blank">33346789</a><a href="/pmc/articles/PMC7754080" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29171184">Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Steiner JE,
|
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McCoy GN,
|
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Hess CP,
|
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Dobyns WB,
|
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Metry DW,
|
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Drolet BA,
|
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Maheshwari M,
|
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Siegel DH</span><br />
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<span class="medgenPMjournal">Am J Med Genet A</span>
|
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2018 Jan;176(1):48-55.
|
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Epub 2017 Nov 24
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<span class="bold">PMID: </span><a href="/pubmed/29171184" target="_blank">29171184</a><a href="/pmc/articles/PMC5844264" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/26564073">Tuberous sclerosis complex.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Islam MP,
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<span class="medgenPMjournal">Handb Clin Neurol</span>
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<span class="bold">PMID: </span><a href="/pubmed/26564073" target="_blank">26564073</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/17637444">Tuberous sclerosis complex: advances in diagnosis, genetics, and management.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Schwartz RA,
|
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Fernández G,
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Kotulska K,
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Jóźwiak S</span><br />
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<span class="medgenPMjournal">J Am Acad Dermatol</span>
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2007 Aug;57(2):189-202.
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doi: 10.1016/j.jaad.2007.05.004.
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<span class="bold">PMID: </span><a href="/pubmed/17637444" target="_blank">17637444</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cortical%20dysplasia%2C%20complex%2C%20with%20other%20brain%20malformations%209%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>
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<div class="nl"><a target="_blank" href="/pubmed/35587487">Pilot study evaluating everolimus molecular mechanisms in tuberous sclerosis complex and focal cortical dysplasia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Leitner DF,
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Kanshin E,
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Askenazi M,
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Siu Y,
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Friedman D,
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Devore S,
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Jones D,
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Wisniewski T,
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Devinsky O</span><br />
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<span class="medgenPMjournal">PLoS One</span>
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2022;17(5):e0268597.
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Epub 2022 May 19
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<span class="bold">PMID: </span><a href="/pubmed/35587487" target="_blank">35587487</a><a href="/pmc/articles/PMC9119437" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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|
||
<div class="nl"><a target="_blank" href="/pubmed/34078440">Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zöllner JP,
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Grau J,
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Rosenow F,
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Sauter M,
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Knuf M,
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Kurlemann G,
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Mayer T,
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Hertzberg C,
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Bertsche A,
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Immisch I,
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Klein KM,
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Knake S,
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Marquard K,
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Meyer S,
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Noda AH,
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von Podewils F,
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Schäfer H,
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Thiels C,
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Willems LM,
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Zukunft B,
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Schubert-Bast S,
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Strzelczyk A</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2021 Jun 2;16(1):250.
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doi: 10.1186/s13023-021-01838-w.
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<span class="bold">PMID: </span><a href="/pubmed/34078440" target="_blank">34078440</a><a href="/pmc/articles/PMC8170458" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33346789">Add-on Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex: A Placebo-Controlled Randomized Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thiele EA,
|
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Bebin EM,
|
||
Bhathal H,
|
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Jansen FE,
|
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Kotulska K,
|
||
Lawson JA,
|
||
O'Callaghan FJ,
|
||
Wong M,
|
||
Sahebkar F,
|
||
Checketts D,
|
||
Knappertz V;
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||
GWPCARE6 Study Group</span><br />
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<span class="medgenPMjournal">JAMA Neurol</span>
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2021 Mar 1;78(3):285-292.
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doi: 10.1001/jamaneurol.2020.4607.
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<span class="bold">PMID: </span><a href="/pubmed/33346789" target="_blank">33346789</a><a href="/pmc/articles/PMC7754080" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27409709">Rapamycin and rapalogs for tuberous sclerosis complex.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sasongko TH,
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Ismail NF,
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Zabidi-Hussin Z</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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2016 Jul 13;7(7):CD011272.
