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<meta name="keywords" content="C4310817, disease or syndrome, frmpd4, frmpd4 non-syndromic x-linked intellectual disability, intellectual developmental disorder, x-linked 104, intellectual disability, x-linked 104, intellectual disability, x-linked type 104, mental retardation, x-linked 104, mental retardation, x-linked type 104, mrx104, non-syndromic x-linked intellectual disability caused by mutation in frmpd4, xlid104, 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="Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FRMPD4 gene." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=934784
|
||
ConceptID=C4310817
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Intellectual disability, X-linked 104<span class="h1sub">(XLID104)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934784</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:">C4310817</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>INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104; XLID104</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="FRMPD4 - ID: 9758 - NCBI Gene" href="/gene/9758" class="medgenPMinfo">FRMPD4</a> (Xp22.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010509" target="_blank">MONDO:0010509</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/300983" target="_blank">300983</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">Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FRMPD4 gene. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
|
||
</div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_167800"><div><strong>Abnormal pinna morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167800</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.">C0857379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the pinna, which is also referred to as the auricle or external ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/167800">Feature record</a> | <a href="/medgen?term=%22Abnormal%20pinna%20morphology%22%5BClinical%20Features%5D%20OR%20167800%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1375"><div><strong>Aggressive behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1375</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.">C0001807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Individual Behavior</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Aggressive%20behavior%22%5BClinical%20Features%5D%20OR%201375%5Buid%5D">Search on this feature</a></div></div>
|
||
<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_7753"><div><strong>Spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7753</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.">C0026838</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7753">Feature record</a> | <a href="/medgen?term=%22Spasticity%22%5BClinical%20Features%5D%20OR%207753%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_21635"><div><strong>Tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21635</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.">C0040822</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unintentional, oscillating to-and-fro muscle movement about a joint axis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21635">Feature record</a> | <a href="/medgen?term=%22Tremor%22%5BClinical%20Features%5D%20OR%2021635%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57738"><div><strong>Hyperreflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57738</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.">C0151889</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57738">Feature record</a> | <a href="/medgen?term=%22Hyperreflexia%22%5BClinical%20Features%5D%20OR%2057738%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66034"><div><strong>Delayed ability to walk</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66034</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.">C0241726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66034">Feature record</a> | <a href="/medgen?term=%22Delayed%20ability%20to%20walk%22%5BClinical%20Features%5D%20OR%2066034%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_138005"><div><strong>Hypoplasia of the corpus callosum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138005</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.">C0344482</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the corpus callosum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/138005">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20corpus%20callosum%22%5BClinical%20Features%5D%20OR%20138005%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98406"><div><strong>Hyperactivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98406</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.">C0424295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98406">Feature record</a> | <a href="/medgen?term=%22Hyperactivity%22%5BClinical%20Features%5D%20OR%2098406%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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_163547"><div><strong>Autistic behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163547</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0856975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163547">Feature record</a> | <a href="/medgen?term=%22Autistic%20behavior%22%5BClinical%20Features%5D%20OR%20163547%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_303190"><div><strong>Reduced eye contact</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>303190</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.">C1445953</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduced frequency or duration of eye contact.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/303190">Feature record</a> | <a href="/medgen?term=%22Reduced%20eye%20contact%22%5BClinical%20Features%5D%20OR%20303190%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332508"><div><strong>Delayed gross motor development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332508</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.">C1837658</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332508">Feature record</a> | <a href="/medgen?term=%22Delayed%20gross%20motor%20development%22%5BClinical%20Features%5D%20OR%20332508%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340737"><div><strong>Absent speech</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340737</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1854882</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Complete lack of development of speech and language abilities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340737">Feature record</a> | <a href="/medgen?term=%22Absent%20speech%22%5BClinical%20Features%5D%20OR%20340737%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867393"><div><strong>Delayed CNS myelination</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867393</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.">C4021758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Delayed myelination in the central nervous system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867393">Feature record</a> | <a href="/medgen?term=%22Delayed%20CNS%20myelination%22%5BClinical%20Features%5D%20OR%20867393%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1646740"><div><strong>Cerebral cortical atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646740</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.">C4551583</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy of the cortex of the cerebrum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1646740">Feature record</a> | <a href="/medgen?term=%22Cerebral%20cortical%20atrophy%22%5BClinical%20Features%5D%20OR%201646740%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19766"><div><strong>Retrognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19766</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.">C0035353</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality in which the mandible is mislocalised posteriorly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19766">Feature record</a> | <a href="/medgen?term=%22Retrognathia%22%5BClinical%20Features%5D%20OR%2019766%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82713"><div><strong>Trigonocephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82713</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.">C0265535</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82713">Feature record</a> | <a href="/medgen?term=%22Trigonocephaly%22%5BClinical%20Features%5D%20OR%2082713%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65991"><div><strong>High forehead</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65991</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.">C0239676</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased height of the forehead.