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<meta name="keywords" content="C0796195, basal ganglia disorder with intellectual disability, basal ganglia disorder with mental retardation, basal ganglion disorder with intellectual disability, basal ganglion disorder with mental retardation, bgmr, disease or syndrome, early onset parkinsonism and intellectual disability syndrome, early-onset parkinsonism-intellectual disability syndrome, laxova brown hogan syndrome, laxova opitz syndrome, laxova-opitz syndrome, parkinsonism, early onset with intellectual disability, parkinsonism, early onset with mental retardation, parkinsonism, early-onset, with intellectual disability, parkinsonism, early-onset, with mental retardation, rab39b, waisman syndrome, waisman syndrome, x-linked recessive, wsmn, wsn, x-linked recessive basal ganglia disorder with intellectual disability, x-linked recessive basal ganglia disorder with mental retardation, 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="Waisman syndrome (WSMN) is an X-linked neurologic disorder characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease (summary by Wilson et al., 2014)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=208674
|
||
ConceptID=C0796195
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Early-onset parkinsonism-intellectual disability syndrome<span class="h1sub">(WSMN)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208674</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:">C0796195</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>Basal ganglia disorder with mental retardation; BASAL GANGLION DISORDER WITH MENTAL RETARDATION; Laxova Brown Hogan syndrome; Parkinsonism, early onset with mental retardation; Waisman Syndrome; WSMN; X-linked recessive basal ganglia disorder with mental retardation</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Early onset parkinsonism and intellectual disability syndrome (716107009); Laxova Opitz syndrome (716107009); Waisman syndrome (716107009)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</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.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</a><span> (Orphanet)</span></div></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="RAB39B - ID: 116442 - NCBI Gene" href="/gene/116442" class="medgenPMinfo">RAB39B</a> (Xq28)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010709" target="_blank">MONDO:0010709</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/311510" target="_blank">311510</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2379">ORPHA2379</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_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Waisman syndrome (WSMN) is an X-linked neurologic disorder characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease (summary by Wilson et al., 2014). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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||
|
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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_8510"><div><strong>Dysarthria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8510</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.">C0013362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8510">Feature record</a> | <a href="/medgen?term=%22Dysarthria%22%5BClinical%20Features%5D%20OR%208510%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8514"><div><strong>Dyskinesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8514</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.">C0013384</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8514">Feature record</a> | <a href="/medgen?term=%22Dyskinesia%22%5BClinical%20Features%5D%20OR%208514%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_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43126"><div><strong>Lewy bodies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43126</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.">C0085200</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Cell Component</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intracytoplasmic, eosinophilic, round to elongated inclusions found in vacuoles of injured or fragmented neurons. The presence of Lewy bodies is the histological marker of the degenerative changes in LEWY BODY DISEASE and PARKINSON DISEASE but they may be seen in other neurological conditions. They are typically found in the substantia nigra and locus coeruleus but they are also seen in the basal forebrain, hypothalamic nuclei, and neocortex.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Lewy%20bodies%22%5BClinical%20Features%5D%20OR%2043126%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65141"><div><strong>Megalencephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65141</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.">C0221355</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65141">Feature record</a> | <a href="/medgen?term=%22Megalencephaly%22%5BClinical%20Features%5D%20OR%2065141%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68545"><div><strong>Shuffling gait</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68545</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.">C0231688</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68545">Feature record</a> | <a href="/medgen?term=%22Shuffling%20gait%22%5BClinical%20Features%5D%20OR%2068545%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_115925"><div><strong>Bradykinesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115925</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.">C0233565</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115925">Feature record</a> | <a href="/medgen?term=%22Bradykinesia%22%5BClinical%20Features%5D%20OR%20115925%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66697"><div><strong>Resting tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66697</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.">C0234379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66697">Feature record</a> | <a href="/medgen?term=%22Resting%20tremor%22%5BClinical%20Features%5D%20OR%2066697%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66079"><div><strong>Parkinsonian disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66079</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.">C0242422</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66079">Feature record</a> | <a