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<meta name="keywords" content="C3280543, intellectual developmental disorder, autosomal recessive 24, intellectual disability, autosomal recessive 24, mental or behavioral dysfunction, mental retardation, autosomal recessive 24, mrt24, 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=482173
|
||
ConceptID=C3280543
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Intellectual disability, autosomal recessive 24<span class="h1sub">(MRT24)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482173</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:">C3280543</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>MRT24</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013707" target="_blank">MONDO:0013707</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/614345" target="_blank">614345</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_99124"><div><strong>Growth delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99124</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.">C0456070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A deficiency or slowing down of growth pre- and postnatally.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99124">Feature record</a> | <a href="/medgen?term=%22Growth%20delay%22%5BClinical%20Features%5D%20OR%2099124%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_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_381392"><div><strong>Motor delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381392</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.">C1854301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of Developmental delay characterized by a delay in acquiring motor skills.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381392">Feature record</a> | <a href="/medgen?term=%22Motor%20delay%22%5BClinical%20Features%5D%20OR%20381392%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div><div class="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 the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</a></span></li></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_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_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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_381392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor delay</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_99124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Growth delay</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/15300855">Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shah GN,
|
||
Bonapace G,
|
||
Hu PY,
|
||
Strisciuglio P,
|
||
Sly WS</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2004 Sep;24(3):272.
|
||
doi: 10.1002/humu.9266.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15300855" target="_blank">15300855</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9008227">The comet assay as a repair test for prenatal diagnosis of Xeroderma pigmentosum and trichothiodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alapetite C,
|
||
Benoit A,
|
||
Moustacchi E,
|
||
Sarasin A</span><br />
|
||
<span class="medgenPMjournal">J Invest Dermatol</span>
|
||
1997 Feb;108(2):154-9.
|
||
doi: 10.1111/1523-1747.ep12332692.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9008227" target="_blank">9008227</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3896611">Seven hereditary syndromes with pigmentary retinopathy. A review and differential diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cantani A,
|
||
Bellioni P,
|
||
Bamonte G,
|
||
Salvinelli F,
|
||
Bamonte MT</span><br />
|
||
<span class="medgenPMjournal">Clin Pediatr (Phila)</span>
|
||
1985 Oct;24(10):578-83.
|
||
doi: 10.1177/000992288502401006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3896611" target="_blank">3896611</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(intellectual%20disability%2C%20autosomal%20recessive%2024)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (3)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39001623">Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Novelli M,
|
||
Tolve M,
|
||
Quiroz V,
|
||
Carducci C,
|
||
Bove R,
|
||
Ricciardi G,
|
||
Yang K,
|
||
Manti F,
|
||
Pisani F,
|
||
Ebrahimi-Fakhari D,
|
||
Galosi S,
|
||
Leuzzi V</span><br />
|
||
<span class="medgenPMjournal">Mov Disord Clin Pract</span>
|
||
2024 Sep;11(9):1072-1084.
|
||
Epub 2024 Jul 12
|
||
doi: 10.1002/mdc3.14157.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39001623" target="_blank">39001623</a><a href="/pmc/articles/PMC11452796" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35140360">Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sakakibara N,
|
||
Nozu K,
|
||
Yamamura T,
|
||
Horinouchi T,
|
||
Nagano C,
|
||
Ye MJ,
|
||
Ishiko S,
|
||
Aoto Y,
|
||
Rossanti R,
|
||
Hamada R,
|
||
Okamoto N,
|
||
Shima Y,
|
||
Nakanishi K,
|
||
Matsuo M,
|
||
Iijima K,
|
||
Morisada N</span><br />
|
||
<span class="medgenPMjournal">J Hum Genet</span>
|
||
2022 Jul;67(7):427-440.
|
||
Epub 2022 Feb 9
|
||
doi: 10.1038/s10038-022-01020-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35140360" target="_blank">35140360</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31741144">Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mutlu-Albayrak H,
|
||
Kırat E,
|
||
Gürbüz G</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2020 Jan;21(1):59-66.
|
||
Epub 2019 Nov 19
|
||
doi: 10.1007/s10048-019-00597-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31741144" target="_blank">31741144</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3585943">Angelman (happy puppet) syndrome in a girl and her brother.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fisher JA,
|
||
Burn J,
|
||
Alexander FW,
|
||
Gardner-Medwin D</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1987 May;24(5):294-8.