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65991">Feature record</a> | <a href="/medgen?term=%22High%20forehead%22%5BClinical%20Features%5D%20OR%2065991%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66814"><div><strong>High palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66814</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.">C0240635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66814">Feature record</a> | <a href="/medgen?term=%22High%20palate%22%5BClinical%20Features%5D%20OR%2066814%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140870"><div><strong>Bifid nasal tip</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140870</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.">C0426428</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140870">Feature record</a> | <a href="/medgen?term=%22Bifid%20nasal%20tip%22%5BClinical%20Features%5D%20OR%20140870%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_341441"><div><strong>Wide nasal bridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341441</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.">C1849367</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased breadth of the nasal bridge (and with it, the nasal root).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341441">Feature record</a> | <a href="/medgen?term=%22Wide%20nasal%20bridge%22%5BClinical%20Features%5D%20OR%20341441%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_452910"><div><strong>Frontal upsweep of hair</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>452910</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.">C1185616</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Upward and/or sideward growth of anterior hair.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/452910">Feature record</a> | <a href="/medgen?term=%22Frontal%20upsweep%20of%20hair%22%5BClinical%20Features%5D%20OR%20452910%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_18180"><div><strong>Optic atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18180</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.">C0029124</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18180">Feature record</a> | <a href="/medgen?term=%22Optic%20atrophy%22%5BClinical%20Features%5D%20OR%2018180%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21337"><div><strong>Strabismus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21337</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.">C0038379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21337">Feature record</a> | <a href="/medgen?term=%22Strabismus%22%5BClinical%20Features%5D%20OR%2021337%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140870" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bifid nasal tip</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65991" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High forehead</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High palate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341441" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wide nasal bridge</a></span></li></ul></li><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_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_18180" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Strabismus</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_452910" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontal upsweep of hair</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19766" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retrognathia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Trigonocephaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absent speech</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1375" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aggressive behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163547" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autistic behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_1646740" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral cortical atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed ability to walk</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867393" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed CNS myelination</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332508" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed gross motor development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_98406" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperactivity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperreflexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_138005" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the corpus callosum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_303190" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced eye contact</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_7753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spasticity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tremor</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_167800" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal pinna morphology</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/19234788">Relative efficiencies of plasma catechol levels and ratios for neonatal diagnosis of menkes disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goldstein DS,
|
||
Holmes CS,
|
||
Kaler SG</span><br />
|
||
<span class="medgenPMjournal">Neurochem Res</span>
|
||
2009 Aug;34(8):1464-8.
|
||
Epub 2009 Feb 21
|
||
doi: 10.1007/s11064-009-9933-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19234788" target="_blank">19234788</a><a href="/pmc/articles/PMC3477515" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(intellectual%20disability%2C%20x-linked%20104)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39919255">Disease Burden in Female Patients With X-Linked Adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grant NR,
|
||
Li Y,
|
||
De La Rosa Abreu L,
|
||
Becker C,
|
||
Wishart BD,
|
||
Nagy A,
|
||
Eichler FS,
|
||
Sadjadi R</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2025 Mar 11;104(5):e213370.
|
||
Epub 2025 Feb 7
|
||
doi: 10.1212/WNL.0000000000213370.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39919255" target="_blank">39919255</a><a href="/pmc/articles/PMC11810135" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21700483">X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Y,
|
||
Busin R,
|
||
Reeves C,
|
||
Bezman L,
|
||
Raymond G,
|
||
Toomer CJ,
|
||
Watkins PA,
|
||
Snowden A,
|
||
Moser A,
|
||
Naidu S,
|
||
Bibat G,
|
||
Hewson S,
|
||
Tam K,
|
||
Clarke JT,
|
||
Charnas L,
|
||
Stetten G,
|
||
Karczeski B,
|
||
Cutting G,
|
||
Steinberg S</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2011 Sep-Oct;104(1-2):160-6.
