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<meta name="keywords" content="C4693831, disease or syndrome, mcph21, microcephaly 21, primary, autosomal recessive, ncapd2, 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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<!--
|
||
UID=1646916
|
||
ConceptID=C4693831
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Microcephaly 21, primary, autosomal recessive<span class="h1sub">(MCPH21)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646916</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:">C4693831</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>MCPH21; MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE</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="NCAPD2 - ID: 9918 - NCBI Gene" href="/gene/9918" class="medgenPMinfo">NCAPD2</a> (12p13.31)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0054804" target="_blank">MONDO:0054804</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617983" target="_blank">617983</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_65920"><div><strong>Small for gestational age</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65920</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.">C0235991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65920">Feature record</a> | <a href="/medgen?term=%22Small%20for%20gestational%20age%22%5BClinical%20Features%5D%20OR%2065920%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_7680"><div><strong>Intellectual disability, moderate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7680</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.">C0026351</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7680">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20moderate%22%5BClinical%20Features%5D%20OR%207680%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_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_383046"><div><strong>Primary microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383046</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.">C2677180</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender at birth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383046">Feature record</a> | <a href="/medgen?term=%22Primary%20microcephaly%22%5BClinical%20Features%5D%20OR%20383046%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_346640"><div><strong>Sloping forehead</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346640</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.">C1857679</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346640">Feature record</a> | <a href="/medgen?term=%22Sloping%20forehead%22%5BClinical%20Features%5D%20OR%20346640%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_346640" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sloping forehead</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_383046" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary 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_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_7680" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, moderate</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65920" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Small for gestational age</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/28805828">Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Braun DA,
|
||
Rao J,
|
||
Mollet G,
|
||
Schapiro D,
|
||
Daugeron MC,
|
||
Tan W,
|
||
Gribouval O,
|
||
Boyer O,
|
||
Revy P,
|
||
Jobst-Schwan T,
|
||
Schmidt JM,
|
||
Lawson JA,
|
||
Schanze D,
|
||
Ashraf S,
|
||
Ullmann JFP,
|
||
Hoogstraten CA,
|
||
Boddaert N,
|
||
Collinet B,
|
||
Martin G,
|
||
Liger D,
|
||
Lovric S,
|
||
Furlano M,
|
||
Guerrera IC,
|
||
Sanchez-Ferras O,
|
||
Hu JF,
|
||
Boschat AC,
|
||
Sanquer S,
|
||
Menten B,
|
||
Vergult S,
|
||
De Rocker N,
|
||
Airik M,
|
||
Hermle T,
|
||
Shril S,
|
||
Widmeier E,
|
||
Gee HY,
|
||
Choi WI,
|
||
Sadowski CE,
|
||
Pabst WL,
|
||
Warejko JK,
|
||
Daga A,
|
||
Basta T,
|
||
Matejas V,
|
||
Scharmann K,
|
||
Kienast SD,
|
||
Behnam B,
|
||
Beeson B,
|
||
Begtrup A,
|
||
Bruce M,
|
||
Ch'ng GS,
|
||
Lin SP,
|
||
Chang JH,
|
||
Chen CH,
|
||
Cho MT,
|
||
Gaffney PM,
|
||
Gipson PE,
|
||
Hsu CH,
|
||
Kari JA,
|
||
Ke YY,
|
||
Kiraly-Borri C,
|
||
Lai WM,
|
||
Lemyre E,
|
||
Littlejohn RO,
|
||
Masri A,
|
||
Moghtaderi M,
|
||
Nakamura K,
|
||
Ozaltin F,
|
||
Praet M,
|
||
Prasad C,
|
||
Prytula A,
|
||
Roeder ER,
|
||
Rump P,
|
||
Schnur RE,
|
||
Shiihara T,
|
||
Sinha MD,
|
||
Soliman NA,
|
||
Soulami K,
|
||
Sweetser DA,
|
||
Tsai WH,
|
||
Tsai JD,
|
||
Topaloglu R,
|
||
Vester U,
|
||
Viskochil DH,
|
||
Vatanavicharn N,
|
||
Waxler JL,
|
||
Wierenga KJ,
|
||
Wolf MTF,
|
||
Wong SN,
|
||
Leidel SA,
|
||
Truglio G,
|
||
Dedon PC,
|
||
Poduri A,
|
||
Mane S,
|
||
Lifton RP,
|
||
Bouchard M,
|
||
Kannu P,
|
||
Chitayat D,
|
||
Magen D,
|
||
Callewaert B,
|
||
van Tilbeurgh H,
|
||
Zenker M,
|
||
Antignac C,
|
||
Hildebrandt F</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2017 Oct;49(10):1529-1538.