|
||
doi: 10.1136/jmg.24.5.294.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3585943" target="_blank">3585943</a><a href="/pmc/articles/PMC1050054" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1022851">Familial macroglossia-omphalocele syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chemke J</span><br />
|
||
<span class="medgenPMjournal">J Genet Hum</span>
|
||
1976 Dec;24(4):271-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1022851" target="_blank">1022851</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20recessive%2024%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 (24)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36315648">The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saffari A,
|
||
Kellner M,
|
||
Jordan C,
|
||
Rosengarten H,
|
||
Mo A,
|
||
Zhang B,
|
||
Strelko O,
|
||
Neuser S,
|
||
Davis MY,
|
||
Yoshikura N,
|
||
Futamura N,
|
||
Takeuchi T,
|
||
Nabatame S,
|
||
Ishiura H,
|
||
Tsuji S,
|
||
Aldeen HS,
|
||
Cali E,
|
||
Rocca C,
|
||
Houlden H,
|
||
Efthymiou S,
|
||
Assmann B,
|
||
Yoon G,
|
||
Trombetta BA,
|
||
Kivisäkk P,
|
||
Eichler F,
|
||
Nan H,
|
||
Takiyama Y,
|
||
Tessa A,
|
||
Santorelli FM,
|
||
Sahin M,
|
||
Blackstone C,
|
||
Yang E,
|
||
Schüle R,
|
||
Ebrahimi-Fakhari D</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 May 2;146(5):2003-2015.
|
||
doi: 10.1093/brain/awac391.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36315648" target="_blank">36315648</a><a href="/pmc/articles/PMC10411936" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35854334">Genetic etiology and clinical challenges of phenylketonuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elhawary NA,
|
||
AlJahdali IA,
|
||
Abumansour IS,
|
||
Elhawary EN,
|
||
Gaboon N,
|
||
Dandini M,
|
||
Madkhali A,
|
||
Alosaimi W,
|
||
Alzahrani A,
|
||
Aljohani F,
|
||
Melibary EM,
|
||
Kensara OA</span><br />
|
||
<span class="medgenPMjournal">Hum Genomics</span>
|
||
2022 Jul 19;16(1):22.
|
||
doi: 10.1186/s40246-022-00398-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35854334" target="_blank">35854334</a><a href="/pmc/articles/PMC9295449" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35042660">TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Radenkovic S,
|
||
Martinelli D,
|
||
Zhang Y,
|
||
Preston GJ,
|
||
Maiorana A,
|
||
Terracciano A,
|
||
Dentici ML,
|
||
Pisaneschi E,
|
||
Novelli A,
|
||
Ranatunga W,
|
||
Ligezka AN,
|
||
Ghesquière B,
|
||
Deyle DR,
|
||
Kozicz T,
|
||
Pinto E Vairo F,
|
||
Witters P,
|
||
Morava E</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2022 Apr;24(4):894-904.
|
||
Epub 2022 Jan 15
|
||
doi: 10.1016/j.gim.2021.12.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35042660" target="_blank">35042660</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34967075">A novel variant of C12orf4 linked to autosomal recessive intellectual disability type 66 with phenotype expansion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rashvand Z,
|
||
Kahrizi K,
|
||
Najmabadi H,
|
||
Najafipour R,
|
||
Omrani MD</span><br />
|
||
<span class="medgenPMjournal">J Gene Med</span>
|
||
2022 Apr;24(4):e3406.
|
||
Epub 2022 Jan 31
|
||
doi: 10.1002/jgm.3406.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34967075" target="_blank">34967075</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23640632">Cerebral calcification, osteopetrosis and renal tubular acidosis: is it carbonic anhydrase-II deficiency?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sh Ali AA,
|
||
Al-Mashta SA</span><br />
|
||
<span class="medgenPMjournal">Saudi J Kidney Dis Transpl</span>
|
||
2013 May;24(3):561-5.
|
||
doi: 10.4103/1319-2442.111067.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23640632" target="_blank">23640632</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20recessive%2024%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 (54)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37373384">Delayed Biotin Therapy in a Child with Atypical Profound Biotinidase Deficiency: Late Arrival of the Truth and a Lesson Worth Thinking.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu S,
|
||
Zhang Y,
|
||
Deng Z,
|
||
He H,
|
||
Zheng X,
|
||
Hong Q,
|
||
Luo X</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Jun 16;24(12)
|
||
doi: 10.3390/ijms241210239.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37373384" target="_blank">37373384</a><a href="/pmc/articles/PMC10299609" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36315648">The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saffari A,
|
||
Kellner M,
|
||
Jordan C,
|
||
Rosengarten H,
|
||
Mo A,
|
||
Zhang B,
|
||
Strelko O,
|
||
Neuser S,
|
||
Davis MY,
|
||
Yoshikura N,
|
||
Futamura N,
|
||
Takeuchi T,
|
||
Nabatame S,
|
||
Ishiura H,
|
||
Tsuji S,
|
||
Aldeen HS,
|
||
Cali E,
|
||
Rocca C,
|
||
Houlden H,
|
||
Efthymiou S,
|
||
Assmann B,
|
||
Yoon G,
|
||
Trombetta BA,
|
||
Kivisäkk P,
|
||
Eichler F,
|
||
Nan H,
|
||
Takiyama Y,
|
||
Tessa A,
|
||
Santorelli FM,
|
||
Sahin M,
|
||
Blackstone C,
|
||
Yang E,
|
||
Schüle R,
|
||
Ebrahimi-Fakhari D</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 May 2;146(5):2003-2015.