href="/medgen?term=%22Parkinsonian%20disorder%22%5BClinical%20Features%5D%20OR%2066079%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99229"><div><strong>Dementia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99229</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.">C0497327</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99229">Feature record</a> | <a href="/medgen?term=%22Dementia%22%5BClinical%20Features%5D%20OR%2099229%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_334529"><div><strong>Postural instability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334529</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.">C1843921</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334529">Feature record</a> | <a href="/medgen?term=%22Postural%20instability%22%5BClinical%20Features%5D%20OR%20334529%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_375989"><div><strong>Parkinsonism with favorable response to dopaminergic medication</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375989</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.">C1846868</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375989">Feature record</a> | <a href="/medgen?term=%22Parkinsonism%20with%20favorable%20response%20to%20dopaminergic%20medication%22%5BClinical%20Features%5D%20OR%20375989%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_341172"><div><strong>Poor speech</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341172</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.">C1848207</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341172">Feature record</a> | <a href="/medgen?term=%22Poor%20speech%22%5BClinical%20Features%5D%20OR%20341172%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7752"><div><strong>Rigidity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7752</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026837</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7752">Feature record</a> | <a href="/medgen?term=%22Rigidity%22%5BClinical%20Features%5D%20OR%207752%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57469"><div><strong>Cogwheel rigidity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57469</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.">C0151564</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57469">Feature record</a> | <a href="/medgen?term=%22Cogwheel%20rigidity%22%5BClinical%20Features%5D%20OR%2057469%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_67453"><div><strong>Frontal bossing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67453</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.">C0221354</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67453">Feature record</a> | <a href="/medgen?term=%22Frontal%20bossing%22%5BClinical%20Features%5D%20OR%2067453%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_745757"><div><strong>Macrocephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>745757</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.">C2243051</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/745757">Feature record</a> | <a href="/medgen?term=%22Macrocephaly%22%5BClinical%20Features%5D%20OR%20745757%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_57469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cogwheel rigidity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_67453" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontal bossing</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_745757" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrocephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7752" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rigidity</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115925" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bradykinesia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dementia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysarthria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8514" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskinesia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_43126" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lewy bodies</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65141" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Megalencephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66079" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Parkinsonian disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_375989" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Parkinsonism with favorable response to dopaminergic medication</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341172" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Poor speech</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334529" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Postural instability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66697" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Resting tremor</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68545" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Shuffling gait</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0796195[DISCUI]&test_type=Clinical" ref="ncbi_uid=208674">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=208674" target="_blank" href="/omim/300774">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=208674" ref="ncbi_uid=208674">V</a></span></span><span class="TLline">Early-onset parkinsonism-intellectual disability syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842750" ref="tree=MeSH" title="MedGen record for Parkinsonian syndrome due to neurodegenerative disease">Parkinsonian syndrome due to neurodegenerative disease</a></span><ul><li><span class="matched_ds">Early-onset parkinsonism-intellectual disability syndrome</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=2216&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Early-onset parkinsonism-intellectual disability syndrome</span> in Orphanet.</div></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/38233317">Clinical chorioamnionitis at term: definition, pathogenesis, microbiology, diagnosis, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jung E,
|
||
Romero R,
|
||
Suksai M,
|
||
Gotsch F,
|
||
Chaemsaithong P,
|
||
Erez O,
|
||
Conde-Agudelo A,
|
||
Gomez-Lopez N,
|
||
Berry SM,
|
||
Meyyazhagan A,
|
||
Yoon BH</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2024 Mar;230(3S):S807-S840.