|
||
Epub 2011 Jun 22
|
||
doi: 10.1016/j.ymgme.2011.05.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21700483" target="_blank">21700483</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20531469">Functional impact of global rare copy number variation in autism spectrum disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pinto D,
|
||
Pagnamenta AT,
|
||
Klei L,
|
||
Anney R,
|
||
Merico D,
|
||
Regan R,
|
||
Conroy J,
|
||
Magalhaes TR,
|
||
Correia C,
|
||
Abrahams BS,
|
||
Almeida J,
|
||
Bacchelli E,
|
||
Bader GD,
|
||
Bailey AJ,
|
||
Baird G,
|
||
Battaglia A,
|
||
Berney T,
|
||
Bolshakova N,
|
||
Bölte S,
|
||
Bolton PF,
|
||
Bourgeron T,
|
||
Brennan S,
|
||
Brian J,
|
||
Bryson SE,
|
||
Carson AR,
|
||
Casallo G,
|
||
Casey J,
|
||
Chung BH,
|
||
Cochrane L,
|
||
Corsello C,
|
||
Crawford EL,
|
||
Crossett A,
|
||
Cytrynbaum C,
|
||
Dawson G,
|
||
de Jonge M,
|
||
Delorme R,
|
||
Drmic I,
|
||
Duketis E,
|
||
Duque F,
|
||
Estes A,
|
||
Farrar P,
|
||
Fernandez BA,
|
||
Folstein SE,
|
||
Fombonne E,
|
||
Freitag CM,
|
||
Gilbert J,
|
||
Gillberg C,
|
||
Glessner JT,
|
||
Goldberg J,
|
||
Green A,
|
||
Green J,
|
||
Guter SJ,
|
||
Hakonarson H,
|
||
Heron EA,
|
||
Hill M,
|
||
Holt R,
|
||
Howe JL,
|
||
Hughes G,
|
||
Hus V,
|
||
Igliozzi R,
|
||
Kim C,
|
||
Klauck SM,
|
||
Kolevzon A,
|
||
Korvatska O,
|
||
Kustanovich V,
|
||
Lajonchere CM,
|
||
Lamb JA,
|
||
Laskawiec M,
|
||
Leboyer M,
|
||
Le Couteur A,
|
||
Leventhal BL,
|
||
Lionel AC,
|
||
Liu XQ,
|
||
Lord C,
|
||
Lotspeich L,
|
||
Lund SC,
|
||
Maestrini E,
|
||
Mahoney W,
|
||
Mantoulan C,
|
||
Marshall CR,
|
||
McConachie H,
|
||
McDougle CJ,
|
||
McGrath J,
|
||
McMahon WM,
|
||
Merikangas A,
|
||
Migita O,
|
||
Minshew NJ,
|
||
Mirza GK,
|
||
Munson J,
|
||
Nelson SF,
|
||
Noakes C,
|
||
Noor A,
|
||
Nygren G,
|
||
Oliveira G,
|
||
Papanikolaou K,
|
||
Parr JR,
|
||
Parrini B,
|
||
Paton T,
|
||
Pickles A,
|
||
Pilorge M,
|
||
Piven J,
|
||
Ponting CP,
|
||
Posey DJ,
|
||
Poustka A,
|
||
Poustka F,
|
||
Prasad A,
|
||
Ragoussis J,
|
||
Renshaw K,
|
||
Rickaby J,
|
||
Roberts W,
|
||
Roeder K,
|
||
Roge B,
|
||
Rutter ML,
|
||
Bierut LJ,
|
||
Rice JP,
|
||
Salt J,
|
||
Sansom K,
|
||
Sato D,
|
||
Segurado R,
|
||
Sequeira AF,
|
||
Senman L,
|
||
Shah N,
|
||
Sheffield VC,
|
||
Soorya L,
|
||
Sousa I,
|
||
Stein O,
|
||
Sykes N,
|
||
Stoppioni V,
|
||
Strawbridge C,
|
||
Tancredi R,
|
||
Tansey K,
|
||
Thiruvahindrapduram B,
|
||
Thompson AP,
|
||
Thomson S,
|
||
Tryfon A,
|
||
Tsiantis J,
|
||
Van Engeland H,
|
||
Vincent JB,
|
||
Volkmar F,
|
||
Wallace S,
|
||
Wang K,
|
||
Wang Z,
|
||
Wassink TH,
|
||
Webber C,
|
||
Weksberg R,
|
||
Wing K,
|
||
Wittemeyer K,
|
||
Wood S,
|
||
Wu J,
|
||
Yaspan BL,
|
||
Zurawiecki D,
|
||
Zwaigenbaum L,
|
||
Buxbaum JD,
|
||
Cantor RM,
|
||
Cook EH,
|
||
Coon H,
|
||
Cuccaro ML,
|
||
Devlin B,
|
||
Ennis S,
|
||
Gallagher L,
|
||
Geschwind DH,
|
||
Gill M,
|
||
Haines JL,
|
||
Hallmayer J,
|
||
Miller J,
|
||
Monaco AP,
|
||
Nurnberger JI Jr,
|
||
Paterson AD,
|
||
Pericak-Vance MA,
|
||
Schellenberg GD,
|
||
Szatmari P,
|
||
Vicente AM,
|
||
Vieland VJ,
|
||
Wijsman EM,
|
||
Scherer SW,
|
||
Sutcliffe JS,
|
||
Betancur C</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2010 Jul 15;466(7304):368-72.