|
||
doi: 10.1093/brain/awac391.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36315648" target="_blank">36315648</a><a href="/pmc/articles/PMC10411936" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35854334">Genetic etiology and clinical challenges of phenylketonuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elhawary NA,
|
||
AlJahdali IA,
|
||
Abumansour IS,
|
||
Elhawary EN,
|
||
Gaboon N,
|
||
Dandini M,
|
||
Madkhali A,
|
||
Alosaimi W,
|
||
Alzahrani A,
|
||
Aljohani F,
|
||
Melibary EM,
|
||
Kensara OA</span><br />
|
||
<span class="medgenPMjournal">Hum Genomics</span>
|
||
2022 Jul 19;16(1):22.
|
||
doi: 10.1186/s40246-022-00398-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35854334" target="_blank">35854334</a><a href="/pmc/articles/PMC9295449" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16343967">Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rinat C,
|
||
Zoref-Shani E,
|
||
Ben-Neriah Z,
|
||
Bromberg Y,
|
||
Becker-Cohen R,
|
||
Feinstein S,
|
||
Sperling O,
|
||
Frishberg Y</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2006 Mar;87(3):249-52.
|
||
Epub 2005 Dec 15
|
||
doi: 10.1016/j.ymgme.2005.09.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16343967" target="_blank">16343967</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20recessive%2024%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39001623">Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Novelli M,
|
||
Tolve M,
|
||
Quiroz V,
|
||
Carducci C,
|
||
Bove R,
|
||
Ricciardi G,
|
||
Yang K,
|
||
Manti F,
|
||
Pisani F,
|
||
Ebrahimi-Fakhari D,
|
||
Galosi S,
|
||
Leuzzi V</span><br />
|
||
<span class="medgenPMjournal">Mov Disord Clin Pract</span>
|
||
2024 Sep;11(9):1072-1084.
|
||
Epub 2024 Jul 12
|
||
doi: 10.1002/mdc3.14157.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39001623" target="_blank">39001623</a><a href="/pmc/articles/PMC11452796" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<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,
|
||
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<div class="nl"><a target="_blank" href="/pubmed/26173967">Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23640632">Cerebral calcification, osteopetrosis and renal tubular acidosis: is it carbonic anhydrase-II deficiency?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sh Ali AA,
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Al-Mashta SA</span><br />
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<span class="medgenPMjournal">Saudi J Kidney Dis Transpl</span>
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2013 May;24(3):561-5.
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doi: 10.4103/1319-2442.111067.
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<span class="bold">PMID: </span><a href="/pubmed/23640632" target="_blank">23640632</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/1022851">Familial macroglossia-omphalocele syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chemke J</span><br />
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<span class="medgenPMjournal">J Genet Hum</span>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20recessive%2024%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 (15)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39001623">Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Novelli M,
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Tolve M,
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Quiroz V,
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Carducci C,
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Bove R,
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Ricciardi G,
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Yang K,
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Manti F,
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Pisani F,
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Ebrahimi-Fakhari D,
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Galosi S,
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Leuzzi V</span><br />
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<span class="medgenPMjournal">Mov Disord Clin Pract</span>
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2024 Sep;11(9):1072-1084.
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Epub 2024 Jul 12
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doi: 10.1002/mdc3.14157.
