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<meta name="keywords" content="C1970200, intellectual developmental disorder, autosomal recessive 12, intellectual disability, autosomal recessive 12, intellectual disability, autosomal recessive type 12, mental or behavioral dysfunction, mental retardation, autosomal recessive 12, mental retardation, autosomal recessive type 12, mrt12, st3gal3, 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=370850
|
||
ConceptID=C1970200
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Intellectual disability, autosomal recessive 12<span class="h1sub">(MRT12)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370850</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:">C1970200</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 12; MRT12</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="ST3GAL3 - ID: 6487 - NCBI Gene" href="/gene/6487" class="medgenPMinfo">ST3GAL3</a> (1p34.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012612" target="_blank">MONDO:0012612</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/611090" target="_blank">611090</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_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><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_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</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/35142283">Diagnosis and genotype-phenotype correlation in patients with PKD1/TSC2 contiguous gene deletion syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shang S,
|
||
Mei Y,
|
||
Wang T,
|
||
Zheng X,
|
||
Chen K,
|
||
Xiong S,
|
||
Dong Y,
|
||
Chang Y,
|
||
Wu X,
|
||
Kong X,
|
||
Tan M,
|
||
Wu L,
|
||
Zhang Y,
|
||
Xiao Y,
|
||
Xie Y,
|
||
Cai G,
|
||
Chen X,
|
||
Li Q</span><br />
|
||
<span class="medgenPMjournal">Clin Nephrol</span>
|
||
2022 Jun;97(6):328-338.
|
||
doi: 10.5414/CN110476.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35142283" target="_blank">35142283</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29025426">The complete European guidelines on phenylketonuria: diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Wegberg AMJ,
|
||
MacDonald A,
|
||
Ahring K,
|
||
Bélanger-Quintana A,
|
||
Blau N,
|
||
Bosch AM,
|
||
Burlina A,
|
||
Campistol J,
|
||
Feillet F,
|
||
Giżewska M,
|
||
Huijbregts SC,
|
||
Kearney S,
|
||
Leuzzi V,
|
||
Maillot F,
|
||
Muntau AC,
|
||
van Rijn M,
|
||
Trefz F,
|
||
Walter JH,
|
||
van Spronsen FJ</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2017 Oct 12;12(1):162.
|
||
doi: 10.1186/s13023-017-0685-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29025426" target="_blank">29025426</a><a href="/pmc/articles/PMC5639803" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25345101">Alpha-mannosidosis - a review of genetic, clinical findings and options of treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Borgwardt L,
|
||
Lund AM,
|
||
Dali CI</span><br />
|
||
<span class="medgenPMjournal">Pediatr Endocrinol Rev</span>
|
||
2014 Sep;12 Suppl 1:185-91.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25345101" target="_blank">25345101</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(intellectual%20disability%2C%20autosomal%20recessive%2012)%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 (8)</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/17718851">Genetics of autosomal recessive non-syndromic mental retardation: recent advances.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Basel-Vanagaite L</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2007 Sep;72(3):167-74.
|
||
doi: 10.1111/j.1399-0004.2007.00881.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17718851" target="_blank">17718851</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2118780">Etiology and recurrence risk in Rubinstein-Taybi syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hennekam RC,
|
||
Stevens CA,
|
||
Van de Kamp JJ</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet Suppl</span>
|
||
1990;6:56-64.
|
||
doi: 10.1002/ajmg.1320370610.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2118780" target="_blank">2118780</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7131177">Children of incest.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baird PA,
|
||
McGillivray B</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1982 Nov;101(5):854-7.
|
||
doi: 10.1016/s0022-3476(82)80347-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7131177" target="_blank">7131177</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/324277">Homocystinuria: pathogenetic mechanisms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grieco AJ</span><br />
