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<meta name="keywords" content="C4225227, disease or syndrome, opa10, optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures, optic atrophy 10 with or without ataxia, intellectual disability, and seizures, optic atrophy 10 with or without ataxia, mental retardation, and seizures, rtn4ip1, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=905727
|
||
ConceptID=C4225227
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Optic atrophy 10 with or without ataxia, intellectual disability, and seizures<span class="h1sub">(OPA10)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>905727</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:">C4225227</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>OPA10; OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES; OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES</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="RTN4IP1 - ID: 84816 - NCBI Gene" href="/gene/84816" class="medgenPMinfo">RTN4IP1</a> (6q21)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0020737" target="_blank">MONDO:0020737</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/616732" target="_blank">616732</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>
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||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10044"><div><strong>Intellectual disability, mild</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10044</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.">C0026106</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10044">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20mild%22%5BClinical%20Features%5D%20OR%2010044%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43220"><div><strong>Photophobia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43220</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.">C0085636</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43220">Feature record</a> | <a href="/medgen?term=%22Photophobia%22%5BClinical%20Features%5D%20OR%2043220%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1385980"><div><strong>Myoclonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385980</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4317123</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1385980">Feature record</a> | <a href="/medgen?term=%22Myoclonic%20seizure%22%5BClinical%20Features%5D%20OR%201385980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45166"><div><strong>Nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45166</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.">C0028738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45166">Feature record</a> | <a href="/medgen?term=%22Nystagmus%22%5BClinical%20Features%5D%20OR%2045166%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57750"><div><strong>Central scotoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57750</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.">C0152191</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An area of depressed vision located at the point of fixation and that interferes with central vision.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57750">Feature record</a> | <a href="/medgen?term=%22Central%20scotoma%22%5BClinical%20Features%5D%20OR%2057750%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_508920"><div><strong>Blind-spot enlargement</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>508920</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.">C0152192</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/508920">Feature record</a> | <a href="/medgen?term=%22Blind-spot%20enlargement%22%5BClinical%20Features%5D%20OR%20508920%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_115964"><div><strong>Color vision defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115964</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.">C0234629</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An anomaly in the ability to discriminate between or recognize colors.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115964">Feature record</a> | <a href="/medgen?term=%22Color%20vision%20defect%22%5BClinical%20Features%5D%20OR%20115964%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65889"><div><strong>Reduced visual acuity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65889</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.">C0234632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished clarity of vision.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65889">Feature record</a> | <a href="/medgen?term=%22Reduced%20visual%20acuity%22%5BClinical%20Features%5D%20OR%2065889%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_138007"><div><strong>Congenital blue dot cataract</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138007</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.">C0344523</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerulean cataract, first described by Vogt (1922), is an autosomal dominant, early-onset, bilateral cataract with complete penetrance. Newborns appear asymptomatic until the age of 18 to 24 months, at which time they can be clinically diagnosed by slit-lamp examination through the appearance of tiny blue or white opacities that form first in the superficial layers of the fetal lens nucleus. The opacities progress throughout the adult lens nucleus and the cortex, forming concentric layers, with central lesions oriented radially. Histologically the lesions appear to be tapered cavities between lens fibers. Progression of the cataract is slow, such that patients may have lens extractions between the ages of 16 and 35 years (Armitage et al., 1995). The preferred title/symbol of this entry was formerly 'Cataract, Congenital, Cerulean Type, 1; CCA1.'</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/138007">Feature record</a> | <a href="/medgen?term=%22Congenital%20blue%20dot%20cataract%22%5BClinical%20Features%5D%20OR%20138007%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_108218"><div><strong>Optic disc pallor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108218</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.">C0554970</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108218">Feature record</a> | <a href="/medgen?term=%22Optic%20disc%20pallor%22%5BClinical%20Features%5D%20OR%20108218%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 eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_508920" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blind-spot enlargement</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57750" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Central scotoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115964" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Color vision defect</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_138007" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital blue dot cataract</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108218" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic disc pallor</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65889" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced visual acuity</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_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10044" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, mild</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1385980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43220" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Photophobia</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/36414808">Developments in the Treatment of Leber Hereditary Optic Neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen BS,