|
||
Epub 2017 Aug 14
|
||
doi: 10.1038/ng.3933.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28805828" target="_blank">28805828</a><a href="/pmc/articles/PMC5819591" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(microcephaly%2021%2C%20primary%2C%20autosomal%20recessive)%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 (1)</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/35192225">Molybdenum cofactor deficiency: A natural history.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spiegel R,
|
||
Schwahn BC,
|
||
Squires L,
|
||
Confer N</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2022 May;45(3):456-469.
|
||
Epub 2022 Mar 3
|
||
doi: 10.1002/jimd.12488.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35192225" target="_blank">35192225</a><a href="/pmc/articles/PMC9313850" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23583796">The smallest of the small.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hall JG</span><br />
|
||
<span class="medgenPMjournal">Gene</span>
|
||
2013 Oct 1;528(1):55-7.
|
||
Epub 2013 Apr 10
|
||
doi: 10.1016/j.gene.2013.03.081.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23583796" target="_blank">23583796</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microcephaly%2021%2C%20primary%2C%20autosomal%20recessive%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 (2)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35192225">Molybdenum cofactor deficiency: A natural history.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spiegel R,
|
||
Schwahn BC,
|
||
Squires L,
|
||
Confer N</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2022 May;45(3):456-469.
|
||
Epub 2022 Mar 3
|
||
doi: 10.1002/jimd.12488.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35192225" target="_blank">35192225</a><a href="/pmc/articles/PMC9313850" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30214071">Genomic and phenotypic delineation of congenital microcephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shaheen R,
|
||
Maddirevula S,
|
||
Ewida N,
|
||
Alsahli S,
|
||
Abdel-Salam GMH,
|
||
Zaki MS,
|
||
Tala SA,
|
||
Alhashem A,
|
||
Softah A,
|
||
Al-Owain M,
|
||
Alazami AM,
|
||
Abadel B,
|
||
Patel N,
|
||
Al-Sheddi T,
|
||
Alomar R,
|
||
Alobeid E,
|
||
Ibrahim N,
|
||
Hashem M,
|
||
Abdulwahab F,
|
||
Hamad M,
|
||
Tabarki B,
|
||
Alwadei AH,
|
||
Alhazzani F,
|
||
Bashiri FA,
|
||
Kentab A,
|
||
Şahintürk S,
|
||
Sherr E,
|
||
Fregeau B,
|
||
Sogati S,
|
||
Alshahwan SAM,
|
||
Alkhalifi S,
|
||
Alhumaidi Z,
|
||
Temtamy S,
|
||
Aglan M,
|
||
Otaify G,
|
||
Girisha KM,
|
||
Tulbah M,
|
||
Seidahmed MZ,
|
||
Salih MA,
|
||
Abouelhoda M,
|
||
Momin AA,
|
||
Saffar MA,
|
||
Partlow JN,
|
||
Arold ST,
|
||
Faqeih E,
|
||
Walsh C,
|
||
Alkuraya FS</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2019 Mar;21(3):545-552.
|
||
Epub 2018 Sep 14
|
||
doi: 10.1038/s41436-018-0140-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30214071" target="_blank">30214071</a><a href="/pmc/articles/PMC6986385" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21857152">Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marchal JA,
|
||
Ghani M,
|
||
Schindler D,
|
||
Gavvovidis I,
|
||
Winkler T,
|
||
Esquitino V,
|
||
Sternberg N,
|
||
Busche A,
|
||
Krawitz P,
|
||
Hecht J,
|
||
Robinson P,
|
||
Mundlos S,
|
||
Graul-Neumann L,
|
||
Sperling K,
|
||
Trimborn M,
|
||
Neitzel H</span><br />
|
||
<span class="medgenPMjournal">Cell Cycle</span>
|
||
2011 Sep 1;10(17):2967-77.
|
||
doi: 10.4161/cc.10.17.16871.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21857152" target="_blank">21857152</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microcephaly%2021%2C%20primary%2C%20autosomal%20recessive%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39680195">Novel PNPLA8 variants associated with primary ovarian insufficiency, tremors, cerebellar ataxia and limb weakness: a case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen B,
|
||
Zhang C,
|
||
Yuan Y,
|
||
Wang Z,
|
||
Cui T,
|
||
Dong G,
|
||
Pan H,
|
||
Zhang Z,
|
||
Li W</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2024 Dec 16;272(1):78.
|
||
doi: 10.1007/s00415-024-12838-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39680195" target="_blank">39680195</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35192225">Molybdenum cofactor deficiency: A natural history.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spiegel R,
|
||
Schwahn BC,
|
||
Squires L,
|
||
Confer N</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2022 May;45(3):456-469.