|
||
<span class="medgenPMjournal">Am J Med Sci</span>
|
||
1977 Mar-Apr;273(2):120-32.
|
||
<span class="bold">PMID: </span><a href="/pubmed/324277" target="_blank">324277</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4375505">Genetic forms of pituitary dwarfism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rimoin DL</span><br />
|
||
<span class="medgenPMjournal">Birth Defects Orig Artic Ser</span>
|
||
1971 May;7(6):12-20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4375505" target="_blank">4375505</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20recessive%2012%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 (67)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37517035">Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maroofian R,
|
||
Kaiyrzhanov R,
|
||
Cali E,
|
||
Zamani M,
|
||
Zaki MS,
|
||
Ferla M,
|
||
Tortora D,
|
||
Sadeghian S,
|
||
Saadi SM,
|
||
Abdullah U,
|
||
Karimiani EG,
|
||
Efthymiou S,
|
||
Yeşil G,
|
||
Alavi S,
|
||
Al Shamsi AM,
|
||
Tajsharghi H,
|
||
Abdel-Hamid MS,
|
||
Saadi NW,
|
||
Al Mutairi F,
|
||
Alabdi L,
|
||
Beetz C,
|
||
Ali Z,
|
||
Toosi MB,
|
||
Rudnik-Schöneborn S,
|
||
Babaei M,
|
||
Isohanni P,
|
||
Muhammad J,
|
||
Khan S,
|
||
Al Shalan M,
|
||
Hickey SE,
|
||
Marom D,
|
||
Elhanan E,
|
||
Kurian MA,
|
||
Marafi D,
|
||
Saberi A,
|
||
Hamid M,
|
||
Spaull R,
|
||
Meng L,
|
||
Lalani S,
|
||
Maqbool S,
|
||
Rahman F,
|
||
Seeger J,
|
||
Palculict TB,
|
||
Lau T,
|
||
Murphy D,
|
||
Mencacci NE,
|
||
Steindl K,
|
||
Begemann A,
|
||
Rauch A,
|
||
Akbas S,
|
||
Aslanger AD,
|
||
Salpietro V,
|
||
Yousaf H,
|
||
Ben-Shachar S,
|
||
Ejeskär K,
|
||
Al Aqeel AI,
|
||
High FA,
|
||
Armstrong-Javors AE,
|
||
Zahraei SM,
|
||
Seifi T,
|
||
Zeighami J,
|
||
Shariati G,
|
||
Sedaghat A,
|
||
Asl SN,
|
||
Shahrooei M,
|
||
Zifarelli G,
|
||
Burglen L,
|
||
Ravelli C,
|
||
Zschocke J,
|
||
Schatz UA,
|
||
Ghavideldarestani M,
|
||
Kamel WA,
|
||
Van Esch H,
|
||
Hackenberg A,
|
||
Taylor JC,
|
||
Al-Gazali L,
|
||
Bauer P,
|
||
Gleeson JJ,
|
||
Alkuraya FS,
|
||
Lupski JR,
|
||
Galehdari H,
|
||
Azizimalamiri R,
|
||
Chung WK,
|
||
Baig SM,
|
||
Houlden H,
|
||
Severino M</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Dec 1;146(12):5031-5043.
|
||
doi: 10.1093/brain/awad257.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37517035" target="_blank">37517035</a><a href="/pmc/articles/PMC10690011" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36126956">Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Soengas-Gonda E,
|
||
Pérez de la Fuente R,
|
||
Arteche-López A,
|
||
Gómez-Cano MLÁ,
|
||
Quesada-Espinosa JF,
|
||
Palma Milla C,
|
||
Lezana Rosales JM,
|
||
Mayo de Andrés S,
|
||
Sánchez-Calvín MT,
|
||
Gómez-Rodríguez MJ,
|
||
Sierra Tomillo O,
|
||
Juarez Rufian A,
|
||
Ramos Gomez P,
|
||
Herrero-Forte C,
|
||
Fenollar-Cortés M,
|
||
Cotarelo-Pérez C,
|
||
García Ron A,
|
||
Pérez Rodríguez O,
|
||
Oancea-Ionescu R,
|
||
Moreno-García M</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
2023 Feb;54(1):31-36.
|
||
Epub 2022 Sep 20
|
||
doi: 10.1055/a-1947-8411.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36126956" target="_blank">36126956</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30345727">PRICKLE1-related early onset epileptic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mastrangelo M,
|
||
Tolve M,
|
||
Martinelli M,
|
||
Di Noia SP,
|
||
Parrini E,
|
||
Leuzzi V</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2018 Dec;176(12):2841-2845.
|
||
Epub 2018 Oct 22
|
||
doi: 10.1002/ajmg.a.40625.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30345727" target="_blank">30345727</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29025426">The complete European guidelines on phenylketonuria: diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Wegberg AMJ,
|
||
MacDonald A,
|
||
Ahring K,
|
||
Bélanger-Quintana A,
|
||
Blau N,
|
||
Bosch AM,
|
||
Burlina A,
|
||
Campistol J,
|
||
Feillet F,
|
||
Giżewska M,
|
||
Huijbregts SC,
|
||
Kearney S,
|
||
Leuzzi V,
|
||
Maillot F,
|
||
Muntau AC,
|
||
van Rijn M,
|
||
Trefz F,
|
||
Walter JH,
|
||
van Spronsen FJ</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2017 Oct 12;12(1):162.
|
||
doi: 10.1186/s13023-017-0685-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29025426" target="_blank">29025426</a><a href="/pmc/articles/PMC5639803" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15742102">Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coppola G,
|
||
Criscuolo C,
|
||
De Michele G,
|
||
Striano S,
|
||
Barbieri F,
|
||
Striano P,
|
||
Perretti A,
|
||
Santoro L,
|
||
Brescia Morra V,
|
||
Saccà F,
|
||
Scarano V,
|
||
D'Adamo AP,
|
||
Banfi S,
|
||
Gasparini P,
|
||
Santorelli FM,
|
||
Lehesjoki AE,
|
||
Filla A</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2005 Aug;252(8):897-900.