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<span class="bold">PMID: </span><a href="/pubmed/39001623" target="_blank">39001623</a><a href="/pmc/articles/PMC11452796" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36757831">The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Saffari A,
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Lau T,
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Tajsharghi H,
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Karimiani EG,
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Kariminejad A,
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Efthymiou S,
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Zifarelli G,
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Sultan T,
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Ibrahim S,
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Li C,
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Martínez-González MJ,
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Levandoski KM,
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Bedoukian E,
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Madan-Khetarpal S,
|
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Idleburg MJ,
|
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Menezes MJ,
|
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Siddharth A,
|
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Platzer K,
|
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Oppermann H,
|
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Smitka M,
|
||
Collins F,
|
||
Lek M,
|
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Shahrooei M,
|
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Ghavideldarestani M,
|
||
Herman I,
|
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Rendu J,
|
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Faure J,
|
||
Baker J,
|
||
Bhambhani V,
|
||
Calderwood L,
|
||
Akhondian J,
|
||
Imannezhad S,
|
||
Mirzadeh HS,
|
||
Hashemi N,
|
||
Doosti M,
|
||
Safi M,
|
||
Ahangari N,
|
||
Torbati PN,
|
||
Abedini S,
|
||
Salpietro V,
|
||
Gulec EY,
|
||
Eshaghian S,
|
||
Ghazavi M,
|
||
Pascher MT,
|
||
Vogel M,
|
||
Abicht A,
|
||
Moutton S,
|
||
Bruel AL,
|
||
Rieubland C,
|
||
Gallati S,
|
||
Strom TM,
|
||
Lochmüller H,
|
||
Mohammadi MH,
|
||
Alvi JR,
|
||
Zackai EH,
|
||
Keena BA,
|
||
Skraban CM,
|
||
Berger SI,
|
||
Andrew EH,
|
||
Rahimian E,
|
||
Morrow MM,
|
||
Wentzensen IM,
|
||
Millan F,
|
||
Henderson LB,
|
||
Dafsari HS,
|
||
Jungbluth H,
|
||
Gomez-Ospina N,
|
||
McRae A,
|
||
Peter M,
|
||
Veltra D,
|
||
Marinakis NM,
|
||
Sofocleous C,
|
||
Ashrafzadeh F,
|
||
Pehlivan D,
|
||
Lemke JR,
|
||
Melki J,
|
||
Benezit A,
|
||
Bauer P,
|
||
Weis D,
|
||
Lupski JR,
|
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Senderek J,
|
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Christodoulou J,
|
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Chung WK,
|
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Goodchild R,
|
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Offiah AC,
|
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Moreno-De-Luca A,
|
||
Suri M,
|
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Ebrahimi-Fakhari D,
|
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Houlden H,
|
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Maroofian R</span><br />
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<span class="medgenPMjournal">Brain</span>
|
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2023 Aug 1;146(8):3273-3288.
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doi: 10.1093/brain/awad039.
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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/36315648">The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Saffari A,
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Kellner M,
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Rosengarten H,
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Mo A,
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Assmann B,
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Yoon G,
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Kivisäkk P,
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Eichler F,
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Nan H,
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Takiyama Y,
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Tessa A,
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Santorelli FM,
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Sahin M,
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Blackstone C,
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Yang E,
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doi: 10.1093/brain/awac391.
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<span class="bold">PMID: </span><a href="/pubmed/36315648" target="_blank">36315648</a><a href="/pmc/articles/PMC10411936" 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/24032289">Neuhauser syndrome: a rare association of megalocornea and mental retardation. Review of the literature and further phenotype delineation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gutiérrez-Amavizca BE,
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Juárez-Vázquez CI,
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Orozco-Castellanos R,
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Arnaud L,
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Macías-Gómez NM,
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Barros-Nuñez P</span><br />
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<span class="medgenPMjournal">Genet Couns</span>
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2013;24(2):185-91.
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<span class="bold">PMID: </span><a href="/pubmed/24032289" target="_blank">24032289</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23640632">Cerebral calcification, osteopetrosis and renal tubular acidosis: is it carbonic anhydrase-II deficiency?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sh Ali AA,
|
||
Al-Mashta SA</span><br />
|
||
<span class="medgenPMjournal">Saudi J Kidney Dis Transpl</span>
|
||
2013 May;24(3):561-5.
|
||
doi: 10.4103/1319-2442.111067.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23640632" target="_blank">23640632</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20recessive%2024%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 (23)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/39001623">Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Novelli M,
|
||
Tolve M,
|
||
Quiroz V,
|
||
Carducci C,
|
||
Bove R,
|
||
Ricciardi G,
|
||
Yang K,
|
||
Manti F,
|
||
Pisani F,
|
||
Ebrahimi-Fakhari D,
|
||
Galosi S,
|
||
Leuzzi V</span><br />
|
||
<span class="medgenPMjournal">Mov Disord Clin Pract</span>
|
||
2024 Sep;11(9):1072-1084.
|
||
Epub 2024 Jul 12
|
||
doi: 10.1002/mdc3.14157.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39001623" target="_blank">39001623</a><a href="/pmc/articles/PMC11452796" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32533820">Clinical, Immunologic and Molecular Spectrum of Patients with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kiaee F,
|
||
Zaki-Dizaji M,
|
||
Hafezi N,
|
||
Almasi-Hashiani A,
|
||
Hamedifar H,
|
||
Sabzevari A,
|
||
Shirkani A,
|
||
Zian Z,
|
||
Jadidi-Niaragh F,
|
||
Aghamahdi F,
|
||
Goudarzvand M,
|
||
Yazdani R,
|
||
Abolhassani H,
|
||
Aghamohammadi A,
|
||
Azizi G</span><br />
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<span class="medgenPMjournal">Endocr Metab Immune Disord Drug Targets</span>
|
||
2021;21(4):664-672.
|
||
doi: 10.2174/1871530320666200613204426.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32533820" target="_blank">32533820</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20recessive%2024%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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