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<meta name="keywords" content="C4748137, disease or syndrome, lnpk, nedehcc, neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, 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="" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1648487
|
||
ConceptID=C4748137
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum<span class="h1sub">(NEDEHCC)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648487</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:">C4748137</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>NEDEHCC; NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM</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="LNPK - ID: 80856 - NCBI Gene" href="/gene/80856" class="medgenPMinfo">LNPK</a> (2q31.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0060761" target="_blank">MONDO:0060761</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/618090" target="_blank">618090</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_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_21635"><div><strong>Tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21635</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.">C0040822</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unintentional, oscillating to-and-fro muscle movement about a joint axis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21635">Feature record</a> | <a href="/medgen?term=%22Tremor%22%5BClinical%20Features%5D%20OR%2021635%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68583"><div><strong>Dysmetria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68583</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.">C0234162</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68583">Feature record</a> | <a href="/medgen?term=%22Dysmetria%22%5BClinical%20Features%5D%20OR%2068583%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82855"><div><strong>Tonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82855</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.">C0270844</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82855">Feature record</a> | <a href="/medgen?term=%22Tonic%20seizure%22%5BClinical%20Features%5D%20OR%2082855%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_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>
|
||
<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>
|
||
<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>
|
||
<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_141670"><div><strong>Bilateral tonic-clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141670</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.">C0494475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/141670">Feature record</a> | <a href="/medgen?term=%22Bilateral%20tonic-clonic%20seizure%22%5BClinical%20Features%5D%20OR%20141670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107860"><div><strong>Inability to walk</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107860</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0560046</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Incapability to ambulate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107860">Feature record</a> | <a href="/medgen?term=%22Inability%20to%20walk%22%5BClinical%20Features%5D%20OR%20107860%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107895"><div><strong>Gait disturbance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107895</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.">C0575081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The term gait disturbance can refer to any disruption of the ability to walk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107895">Feature record</a> | <a href="/medgen?term=%22Gait%20disturbance%22%5BClinical%20Features%5D%20OR%20107895%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_196624"><div><strong>Cerebellar atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196624</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0740279</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/196624">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20atrophy%22%5BClinical%20Features%5D%20OR%20196624%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_155642"><div><strong>Gait ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155642</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.">C0751837</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155642">Feature record</a> | <a href="/medgen?term=%22Gait%20ataxia%22%5BClinical%20Features%5D%20OR%20155642%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_182977"><div><strong>Vegetative state</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>182977</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.">C0917808</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The absence of wakefulness and consciousness, but in contrast to a coma, there is involuntary opening of the eyes and movements such as teeth grinding, yawning, or thrashing of the extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/182977">Feature record</a> | <a href="/medgen?term=%22Vegetative%20state%22%5BClinical%20Features%5D%20OR%20182977%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324613"><div><strong>Developmental regression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324613</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.">C1836830</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss of developmental skills, as manifested by loss of developmental milestones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324613">Feature record</a> | <a href="/medgen?term=%22Developmental%20regression%22%5BClinical%20Features%5D%20OR%20324613%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_333548"><div><strong>Cerebellar vermis hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333548</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.">C1840379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the vermis of cerebellum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333548">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20vermis%20hypoplasia%22%5BClinical%20Features%5D%20OR%20333548%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_892704"><div><strong>Generalized myoclonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892704</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.">C4021759</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, 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/892704">Feature record</a> | <a href="/medgen?term=%22Generalized%20myoclonic%20seizure%22%5BClinical%20Features%5D%20OR%20892704%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_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_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>