|
||
Epub 2005 Mar 8
|
||
doi: 10.1007/s00415-005-0766-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15742102" target="_blank">15742102</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20recessive%2012%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 (128)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37673300">3M syndrome: Evaluating the clinical and laboratory features and the response of the growth hormone treatment: Single center experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karacan Küçükali G,
|
||
Keskin M,
|
||
Aycan Z,
|
||
Savaş-Erdeve Ş,
|
||
Çetinkaya S</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2023 Oct;66(10):104828.
|
||
Epub 2023 Sep 4
|
||
doi: 10.1016/j.ejmg.2023.104828.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37673300" target="_blank">37673300</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32349000">Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yunisova G,
|
||
Tufekcioglu Z,
|
||
Dogu O,
|
||
Bilgic B,
|
||
Kaleagasi H,
|
||
Akca Kalem S,
|
||
Lohmann E,
|
||
Gurvit HI,
|
||
Emre M,
|
||
Hanagasi HA</span><br />
|
||
<span class="medgenPMjournal">Neurodegener Dis</span>
|
||
2019;19(5-6):218-224.
|
||
Epub 2020 Apr 29
|
||
doi: 10.1159/000506770.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32349000" target="_blank">32349000</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30231904">From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gagnon C,
|
||
Brais B,
|
||
Lessard I,
|
||
Lavoie C,
|
||
Côté I,
|
||
Mathieu J</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2018 Sep 19;13(1):165.
|
||
doi: 10.1186/s13023-018-0898-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30231904" target="_blank">30231904</a><a href="/pmc/articles/PMC6146508" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24482108">Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roques G,
|
||
Munzer M,
|
||
Barthez MA,
|
||
Beaufils S,
|
||
Beaupain B,
|
||
Flood T,
|
||
Keren B,
|
||
Bellanné-Chantelot C,
|
||
Donadieu J</span><br />
|
||
<span class="medgenPMjournal">Pediatr Blood Cancer</span>
|
||
2014 Jun;61(6):1041-8.
|
||
Epub 2014 Jan 30
|
||
doi: 10.1002/pbc.24964.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24482108" target="_blank">24482108</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/324277">Homocystinuria: pathogenetic mechanisms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grieco AJ</span><br />
|
||
<span class="medgenPMjournal">Am J Med Sci</span>
|
||
1977 Mar-Apr;273(2):120-32.
|
||
<span class="bold">PMID: </span><a href="/pubmed/324277" target="_blank">324277</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20recessive%2012%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (12)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36757831">The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saffari A,
|
||
Lau T,
|
||
Tajsharghi H,
|
||
Karimiani EG,
|
||
Kariminejad A,
|
||
Efthymiou S,
|
||
Zifarelli G,
|
||
Sultan T,
|
||
Toosi MB,
|
||
Sedighzadeh S,
|
||
Siu VM,
|
||
Ortigoza-Escobar JD,
|
||
AlShamsi AM,
|
||
Ibrahim S,
|
||
Al-Sannaa NA,
|
||
Al-Hertani W,
|
||
Sandra W,
|
||
Tarnopolsky M,
|
||
Alavi S,
|
||
Li C,
|
||
Day-Salvatore DL,
|
||
Martínez-González MJ,
|
||
Levandoski KM,
|
||
Bedoukian E,
|
||
Madan-Khetarpal S,
|
||
Idleburg MJ,
|
||
Menezes MJ,
|
||
Siddharth A,
|
||
Platzer K,
|
||
Oppermann H,
|
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Smitka M,
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<span class="bold">PMID: </span><a href="/pubmed/36757831" target="_blank">36757831</a><a href="/pmc/articles/PMC10393417" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/12554689">Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El Ghouzzi V,
|
||
Dagoneau N,
|
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Kinning E,
|
||
Thauvin-Robinet C,
|
||
Chemaitilly W,
|
||
Prost-Squarcioni C,
|
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Al-Gazali LI,
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Verloes A,
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Le Merrer M,
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Munnich A,
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Trembath RC,
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Cormier-Daire V</span><br />
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<span class="medgenPMjournal">Hum Mol Genet</span>
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2003 Feb 1;12(3):357-64.
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doi: 10.1093/hmg/ddg029.
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||
<span class="bold">PMID: </span><a href="/pubmed/12554689" target="_blank">12554689</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20recessive%2012%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 (83)</a></div></div>
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||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/36721231">Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Kohil A,
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Abdallah AM,
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Hussain K,
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Al-Shafai M</span><br />
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2023 Jan 31;18(1):22.
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doi: 10.1186/s13023-023-02614-8.
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<span class="bold">PMID: </span><a href="/pubmed/36721231" target="_blank">36721231</a><a href="/pmc/articles/PMC9887781" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20recessive%2012%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
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|
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|
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
||
<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_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1970200%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C1970200%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (15)</a></li>
|
||
<li><a href="/gtr/tests?term=C1970200%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1970200%5bDISCUI%5d" target="_blank">See all (15)</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=611090" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Intellectual%20disability,%20autosomal%20recessive%2012" 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=(intellectual%20disability%2C%20autosomal%20recessive%2012)%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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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc3f28a68b6b5afcdc37f4">Intellectual disability, autosomal recessive 12</a>
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