|
||
Yu-Wai-Man P,
|
||
Newman NJ</span><br />
|
||
<span class="medgenPMjournal">Curr Neurol Neurosci Rep</span>
|
||
2022 Dec;22(12):881-892.
|
||
Epub 2022 Nov 21
|
||
doi: 10.1007/s11910-022-01246-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36414808" target="_blank">36414808</a><a href="/pmc/articles/PMC9750907" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34203304">Genotype-Phenotype Correlations in Angelman Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang L,
|
||
Shu X,
|
||
Mao S,
|
||
Wang Y,
|
||
Du X,
|
||
Zou C</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2021 Jun 28;12(7)
|
||
doi: 10.3390/genes12070987.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34203304" target="_blank">34203304</a><a href="/pmc/articles/PMC8304328" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31904126">Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wolff M,
|
||
Brunklaus A,
|
||
Zuberi SM</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2019 Dec;60 Suppl 3:S59-S67.
|
||
doi: 10.1111/epi.14935.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31904126" target="_blank">31904126</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(optic%20atrophy%2010%20with%20or%20without%20ataxia%2C%20intellectual%20disability%2C%20and%20seizures)%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 (51)</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/36350566">Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Newman NJ,
|
||
Yu-Wai-Man P,
|
||
Subramanian PS,
|
||
Moster ML,
|
||
Wang AG,
|
||
Donahue SP,
|
||
Leroy BP,
|
||
Carelli V,
|
||
Biousse V,
|
||
Vignal-Clermont C,
|
||
Sergott RC,
|
||
Sadun AA,
|
||
Rebolleda Fernández G,
|
||
Chwalisz BK,
|
||
Banik R,
|
||
Bazin F,
|
||
Roux M,
|
||
Cox ED,
|
||
Taiel M,
|
||
Sahel JA;
|
||
LHON REFLECT Study Group</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Apr 19;146(4):1328-1341.
|
||
doi: 10.1093/brain/awac421.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36350566" target="_blank">36350566</a><a href="/pmc/articles/PMC10115230" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36331550">Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morsy H,
|
||
Benkirane M,
|
||
Cali E,
|
||
Rocca C,
|
||
Zhelcheska K,
|
||
Cipriani V,
|
||
Galanaki E,
|
||
Maroofian R,
|
||
Efthymiou S,
|
||
Murphy D,
|
||
O'Driscoll M,
|
||
Suri M,
|
||
Banka S,
|
||
Clayton-Smith J,
|
||
Wright T,
|
||
Redman M,
|
||
Bassetti JA,
|
||
Nizon M,
|
||
Cogne B,
|
||
Jamra RA,
|
||
Bartolomaeus T,
|
||
Heruth M,
|
||
Krey I,
|
||
Gburek-Augustat J,
|
||
Wieczorek D,
|
||
Gattermann F,
|
||
Mcentagart M,
|
||
Goldenberg A,
|
||
Guyant-Marechal L,
|
||
Garcia-Moreno H,
|
||
Giunti P,
|
||
Chabrol B,
|
||
Bacrot S,
|
||
Buissonnière R,
|
||
Magry V,
|
||
Gowda VK,
|
||
Srinivasan VM,
|
||
Melegh B,
|
||
Szabó A,
|
||
Sümegi K,
|
||
Cossée M,
|
||
Ziff M,
|
||
Butterfield R,
|
||
Hunt D,
|
||
Bird-Lieberman G,
|
||
Hanna M,
|
||
Koenig M,
|
||
Stankewich M,
|
||
Vandrovcova J,
|
||
Houlden H;
|
||
Genomics England Research Consortium</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2023 Jan;25(1):76-89.