|
||
Epub 2023 Mar 21
|
||
doi: 10.1016/j.ajog.2023.02.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38233317" target="_blank">38233317</a><a href="/pmc/articles/PMC11288098" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29712475">Developmental Delay, Treatment-Resistant Psychosis, and Early-Onset Dementia in a Man With 22q11 Deletion Syndrome and Huntington's Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farrell M,
|
||
Lichtenstein M,
|
||
Crowley JJ,
|
||
Filmyer DM,
|
||
Lázaro-Muñoz G,
|
||
Shaughnessy RA,
|
||
Mackenzie IR,
|
||
Hirsch-Reinshagen V,
|
||
Stowe R,
|
||
Evans JP,
|
||
Berg JS,
|
||
Szatkiewicz J,
|
||
Josiassen RC,
|
||
Sullivan PF</span><br />
|
||
<span class="medgenPMjournal">Am J Psychiatry</span>
|
||
2018 May 1;175(5):400-407.
|
||
doi: 10.1176/appi.ajp.2017.17060638.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29712475" target="_blank">29712475</a><a href="/pmc/articles/PMC5935124" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28417674">International Summit Consensus Statement: Intellectual Disability Inclusion in National Dementia Plans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Watchman K,
|
||
Janicki MP,
|
||
Splaine M,
|
||
Larsen FK,
|
||
Gomiero T,
|
||
Lucchino R</span><br />
|
||
<span class="medgenPMjournal">Am J Alzheimers Dis Other Demen</span>
|
||
2017 Jun;32(4):230-237.
|
||
Epub 2017 Apr 18
|
||
doi: 10.1177/1533317517704082.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28417674" target="_blank">28417674</a><a href="/pmc/articles/PMC10852755" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(early-onset%20parkinsonism-intellectual%20disability%20syndrome)%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 (20)</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/38233317">Clinical chorioamnionitis at term: definition, pathogenesis, microbiology, diagnosis, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jung E,
|
||
Romero R,
|
||
Suksai M,
|
||
Gotsch F,
|
||
Chaemsaithong P,
|
||
Erez O,
|
||
Conde-Agudelo A,
|
||
Gomez-Lopez N,
|
||
Berry SM,
|
||
Meyyazhagan A,
|
||
Yoon BH</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2024 Mar;230(3S):S807-S840.
|
||
Epub 2023 Mar 21
|
||
doi: 10.1016/j.ajog.2023.02.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38233317" target="_blank">38233317</a><a href="/pmc/articles/PMC11288098" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35678398">Atypical Alzheimer Disease Variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Polsinelli AJ,
|
||
Apostolova LG</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2022 Jun 1;28(3):676-701.
|
||
doi: 10.1212/CON.0000000000001082.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35678398" target="_blank">35678398</a><a href="/pmc/articles/PMC10028410" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34687637">Alzheimer's disease associated with Down syndrome: a genetic form of dementia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fortea J,
|
||
Zaman SH,
|
||
Hartley S,
|
||
Rafii MS,
|
||
Head E,
|
||
Carmona-Iragui M</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2021 Nov;20(11):930-942.
|
||
doi: 10.1016/S1474-4422(21)00245-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34687637" target="_blank">34687637</a><a href="/pmc/articles/PMC9387748" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26400113">Down syndrome--genetic and nutritional aspects of accompanying disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mazurek D,
|
||
Wyka J</span><br />
|
||
<span class="medgenPMjournal">Rocz Panstw Zakl Hig</span>
|
||
2015;66(3):189-94.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26400113" target="_blank">26400113</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622209">The epileptic encephalopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cross JH,
|
||
Guerrini R</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;111:619-26.
|
||
doi: 10.1016/B978-0-444-52891-9.00064-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622209" target="_blank">23622209</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Early-onset%20parkinsonism-intellectual%20disability%20syndrome%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 (229)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35678398">Atypical Alzheimer Disease Variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Polsinelli AJ,
|
||
Apostolova LG</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2022 Jun 1;28(3):676-701.
|
||
doi: 10.1212/CON.0000000000001082.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35678398" target="_blank">35678398</a><a href="/pmc/articles/PMC10028410" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34687637">Alzheimer's disease associated with Down syndrome: a genetic form of dementia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fortea J,
|
||
Zaman SH,
|
||
Hartley S,
|
||
Rafii MS,
|
||
Head E,
|
||
Carmona-Iragui M</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2021 Nov;20(11):930-942.