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<span class="bold">PMID: </span><a href="/pubmed/27409709" target="_blank">27409709</a><a href="/pmc/articles/PMC6458010" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17637444">Tuberous sclerosis complex: advances in diagnosis, genetics, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schwartz RA,
|
||
Fernández G,
|
||
Kotulska K,
|
||
Jóźwiak S</span><br />
|
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<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
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2007 Aug;57(2):189-202.
|
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doi: 10.1016/j.jaad.2007.05.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17637444" target="_blank">17637444</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cortical%20dysplasia%2C%20complex%2C%20with%20other%20brain%20malformations%209%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 (12)</a></div><h3 class="subhead">Prognosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/38428171">Tuberous sclerosis complex in adulthood: focus on epilepsy prognosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Licchetta L,
|
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Bruschi G,
|
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Stipa C,
|
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Belotti LMB,
|
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Ferri L,
|
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Mostacci B,
|
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Vignatelli L,
|
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Minardi R,
|
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Di Vito L,
|
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Muccioli L,
|
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Boni A,
|
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Tinuper P,
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Bisulli F</span><br />
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<span class="medgenPMjournal">Epilepsy Behav</span>
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2024 Apr;153:109688.
|
||
Epub 2024 Feb 29
|
||
doi: 10.1016/j.yebeh.2024.109688.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38428171" target="_blank">38428171</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35247673">Surgery for tuberous sclerosis complex-related epilepsy: Risk factors for an unfavorable seizure outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">d'Orio P,
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Pelliccia V,
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Biondi D,
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Scarpa P,
|
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Gozzo F,
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Revay M,
|
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Cardinale F,
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Tassi L,
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Cossu M</span><br />
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<span class="medgenPMjournal">Seizure</span>
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Epub 2022 Feb 27
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<span class="bold">PMID: </span><a href="/pubmed/35247673" target="_blank">35247673</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34673401">Health-related quality of life in children and adolescents with tuberous sclerosis complex and their caregivers: A multicentre cohort study from Germany.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Willems LM,
|
||
Schubert-Bast S,
|
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Grau J,
|
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Hertzberg C,
|
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Kurlemann G,
|
||
Wiemer-Kruel A,
|
||
Bast T,
|
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Bertsche A,
|
||
Bettendorf U,
|
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Fiedler B,
|
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Hahn A,
|
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Hartmann H,
|
||
Hornemann F,
|
||
Immisch I,
|
||
Jacobs J,
|
||
Kieslich M,
|
||
Klein KM,
|
||
Klotz KA,
|
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Kluger G,
|
||
Knuf M,
|
||
Mayer T,
|
||
Marquard K,
|
||
Meyer S,
|
||
Muhle H,
|
||
Müller-Schlüter K,
|
||
Noda AH,
|
||
Ruf S,
|
||
Sauter M,
|
||
Schlump JU,
|
||
Syrbe S,
|
||
Thiels C,
|
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Trollmann R,
|
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Wilken B,
|
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Zöllner JP,
|
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Rosenow F,
|
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Strzelczyk A</span><br />
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<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
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2021 Nov;35:111-122.
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Epub 2021 Oct 7
|
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doi: 10.1016/j.ejpn.2021.10.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34673401" target="_blank">34673401</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33346789">Add-on Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex: A Placebo-Controlled Randomized Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thiele EA,
|
||
Bebin EM,
|
||
Bhathal H,
|
||
Jansen FE,
|
||
Kotulska K,
|
||
Lawson JA,
|
||
O'Callaghan FJ,
|
||
Wong M,
|
||
Sahebkar F,
|
||
Checketts D,
|
||
Knappertz V;
|
||
GWPCARE6 Study Group</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2021 Mar 1;78(3):285-292.
|
||
doi: 10.1001/jamaneurol.2020.4607.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33346789" target="_blank">33346789</a><a href="/pmc/articles/PMC7754080" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29687739">Vigabatrin for Epileptic Spasms and Tonic Seizures in Tuberous Sclerosis Complex.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">van der Poest Clement EA,
|
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Sahin M,
|
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Peters JM</span><br />
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<span class="medgenPMjournal">J Child Neurol</span>
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2018 Jul;33(8):519-524.
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Epub 2018 Apr 24
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doi: 10.1177/0883073818768309.
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<span class="bold">PMID: </span><a href="/pubmed/29687739" target="_blank">29687739</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cortical%20dysplasia%2C%20complex%2C%20with%20other%20brain%20malformations%209%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 (20)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38428171">Tuberous sclerosis complex in adulthood: focus on epilepsy prognosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Licchetta L,
|
||
Bruschi G,
|
||
Stipa C,
|
||
Belotti LMB,
|
||
Ferri L,
|
||
Mostacci B,
|
||
Vignatelli L,
|
||
Minardi R,
|
||
Di Vito L,
|
||
Muccioli L,
|
||
Boni A,
|
||
Tinuper P,
|
||
Bisulli F</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2024 Apr;153:109688.