|
||
Epub 2022 Nov 4
|
||
doi: 10.1016/j.gim.2022.09.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36331550" target="_blank">36331550</a><a href="/pmc/articles/PMC10620943" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33136666">Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rajabian F,
|
||
Manitto MP,
|
||
Palombo F,
|
||
Caporali L,
|
||
Grazioli A,
|
||
Starace V,
|
||
Arrigo A,
|
||
Cascavilla ML,
|
||
La Morgia C,
|
||
Barboni P,
|
||
Bandello F,
|
||
Carelli V,
|
||
Battaglia Parodi M</span><br />
|
||
<span class="medgenPMjournal">J Neuroophthalmol</span>
|
||
2021 Sep 1;41(3):e290-e292.
|
||
doi: 10.1097/WNO.0000000000001124.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33136666" target="_blank">33136666</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31924505">The phenotypic spectrum of SCN2A-related epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reynolds C,
|
||
King MD,
|
||
Gorman KM</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2020 Jan;24:117-122.
|
||
Epub 2019 Dec 12
|
||
doi: 10.1016/j.ejpn.2019.12.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31924505" target="_blank">31924505</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30541864">SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vlaskamp DRM,
|
||
Shaw BJ,
|
||
Burgess R,
|
||
Mei D,
|
||
Montomoli M,
|
||
Xie H,
|
||
Myers CT,
|
||
Bennett MF,
|
||
XiangWei W,
|
||
Williams D,
|
||
Maas SM,
|
||
Brooks AS,
|
||
Mancini GMS,
|
||
van de Laar IMBH,
|
||
van Hagen JM,
|
||
Ware TL,
|
||
Webster RI,
|
||
Malone S,
|
||
Berkovic SF,
|
||
Kalnins RM,
|
||
Sicca F,
|
||
Korenke GC,
|
||
van Ravenswaaij-Arts CMA,
|
||
Hildebrand MS,
|
||
Mefford HC,
|
||
Jiang Y,
|
||
Guerrini R,
|
||
Scheffer IE</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2019 Jan 8;92(2):e96-e107.
|
||
Epub 2018 Dec 12
|
||
doi: 10.1212/WNL.0000000000006729.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30541864" target="_blank">30541864</a><a href="/pmc/articles/PMC6340340" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Optic%20atrophy%2010%20with%20or%20without%20ataxia%2C%20intellectual%20disability%2C%20and%20seizures%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 (683)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36414808">Developments in the Treatment of Leber Hereditary Optic Neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen BS,
|
||
Yu-Wai-Man P,
|
||
Newman NJ</span><br />
|
||
<span class="medgenPMjournal">Curr Neurol Neurosci Rep</span>
|
||
2022 Dec;22(12):881-892.
|
||
Epub 2022 Nov 21
|
||
doi: 10.1007/s11910-022-01246-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36414808" target="_blank">36414808</a><a href="/pmc/articles/PMC9750907" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34708738">Asymmetric diabetic retinopathy.</a></div>
|
||
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Optic%20atrophy%2010%20with%20or%20without%20ataxia%2C%20intellectual%20disability%2C%20and%20seizures%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 (393)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/36192182">The Phenotypic Continuum of ATP1A3-Related Disorders.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35722745">Clinical and genetic characterization of CACNA1A-related disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lipman AR,
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Fan X,
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Shen Y,
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Chung WK</span><br />
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<span class="medgenPMjournal">Clin Genet</span>
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2022 Oct;102(4):288-295.
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Epub 2022 Jun 26
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doi: 10.1111/cge.14180.
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<span class="bold">PMID: </span><a href="/pubmed/35722745" target="_blank">35722745</a><a href="/pmc/articles/PMC9458680" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34708738">Asymmetric diabetic retinopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Azad R,
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Sinha S,
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Nishant P</span><br />
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2021 Nov;69(11):3026-3034.
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doi: 10.4103/ijo.IJO_1525_21.
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<span class="bold">PMID: </span><a href="/pubmed/34708738" target="_blank">34708738</a><a href="/pmc/articles/PMC8725155" 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/33880529">ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vetro A,
|
||
Nielsen HN,
|
||
Holm R,
|
||
Hevner RF,
|
||
Parrini E,
|
||
Powis Z,
|
||
Møller RS,
|
||
Bellan C,
|
||
Simonati A,
|
||
Lesca G,
|
||
Helbig KL,
|
||
Palmer EE,
|
||
Mei D,
|
||
Ballardini E,
|
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Van Haeringen A,
|
||
Syrbe S,
|
||
Leuzzi V,
|
||
Cioni G,
|
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Curry CJ,
|
||
Costain G,
|
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Santucci M,
|
||
Chong K,
|
||
Mancini GMS,
|
||
Clayton-Smith J,
|
||
Bigoni S,
|
||
Scheffer IE,
|
||
Dobyns WB,
|
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Vilsen B,
|
||
Guerrini R;
|
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ATP1A2/A3-collaborators</span><br />
|
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<span class="medgenPMjournal">Brain</span>
|
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2021 Jun 22;144(5):1435-1450.