|
||
doi: 10.1016/S1474-4422(21)00245-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34687637" target="_blank">34687637</a><a href="/pmc/articles/PMC9387748" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31904117">SCN1A-related phenotypes: Epilepsy and beyond.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scheffer IE,
|
||
Nabbout R</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2019 Dec;60 Suppl 3:S17-S24.
|
||
doi: 10.1111/epi.16386.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31904117" target="_blank">31904117</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26400113">Down syndrome--genetic and nutritional aspects of accompanying disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mazurek D,
|
||
Wyka J</span><br />
|
||
<span class="medgenPMjournal">Rocz Panstw Zakl Hig</span>
|
||
2015;66(3):189-94.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26400113" target="_blank">26400113</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622209">The epileptic encephalopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cross JH,
|
||
Guerrini R</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;111:619-26.
|
||
doi: 10.1016/B978-0-444-52891-9.00064-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622209" target="_blank">23622209</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Early-onset%20parkinsonism-intellectual%20disability%20syndrome%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 (328)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39510608">17q12 microdeletion syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bhargav VSLV,
|
||
Venkatachari M,
|
||
Arun Babu T</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2024 Nov 7;17(11)
|
||
doi: 10.1136/bcr-2024-262697.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39510608" target="_blank">39510608</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38233317">Clinical chorioamnionitis at term: definition, pathogenesis, microbiology, diagnosis, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jung E,
|
||
Romero R,
|
||
Suksai M,
|
||
Gotsch F,
|
||
Chaemsaithong P,
|
||
Erez O,
|
||
Conde-Agudelo A,
|
||
Gomez-Lopez N,
|
||
Berry SM,
|
||
Meyyazhagan A,
|
||
Yoon BH</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2024 Mar;230(3S):S807-S840.
|
||
Epub 2023 Mar 21
|
||
doi: 10.1016/j.ajog.2023.02.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38233317" target="_blank">38233317</a><a href="/pmc/articles/PMC11288098" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34920839">A case of treatable encephalopathy, developmental regression, and proximal tremor.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hull M,
|
||
Emrick L,
|
||
Sadat R,
|
||
Parnes M</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2021 Dec;93:111-113.
|
||
Epub 2021 Dec 14
|
||
doi: 10.1016/j.parkreldis.2021.04.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34920839" target="_blank">34920839</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28050900">Planned early birth versus expectant management (waiting) for prelabour rupture of membranes at term (37 weeks or more).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Middleton P,
|
||
Shepherd E,
|
||
Flenady V,
|
||
McBain RD,
|
||
Crowther CA</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2017 Jan 4;1(1):CD005302.
|
||
doi: 10.1002/14651858.CD005302.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28050900" target="_blank">28050900</a><a href="/pmc/articles/PMC6464808" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25101330">Elosulfase alfa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haddley K</span><br />