|
||
Epub 2022 Mar 3
|
||
doi: 10.1002/jimd.12488.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35192225" target="_blank">35192225</a><a href="/pmc/articles/PMC9313850" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22983954">Kinetochore KMN network gene CASC5 mutated in primary microcephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Genin A,
|
||
Desir J,
|
||
Lambert N,
|
||
Biervliet M,
|
||
Van Der Aa N,
|
||
Pierquin G,
|
||
Killian A,
|
||
Tosi M,
|
||
Urbina M,
|
||
Lefort A,
|
||
Libert F,
|
||
Pirson I,
|
||
Abramowicz M</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2012 Dec 15;21(24):5306-17.
|
||
Epub 2012 Sep 13
|
||
doi: 10.1093/hmg/dds386.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22983954" target="_blank">22983954</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17849285">Novel protein-truncating mutations in the ASPM gene in families with autosomal recessive primary microcephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gul A,
|
||
Tariq M,
|
||
Khan MN,
|
||
Hassan MJ,
|
||
Ali G,
|
||
Ahmad W</span><br />
|
||
<span class="medgenPMjournal">J Neurogenet</span>
|
||
2007 Jul-Sep;21(3):153-63.
|
||
doi: 10.1080/01677060701508594.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17849285" target="_blank">17849285</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microcephaly%2021%2C%20primary%2C%20autosomal%20recessive%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39680195">Novel PNPLA8 variants associated with primary ovarian insufficiency, tremors, cerebellar ataxia and limb weakness: a case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen B,
|
||
Zhang C,
|
||
Yuan Y,
|
||
Wang Z,
|
||
Cui T,
|
||
Dong G,
|
||
Pan H,
|
||
Zhang Z,
|
||
Li W</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2024 Dec 16;272(1):78.
|
||
doi: 10.1007/s00415-024-12838-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39680195" target="_blank">39680195</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23472065">Primary microcephaly gene MCPH1 shows signatures of tumor suppressors and is regulated by miR-27a in oral squamous cell carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Venkatesh T,
|
||
Nagashri MN,
|
||
Swamy SS,
|
||
Mohiyuddin SM,
|
||
Gopinath KS,
|
||
Kumar A</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2013;8(3):e54643.
|
||
Epub 2013 Mar 5
|
||
doi: 10.1371/journal.pone.0054643.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23472065" target="_blank">23472065</a><a href="/pmc/articles/PMC3589425" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22983954">Kinetochore KMN network gene CASC5 mutated in primary microcephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Genin A,
|
||
Desir J,
|
||
Lambert N,
|
||
Biervliet M,
|
||
Van Der Aa N,
|
||
Pierquin G,
|
||
Killian A,
|
||
Tosi M,
|
||
Urbina M,
|
||
Lefort A,
|
||
Libert F,
|
||
Pirson I,
|
||
Abramowicz M</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2012 Dec 15;21(24):5306-17.
|
||
Epub 2012 Sep 13
|
||
doi: 10.1093/hmg/dds386.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22983954" target="_blank">22983954</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21857152">Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marchal JA,
|
||
Ghani M,
|
||
Schindler D,
|
||
Gavvovidis I,
|
||
Winkler T,
|
||
Esquitino V,
|
||
Sternberg N,
|
||
Busche A,
|
||
Krawitz P,
|
||
Hecht J,
|
||
Robinson P,
|
||
Mundlos S,
|
||
Graul-Neumann L,
|
||
Sperling K,
|
||
Trimborn M,
|
||
Neitzel H</span><br />
|
||
<span class="medgenPMjournal">Cell Cycle</span>
|
||
2011 Sep 1;10(17):2967-77.
|
||
doi: 10.4161/cc.10.17.16871.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21857152" target="_blank">21857152</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17849285">Novel protein-truncating mutations in the ASPM gene in families with autosomal recessive primary microcephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gul A,
|
||
Tariq M,
|
||
Khan MN,
|
||
Hassan MJ,
|
||
Ali G,
|
||
Ahmad W</span><br />
|
||
<span class="medgenPMjournal">J Neurogenet</span>
|
||
2007 Jul-Sep;21(3):153-63.
|
||
doi: 10.1080/01677060701508594.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17849285" target="_blank">17849285</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microcephaly%2021%2C%20primary%2C%20autosomal%20recessive%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 (5)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
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|
||
<div class=" bottom">
|
||
|
||
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|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
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||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4693831%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4693831%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=617983" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Microcephaly%2021,%20primary,%20autosomal%20recessive" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(microcephaly%2021%2C%20primary%2C%20autosomal%20recessive)%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=615638" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=9918[geneid]" target="_blank">View NCAPD2 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=617983" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<a href="/pubmed/clinical?term=Microcephaly%2021,%20primary,%20autosomal%20recessive" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1646916" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc8dbef4a390645e237e3d">Microcephaly 21, primary, autosomal recessive</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cc8dba84f3725e5919020e">C4225249[trait identifier] AND "Women's Health and Genetics/Labor... <span class="number">(1)</span></a>
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