|
||
<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_8484"><div><strong>Drooling</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8484</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.">C0013132</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Habitual flow of saliva out of the mouth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8484">Feature record</a> | <a href="/medgen?term=%22Drooling%22%5BClinical%20Features%5D%20OR%208484%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_8484" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Drooling</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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></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_141670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral tonic-clonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_196624" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_333548" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar vermis 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_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental regression</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68583" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysmetria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_155642" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gait ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107895" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gait disturbance</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892704" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized myoclonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_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_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_82855" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tremor</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_182977" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vegetative state</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/37580113">Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Szakszon K,
|
||
Lourenco CM,
|
||
Callewaert BL,
|
||
Geneviève D,
|
||
Rouxel F,
|
||
Morin D,
|
||
Denommé-Pichon AS,
|
||
Vitobello A,
|
||
Patterson WG,
|
||
Louie R,
|
||
Pinto E Vairo F,
|
||
Klee E,
|
||
Kaiwar C,
|
||
Gavrilova RH,
|
||
Agre KE,
|
||
Jacquemont S,
|
||
Khadijé J,
|
||
Giltay J,
|
||
van Gassen K,
|
||
Merő G,
|
||
Gerkes E,
|
||
Van Bon BW,
|
||
Rinne T,
|
||
Pfundt R,
|
||
Brunner HG,
|
||
Caluseriu O,
|
||
Grasshoff U,
|
||
Kehrer M,
|
||
Haack TB,
|
||
Khelifa MM,
|
||
Bergmann AK,
|
||
Cueto-González AM,
|
||
Martorell AC,
|
||
Ramachandrappa S,
|
||
Sawyer LB,
|
||
Fasel P,
|
||
Braun D,
|
||
Isis A,
|
||
Superti-Furga A,
|
||
McNiven V,
|
||
Chitayat D,
|
||
Ahmed SA,
|
||
Brennenstuhl H,
|
||
Schwaibolf EM,
|
||
Battisti G,
|
||
Parmentier B,
|
||
Stevens SJC</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2024 Jan 19;61(2):132-141.
|
||
doi: 10.1136/jmg-2022-109030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37580113" target="_blank">37580113</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33497949">A newborn case of adenylosuccinate lyase deficiency with a novel heterozygous mutation diagnosed by whole exome sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cakmak Celik F,
|
||
Ozlu MM,
|
||
Ceylaner S</span><br />
|
||
<span class="medgenPMjournal">Clin Neurol Neurosurg</span>
|
||
2021 Mar;202:106506.
|
||
Epub 2021 Jan 19
|
||
doi: 10.1016/j.clineuro.2021.106506.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33497949" target="_blank">33497949</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(neurodevelopmental%20disorder%20with%20epilepsy%20and%20hypoplasia%20of%20the%20corpus%20callosum)%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 (2)</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/37078131">Children with corpus callosum anomalies: clinical characteristics and developmental outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jańczewska I,
|
||
Preis-Orlikowska J,
|
||
Domżalska-Popadiuk I,
|
||
Preis K,
|
||
Jańczewska A</span><br />
|
||
<span class="medgenPMjournal">Neurol Neurochir Pol</span>
|
||
2023;57(3):269-281.
|
||
Epub 2023 Apr 20
|
||
doi: 10.5603/PJNNS.a2023.0026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37078131" target="_blank">37078131</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30706430">A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zombor M,
|
||
Kalmár T,
|
||
Nagy N,
|
||
Berényi M,
|
||
Telcs B,
|
||
Maróti Z,
|
||
Brandau O,
|
||
Sztriha L</span><br />
|
||
<span class="medgenPMjournal">J Appl Genet</span>
|
||
2019 May;60(2):151-162.
|
||
Epub 2019 Feb 1
|
||
doi: 10.1007/s13353-019-00486-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30706430" target="_blank">30706430</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29112993">Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ebrahimi-Fakhari D</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
2018 Feb;49(1):18-25.
|
||
Epub 2017 Nov 7
|
||
doi: 10.1055/s-0037-1608652.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29112993" target="_blank">29112993</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27383641">Clinical manifestations in children and adolescents with corpus callosum abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Margari L,
|
||
Palumbi R,
|
||
Campa MG,
|
||
Operto FF,
|
||
Buttiglione M,
|
||
Craig F,
|
||
Matricardi S,
|
||
Verrotti A</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2016 Oct;263(10):1939-45.