|
||
<span class="medgenPMjournal">Drugs Today (Barc)</span>
|
||
2014 Jul;50(7):475-83.
|
||
doi: 10.1358/dot.2014.50.7.2177904.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25101330" target="_blank">25101330</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Early-onset%20parkinsonism-intellectual%20disability%20syndrome%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 (61)</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,
|
||
Smitka M,
|
||
Collins F,
|
||
Lek M,
|
||
Shahrooei M,
|
||
Ghavideldarestani M,
|
||
Herman I,
|
||
Rendu J,
|
||
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,
|
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Skraban CM,
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Andrew EH,
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<div class="nl"><a target="_blank" href="/pubmed/34654017">Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33597769">DLG4-related synaptopathy: a new rare brain disorder.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Early-onset%20parkinsonism-intellectual%20disability%20syndrome%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 (154)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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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/33597769">DLG4-related synaptopathy: a new rare brain disorder.</a></div>
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Boerrigter MM,
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Gómez-Andrés D,
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Aldinger KA,
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Marcos-Alcalde Í,
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Popp B,
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Everman DB,
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Lovgren AK,
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Arpin S,
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Bahrambeigi V,
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Beunders G,
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Bisgaard AM,
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Bjerregaard VA,
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Bruel AL,
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Challman TD,
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Cogné B,
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Coubes C,
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de Man SA,
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Denommé-Pichon AS,
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Dye TJ,
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Elmslie F,
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Feuk L,
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García-Miñaúr S,
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Gertler T,
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Giorgio E,
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Gruchy N,
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Haack TB,
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Haldeman-Englert CR,
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Haukanes BI,
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Hoyer J,
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Hurst ACE,
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Isidor B,
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Soller MJ,
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Kushary S,
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Kvarnung M,
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Landau YE,
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Leppig KA,
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Lindstrand A,
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Kleinendorst L,
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MacKenzie A,
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Mandrile G,
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Mendelsohn BA,
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Moghadasi S,
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Morton JE,
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Moutton S,
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Müller AJ,
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O'Leary M,
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Pacio-Míguez M,
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Palomares-Bralo M,
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Parikh S,
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Pfundt R,
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Pode-Shakked B,
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Rauch A,
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Repnikova E,
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Revah-Politi A,
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Ross MJ,
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Ruivenkamp CAL,
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Sarrazin E,
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Savatt JM,
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Schlüter A,
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Schönewolf-Greulich B,
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Shad Z,
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Shaw-Smith C,
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Shieh JT,
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Shohat M,
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Spranger S,
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Thiese H,
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Mau-Them FT,
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van Bon B,
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van de Burgt I,
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van de Laar IMBH,
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van Drie E,
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van Haelst MM,
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van Ravenswaaij-Arts CM,
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Verdura E,
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Vitobello A,
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Waldmüller S,
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Whiting S,
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Zweier C,
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Prada CE,
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de Vries BBA,
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Reiter SF,
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<span class="bold">PMID: </span><a href="/pubmed/33597769" target="_blank">33597769</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28459997">Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28050900">Planned early birth versus expectant management (waiting) for prelabour rupture of membranes at term (37 weeks or more).</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/16472876">Mapping brain maturation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Toga AW,
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Thompson PM,
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Sowell ER</span><br />
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2006 Mar;29(3):148-59.
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<span class="bold">PMID: </span><a href="/pubmed/16472876" target="_blank">16472876</a><a href="/pmc/articles/PMC3113697" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Early-onset%20parkinsonism-intellectual%20disability%20syndrome%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 (190)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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<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/38954008">The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review.</a></div>
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Manti F,
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Ricciardi G,
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Cinnante EMC,
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<span class="bold">PMID: </span><a href="/pubmed/38954008" target="_blank">38954008</a><a href="/pmc/articles/PMC11322378" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34502159">Oral Microbiota Features in Subjects with Down Syndrome and Periodontal Diseases: A Systematic Review.</a></div>
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||
Serpico R,
|
||
Petruzzi M</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2021 Aug 26;22(17)
|
||
doi: 10.3390/ijms22179251.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34502159" target="_blank">34502159</a><a href="/pmc/articles/PMC8431440" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30873608">Phenotypic spectrum of NRXN1 mono- and bi-allelic deficiency: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castronovo P,
|
||
Baccarin M,
|
||
Ricciardello A,
|
||
Picinelli C,
|
||
Tomaiuolo P,
|
||
Cucinotta F,
|
||
Frittoli M,
|
||
Lintas C,
|
||
Sacco R,
|
||
Persico AM</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2020 Jan;97(1):125-137.