|
||
Epub 2024 Feb 29
|
||
doi: 10.1016/j.yebeh.2024.109688.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38428171" target="_blank">38428171</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35670379">TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Musante L,
|
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Faletra F,
|
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Meier K,
|
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Tomoum H,
|
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Najarzadeh Torbati P,
|
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Blair E,
|
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North S,
|
||
Gärtner J,
|
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Diegmann S,
|
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Beiraghi Toosi M,
|
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Ashrafzadeh F,
|
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Ghayoor Karimiani E,
|
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Murphy D,
|
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Murru FM,
|
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Zanus C,
|
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Magnolato A,
|
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La Bianca M,
|
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Feresin A,
|
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Girotto G,
|
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Gasparini P,
|
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Costa P,
|
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Carrozzi M</span><br />
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<span class="medgenPMjournal">Am J Med Genet A</span>
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2022 Sep;188(9):2652-2665.
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Epub 2022 Jun 7
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doi: 10.1002/ajmg.a.62852.
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<span class="bold">PMID: </span><a href="/pubmed/35670379" target="_blank">35670379</a><a href="/pmc/articles/PMC9541101" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35247673">Surgery for tuberous sclerosis complex-related epilepsy: Risk factors for an unfavorable seizure outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">d'Orio P,
|
||
Pelliccia V,
|
||
Biondi D,
|
||
Scarpa P,
|
||
Gozzo F,
|
||
Revay M,
|
||
Cardinale F,
|
||
Tassi L,
|
||
Cossu M</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2022 Apr;97:8-14.
|
||
Epub 2022 Feb 27
|
||
doi: 10.1016/j.seizure.2022.02.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35247673" target="_blank">35247673</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34673401">Health-related quality of life in children and adolescents with tuberous sclerosis complex and their caregivers: A multicentre cohort study from Germany.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Willems LM,
|
||
Schubert-Bast S,
|
||
Grau J,
|
||
Hertzberg C,
|
||
Kurlemann G,
|
||
Wiemer-Kruel A,
|
||
Bast T,
|
||
Bertsche A,
|
||
Bettendorf U,
|
||
Fiedler B,
|
||
Hahn A,
|
||
Hartmann H,
|
||
Hornemann F,
|
||
Immisch I,
|
||
Jacobs J,
|
||
Kieslich M,
|
||
Klein KM,
|
||
Klotz KA,
|
||
Kluger G,
|
||
Knuf M,
|
||
Mayer T,
|
||
Marquard K,
|
||
Meyer S,
|
||
Muhle H,
|
||
Müller-Schlüter K,
|
||
Noda AH,
|
||
Ruf S,
|
||
Sauter M,
|
||
Schlump JU,
|
||
Syrbe S,
|
||
Thiels C,
|
||
Trollmann R,
|
||
Wilken B,
|
||
Zöllner JP,
|
||
Rosenow F,
|
||
Strzelczyk A</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2021 Nov;35:111-122.
|
||
Epub 2021 Oct 7
|
||
doi: 10.1016/j.ejpn.2021.10.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34673401" target="_blank">34673401</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29171184">Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Steiner JE,
|
||
McCoy GN,
|
||
Hess CP,
|
||
Dobyns WB,
|
||
Metry DW,
|
||
Drolet BA,
|
||
Maheshwari M,
|
||
Siegel DH</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2018 Jan;176(1):48-55.
|
||
Epub 2017 Nov 24
|
||
doi: 10.1002/ajmg.a.38523.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29171184" target="_blank">29171184</a><a href="/pmc/articles/PMC5844264" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cortical%20dysplasia%2C%20complex%2C%20with%20other%20brain%20malformations%209%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 (14)</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/36550402">NSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Romero VI,
|
||
Arias-Almeida B,
|
||
Aguiar SA</span><br />
|
||
<span class="medgenPMjournal">BMC Genomics</span>
|
||
2022 Dec 22;23(1):849.
|
||
doi: 10.1186/s12864-022-09071-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36550402" target="_blank">36550402</a><a href="/pmc/articles/PMC9783842" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27409709">Rapamycin and rapalogs for tuberous sclerosis complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sasongko TH,
|
||
Ismail NF,
|
||
Zabidi-Hussin Z</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2016 Jul 13;7(7):CD011272.
|
||
doi: 10.1002/14651858.CD011272.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27409709" target="_blank">27409709</a><a href="/pmc/articles/PMC6458010" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cortical%20dysplasia%2C%20complex%2C%20with%20other%20brain%20malformations%209%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 (2)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4748540%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
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