|
||
Epub 2016 Jul 6
|
||
doi: 10.1007/s00415-016-8225-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27383641" target="_blank">27383641</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17958891">Mowat-Wilson syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garavelli L,
|
||
Mainardi PC</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2007 Oct 24;2:42.
|
||
doi: 10.1186/1750-1172-2-42.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17958891" target="_blank">17958891</a><a href="/pmc/articles/PMC2174447" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20epilepsy%20and%20hypoplasia%20of%20the%20corpus%20callosum%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 (46)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37580113">Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Szakszon K,
|
||
Lourenco CM,
|
||
Callewaert BL,
|
||
Geneviève D,
|
||
Rouxel F,
|
||
Morin D,
|
||
Denommé-Pichon AS,
|
||
Vitobello A,
|
||
Patterson WG,
|
||
Louie R,
|
||
Pinto E Vairo F,
|
||
Klee E,
|
||
Kaiwar C,
|
||
Gavrilova RH,
|
||
Agre KE,
|
||
Jacquemont S,
|
||
Khadijé J,
|
||
Giltay J,
|
||
van Gassen K,
|
||
Merő G,
|
||
Gerkes E,
|
||
Van Bon BW,
|
||
Rinne T,
|
||
Pfundt R,
|
||
Brunner HG,
|
||
Caluseriu O,
|
||
Grasshoff U,
|
||
Kehrer M,
|
||
Haack TB,
|
||
Khelifa MM,
|
||
Bergmann AK,
|
||
Cueto-González AM,
|
||
Martorell AC,
|
||
Ramachandrappa S,
|
||
Sawyer LB,
|
||
Fasel P,
|
||
Braun D,
|
||
Isis A,
|
||
Superti-Furga A,
|
||
McNiven V,
|
||
Chitayat D,
|
||
Ahmed SA,
|
||
Brennenstuhl H,
|
||
Schwaibolf EM,
|
||
Battisti G,
|
||
Parmentier B,
|
||
Stevens SJC</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2024 Jan 19;61(2):132-141.
|
||
doi: 10.1136/jmg-2022-109030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37580113" target="_blank">37580113</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37078131">Children with corpus callosum anomalies: clinical characteristics and developmental outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jańczewska I,
|
||
Preis-Orlikowska J,
|
||
Domżalska-Popadiuk I,
|
||
Preis K,
|
||
Jańczewska A</span><br />
|
||
<span class="medgenPMjournal">Neurol Neurochir Pol</span>
|
||
2023;57(3):269-281.
|
||
Epub 2023 Apr 20
|
||
doi: 10.5603/PJNNS.a2023.0026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37078131" target="_blank">37078131</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33497949">A newborn case of adenylosuccinate lyase deficiency with a novel heterozygous mutation diagnosed by whole exome sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cakmak Celik F,
|
||
Ozlu MM,
|
||
Ceylaner S</span><br />
|
||
<span class="medgenPMjournal">Clin Neurol Neurosurg</span>
|
||
2021 Mar;202:106506.
|
||
Epub 2021 Jan 19
|
||
doi: 10.1016/j.clineuro.2021.106506.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33497949" target="_blank">33497949</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27581855">Outcomes Associated With Isolated Agenesis of the Corpus Callosum: A Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Antonio F,
|
||
Pagani G,
|
||
Familiari A,
|
||
Khalil A,
|
||
Sagies TL,
|
||
Malinger G,
|
||
Leibovitz Z,
|
||
Garel C,
|
||
Moutard ML,
|
||
Pilu G,
|
||
Bhide A,
|
||
Acharya G,
|
||
Leombroni M,
|
||
Manzoli L,
|
||
Papageorghiou A,
|
||
Prefumo F</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2016 Sep;138(3)
|
||
doi: 10.1542/peds.2016-0445.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27581855" target="_blank">27581855</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17958891">Mowat-Wilson syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garavelli L,
|
||
Mainardi PC</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2007 Oct 24;2:42.