|
||
Epub 2019 May 7
|
||
doi: 10.1111/cge.13537.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30873608" target="_blank">30873608</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28289920">The Early Presentation of Dementia in People with Down Syndrome: a Systematic Review of Longitudinal Studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lautarescu BA,
|
||
Holland AJ,
|
||
Zaman SH</span><br />
|
||
<span class="medgenPMjournal">Neuropsychol Rev</span>
|
||
2017 Mar;27(1):31-45.
|
||
Epub 2017 Mar 13
|
||
doi: 10.1007/s11065-017-9341-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28289920" target="_blank">28289920</a><a href="/pmc/articles/PMC5359367" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28050900">Planned early birth versus expectant management (waiting) for prelabour rupture of membranes at term (37 weeks or more).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Middleton P,
|
||
Shepherd E,
|
||
Flenady V,
|
||
McBain RD,
|
||
Crowther CA</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2017 Jan 4;1(1):CD005302.
|
||
doi: 10.1002/14651858.CD005302.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28050900" target="_blank">28050900</a><a href="/pmc/articles/PMC6464808" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Early-onset%20parkinsonism-intellectual%20disability%20syndrome%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 (6)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<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>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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|
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|
||
<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0796195%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (9)</a></li>
|
||
<li><a href="/gtr/tests?term=C0796195%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (11)</a></li>
|
||
<li><a href="/gtr/tests?term=C0796195%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (6)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0796195%5bDISCUI%5d" target="_blank">See all (11)</a></total></li>
|
||
</ul></div>
|
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</div>
|
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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=311510" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2379" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Early-onset%20parkinsonism-intellectual%20disability%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></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=(early-onset%20parkinsonism-intellectual%20disability%20syndrome)%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Early-onset%20parkinsonism-intellectual%20disability%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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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|
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|
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=300774" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=116442[geneid]" target="_blank">View RAB39B variations in ClinVar</a></li><li><a href="/nuccore/255522792" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=311510" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
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</div>
|
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|
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/waisman_syndrome" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Early-onset%20parkinsonism-intellectual%20disability%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/3203/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
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<div class="portlet_title">
|
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<h3>Reviews</h3>
|
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</div>
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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|
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<ul>
|
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<li>
|
||
<a href="/pubmed/clinical?term=Early-onset%20parkinsonism-intellectual%20disability%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<li>
|
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<a href="/pubmed?term=Early-onset%20parkinsonism-intellectual%20disability%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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||
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|
||
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||
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|
||
|
||
<!-- MedGen supplemental column ends here -->
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<h3>Related information</h3>
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<div class="portlet_content DiscoveryDbLinks">
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|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=208674" ref="log$=recordlinks">ClinVar</a>
|
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
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</li>
|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=208674" ref="log$=recordlinks">Gene</a>
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0796195[DISCUI]" ref="log$=recordlinks">GTR</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0796195[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=208674" ref="log$=recordlinks">MeSH</a>
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=208674" ref="log$=recordlinks">OMIM</a>
|
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<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
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|
||
<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=208674" ref="log$=recordlinks">OMIM(Genes)</a>
|
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<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
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</li>
|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=208674" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=208674" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=208674" ref="log$=recordlinks">PubMed (OMIM)</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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|
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cd21f2a68b6b5afc94ab76">Early-onset parkinsonism-intellectual disability syndrome</a>
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<div class="ralinkpop offscreen_noflow">Early-onset parkinsonism-intellectual disability syndrome<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cd21f0f4a390645e679c6b">C2673677[trait identifier] AND "OMIM"[submitter] <span class="number">(9)</span></a>
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|
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<a class="htb" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cd21f084f3725e59590b9d">C0796195[conceptid] <span class="number">(1)</span></a>
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<a class="htb" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cd21eff4a390645e67986d">C1851945[trait identifier] AND "OMIM"[submitter] <span class="number">(6)</span></a>
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<div class="tertiary">ClinVar</div>
|
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</li>
|
||
<li class="ra_qry two_line">
|
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<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cd21eea68b6b5afc94961c">C3809824[trait identifier] AND "OMIM"[submitter] <span class="number">(3)</span></a>
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<div class="tertiary">ClinVar</div>
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