|
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doi: 10.1093/brain/awab052.
|
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<span class="bold">PMID: </span><a href="/pubmed/33880529" target="_blank">33880529</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/31924505">The phenotypic spectrum of SCN2A-related epilepsy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Reynolds C,
|
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King MD,
|
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Gorman KM</span><br />
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<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
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2020 Jan;24:117-122.
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Epub 2019 Dec 12
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doi: 10.1016/j.ejpn.2019.12.016.
|
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<span class="bold">PMID: </span><a href="/pubmed/31924505" target="_blank">31924505</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Optic%20atrophy%2010%20with%20or%20without%20ataxia%2C%20intellectual%20disability%2C%20and%20seizures%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 (483)</a></div></div>
|
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</div>
|
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|
||
<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>
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<div class="portlet_content ln">
|
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<div class="nl"><a target="_blank" href="/pubmed/36809201">Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J</span><br />
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<span class="medgenPMjournal">J Clin Neuromuscul Dis</span>
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2023 Mar 1;24(3):140-146.
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<span class="bold">PMID: </span><a href="/pubmed/36809201" target="_blank">36809201</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/36692329">ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">De Feyter S,
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Beyens A,
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Callewaert B</span><br />
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<span class="medgenPMjournal">J Inherit Metab Dis</span>
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2023 Mar;46(2):163-173.
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Epub 2023 Feb 3
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<span class="bold">PMID: </span><a href="/pubmed/36692329" target="_blank">36692329</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32032457">Acupuncture for glaucoma.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Law SK,
|
||
Wang L,
|
||
Li T</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2020 Feb 7;2(2):CD006030.
|
||
doi: 10.1002/14651858.CD006030.pub4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32032457" target="_blank">32032457</a><a href="/pmc/articles/PMC7006956" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28920886">Retinal layer segmentation in multiple sclerosis: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Petzold A,
|
||
Balcer LJ,
|
||
Calabresi PA,
|
||
Costello F,
|
||
Frohman TC,
|
||
Frohman EM,
|
||
Martinez-Lapiscina EH,
|
||
Green AJ,
|
||
Kardon R,
|
||
Outteryck O,
|
||
Paul F,
|
||
Schippling S,
|
||
Vermersch P,
|
||
Villoslada P,
|
||
Balk LJ;
|
||
ERN-EYE IMSVISUAL</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2017 Oct;16(10):797-812.
|
||
Epub 2017 Sep 12
|
||
doi: 10.1016/S1474-4422(17)30278-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28920886" target="_blank">28920886</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25874378">The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martinelli D,
|
||
Diodato D,
|
||
Ponzi E,
|
||
Monné M,
|
||
Boenzi S,
|
||
Bertini E,
|
||
Fiermonte G,
|
||
Dionisi-Vici C</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2015 Mar 11;10:29.
|
||
doi: 10.1186/s13023-015-0242-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25874378" target="_blank">25874378</a><a href="/pmc/articles/PMC4358699" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Optic%20atrophy%2010%20with%20or%20without%20ataxia%2C%20intellectual%20disability%2C%20and%20seizures%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 (13)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
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<div id="messagearea_bottom">
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<div class=" bottom">
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|
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|
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
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|
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|
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<!-- 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><li><a href="/gtr/tests?term=C4225227%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (9)</a></li>
|
||
<li><a href="/gtr/tests?term=C4225227%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (17)</a></li>
|
||
<li><a href="/gtr/tests?term=C4225227%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=C4225227%5bDISCUI%5d" target="_blank">See all (17)</a></total></li>
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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=(optic%20atrophy%2010%20with%20or%20without%20ataxia%2C%20intellectual%20disability%2C%20and%20seizures)%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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