|
||
doi: 10.1186/1750-1172-2-42.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17958891" target="_blank">17958891</a><a href="/pmc/articles/PMC2174447" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20epilepsy%20and%20hypoplasia%20of%20the%20corpus%20callosum%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 (89)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34325981">The Neurological Manifestations of Phelan-McDermid Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frank Y</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2021 Sep;122:59-64.
|
||
Epub 2021 Jun 16
|
||
doi: 10.1016/j.pediatrneurol.2021.06.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34325981" target="_blank">34325981</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30706430">A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zombor M,
|
||
Kalmár T,
|
||
Nagy N,
|
||
Berényi M,
|
||
Telcs B,
|
||
Maróti Z,
|
||
Brandau O,
|
||
Sztriha L</span><br />
|
||
<span class="medgenPMjournal">J Appl Genet</span>
|
||
2019 May;60(2):151-162.
|
||
Epub 2019 Feb 1
|
||
doi: 10.1007/s13353-019-00486-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30706430" target="_blank">30706430</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28440867">The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Myers KA,
|
||
Mandelstam SA,
|
||
Ramantani G,
|
||
Rushing EJ,
|
||
de Vries BB,
|
||
Koolen DA,
|
||
Scheffer IE</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2017 Jun;58(6):1085-1094.
|
||
Epub 2017 Apr 25
|
||
doi: 10.1111/epi.13746.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28440867" target="_blank">28440867</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23322667">Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cordelli DM,
|
||
Garavelli L,
|
||
Savasta S,
|
||
Guerra A,
|
||
Pellicciari A,
|
||
Giordano L,
|
||
Bonetti S,
|
||
Cecconi I,
|
||
Wischmeijer A,
|
||
Seri M,
|
||
Rosato S,
|
||
Gelmini C,
|
||
Della Giustina E,
|
||
Ferrari AR,
|
||
Zanotta N,
|
||
Epifanio R,
|
||
Grioni D,
|
||
Malbora B,
|
||
Mammi I,
|
||
Mari F,
|
||
Buoni S,
|
||
Mostardini R,
|
||
Grosso S,
|
||
Pantaleoni C,
|
||
Doz M,
|
||
Poch-Olivé ML,
|
||
Rivieri F,
|
||
Sorge G,
|
||
Simonte G,
|
||
Licata F,
|
||
Tarani L,
|
||
Terazzi E,
|
||
Mazzanti L,
|
||
Cerruti Mainardi P,
|
||
Boni A,
|
||
Faravelli F,
|
||
Grasso M,
|
||
Bianchi P,
|
||
Zollino M,
|
||
Franzoni E</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2013 Feb;161A(2):273-84.
|
||
Epub 2013 Jan 15
|
||
doi: 10.1002/ajmg.a.35717.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23322667" target="_blank">23322667</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22804844">Long-term outcome in pyridoxine-dependent epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bok LA,
|
||
Halbertsma FJ,
|
||
Houterman S,
|
||
Wevers RA,
|
||
Vreeswijk C,
|
||
Jakobs C,
|
||
Struys E,
|
||
Van Der Hoeven JH,
|
||
Sival DA,
|
||
Willemsen MA</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2012 Sep;54(9):849-54.
|
||
Epub 2012 Jul 13
|
||
doi: 10.1111/j.1469-8749.2012.04347.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22804844" target="_blank">22804844</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20epilepsy%20and%20hypoplasia%20of%20the%20corpus%20callosum%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 (10)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37078131">Children with corpus callosum anomalies: clinical characteristics and developmental outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jańczewska I,
|
||
Preis-Orlikowska J,
|
||
Domżalska-Popadiuk I,
|
||
Preis K,
|
||
Jańczewska A</span><br />
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|
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2023;57(3):269-281.
|
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Epub 2023 Apr 20
|
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doi: 10.5603/PJNNS.a2023.0026.
|
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<span class="bold">PMID: </span><a href="/pubmed/37078131" target="_blank">37078131</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/34199024">Neurological Phenotype of Mowat-Wilson Syndrome.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Cordelli DM,
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Di Pisa V,
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Fetta A,
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<span class="bold">PMID: </span><a href="/pubmed/34199024" target="_blank">34199024</a><a href="/pmc/articles/PMC8305916" 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/33406966">Complications and Sequelae in Patients With Congenital Microcephaly Associated With Zika Virus Infection: Two-Year Follow-Up.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gouvea LA,
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Martins M,
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<div class="nl"><a target="_blank" href="/pubmed/27383641">Clinical manifestations in children and adolescents with corpus callosum abnormalities.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Margari L,
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<div class="nl"><a target="_blank" href="/pubmed/17958891">Mowat-Wilson syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Garavelli L,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20epilepsy%20and%20hypoplasia%20of%20the%20corpus%20callosum%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 (31)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
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Rad A,
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Lin SJ,
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Schatz UA,
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Mitani T,
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Moldovan O,
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Pehlivan D,
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Salpietro V,
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Schmidts M,
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Mahroum M,
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Talbeya JK,
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Taylor RW,
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Vazquez D,
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Vetro A,
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Waterham HR,
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Zaman M,
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Schrader TA,
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Chung WK,
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Guerrini R,
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Lupski JR,
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Gleeson J,
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Suri M,
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Jamshidi Y,
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Bhatia KP,
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Vona B,
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Schrader M,
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Severino M,
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Guille M,
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Tate EW,
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<span class="medgenPMjournal">Brain</span>
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2024 Apr 4;147(4):1436-1456.
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||
doi: 10.1093/brain/awad380.
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<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/37879892">Further characterisation of ARX-related disorders in females due to inherited or de novo variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gras M,
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Heide S,
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Keren B,
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Valence S,
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Garel C,
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Whalen S,
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Jansen AC,
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Keymolen K,
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Stouffs K,
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Jennesson M,
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Poirsier C,
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Lesca G,
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Depienne C,
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Nava C,
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Rastetter A,
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Curie A,
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Cuisset L,
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Des Portes V,
|
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Milh M,
|
||
Charles P,
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||
Mignot C,
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Héron D</span><br />
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<span class="medgenPMjournal">J Med Genet</span>
|
||
2024 Jan 19;61(2):103-108.
|
||
doi: 10.1136/jmg-2023-109203.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37879892" target="_blank">37879892</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37078131">Children with corpus callosum anomalies: clinical characteristics and developmental outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jańczewska I,
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||
Preis-Orlikowska J,
|
||
Domżalska-Popadiuk I,
|
||
Preis K,
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||
Jańczewska A</span><br />
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<span class="medgenPMjournal">Neurol Neurochir Pol</span>
|
||
2023;57(3):269-281.
|
||
Epub 2023 Apr 20
|
||
doi: 10.5603/PJNNS.a2023.0026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37078131" target="_blank">37078131</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27581855">Outcomes Associated With Isolated Agenesis of the Corpus Callosum: A Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Antonio F,
|
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Pagani G,
|
||
Familiari A,
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Khalil A,
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Sagies TL,
|
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Malinger G,
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Leibovitz Z,
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Garel C,
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Moutard ML,
|
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Pilu G,
|
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Bhide A,
|
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Acharya G,
|
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Leombroni M,
|
||
Manzoli L,
|
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Papageorghiou A,
|
||
Prefumo F</span><br />
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||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2016 Sep;138(3)
|
||
doi: 10.1542/peds.2016-0445.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27581855" target="_blank">27581855</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17958891">Mowat-Wilson syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garavelli L,
|
||
Mainardi PC</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2007 Oct 24;2:42.
|
||
doi: 10.1186/1750-1172-2-42.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17958891" target="_blank">17958891</a><a href="/pmc/articles/PMC2174447" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20epilepsy%20and%20hypoplasia%20of%20the%20corpus%20callosum%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 (38)</a></div></div>
|
||
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|
||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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