|
||
Epub 2010 Jun 9
|
||
doi: 10.1038/nature09146.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20531469" target="_blank">20531469</a><a href="/pmc/articles/PMC3021798" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15073029">Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peters C,
|
||
Charnas LR,
|
||
Tan Y,
|
||
Ziegler RS,
|
||
Shapiro EG,
|
||
DeFor T,
|
||
Grewal SS,
|
||
Orchard PJ,
|
||
Abel SL,
|
||
Goldman AI,
|
||
Ramsay NK,
|
||
Dusenbery KE,
|
||
Loes DJ,
|
||
Lockman LA,
|
||
Kato S,
|
||
Aubourg PR,
|
||
Moser HW,
|
||
Krivit W</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2004 Aug 1;104(3):881-8.
|
||
Epub 2004 Apr 8
|
||
doi: 10.1182/blood-2003-10-3402.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15073029" target="_blank">15073029</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11161835">Genes responsible for nonspecific mental retardation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castellví-Bel S,
|
||
Milà M</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2001 Feb;72(2):104-8.
|
||
doi: 10.1006/mgme.2000.3128.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11161835" target="_blank">11161835</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20X-linked%20104%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 (10)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39919255">Disease Burden in Female Patients With X-Linked Adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grant NR,
|
||
Li Y,
|
||
De La Rosa Abreu L,
|
||
Becker C,
|
||
Wishart BD,
|
||
Nagy A,
|
||
Eichler FS,
|
||
Sadjadi R</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2025 Mar 11;104(5):e213370.
|
||
Epub 2025 Feb 7
|
||
doi: 10.1212/WNL.0000000000213370.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39919255" target="_blank">39919255</a><a href="/pmc/articles/PMC11810135" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37583270">Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nagarajan B,
|
||
Gowda VK,
|
||
Yoganathan S,
|
||
Sharawat IK,
|
||
Srivastava K,
|
||
Vora N,
|
||
Badheka R,
|
||
Danda S,
|
||
Kalane U,
|
||
Kaur A,
|
||
Madaan P,
|
||
Mehta S,
|
||
Negi S,
|
||
Panda PK,
|
||
Rajadhyaksha S,
|
||
Saini AG,
|
||
Saini L,
|
||
Shah S,
|
||
Srinivasan VM,
|
||
Suthar R,
|
||
Thomas M,
|
||
Vyas S,
|
||
Sankhyan N,
|
||
Sahu JK</span><br />
|
||
<span class="medgenPMjournal">Epilepsia Open</span>
|
||
2023 Dec;8(4):1383-1404.
|
||
Epub 2023 Aug 25
|
||
doi: 10.1002/epi4.12811.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37583270" target="_blank">37583270</a><a href="/pmc/articles/PMC10690684" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28293299">Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schenkel LC,
|
||
Kernohan KD,
|
||
McBride A,
|
||
Reina D,
|
||
Hodge A,
|
||
Ainsworth PJ,
|
||
Rodenhiser DI,
|
||
Pare G,
|
||
Bérubé NG,
|
||
Skinner C,
|
||
Boycott KM,
|
||
Schwartz C,
|
||
Sadikovic B</span><br />
|
||
<span class="medgenPMjournal">Epigenetics Chromatin</span>
|
||
2017;10:10.
|
||
Epub 2017 Mar 10
|
||
doi: 10.1186/s13072-017-0118-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28293299" target="_blank">28293299</a><a href="/pmc/articles/PMC5345252" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21700483">X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Y,
|
||
Busin R,
|
||
Reeves C,
|
||
Bezman L,
|
||
Raymond G,
|
||
Toomer CJ,
|
||
Watkins PA,
|
||
Snowden A,
|
||
Moser A,
|
||
Naidu S,
|
||
Bibat G,
|
||
Hewson S,
|
||
Tam K,
|
||
Clarke JT,
|
||
Charnas L,
|
||
Stetten G,
|
||
Karczeski B,
|
||
Cutting G,
|
||
Steinberg S</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2011 Sep-Oct;104(1-2):160-6.
|
||
Epub 2011 Jun 22
|
||
doi: 10.1016/j.ymgme.2011.05.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21700483" target="_blank">21700483</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18190539">Finding new etiologies of mental retardation and hypotonia: X marks the spot.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rogers RC,
|
||
Stevenson RE,
|
||
Simensen RJ,
|
||
Holden KR,
|
||
Schwartz CE</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2008 Feb;50(2):104-11.
|
||
Epub 2008 Jan 7
|
||
doi: 10.1111/j.1469-8749.2007.02022.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18190539" target="_blank">18190539</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20X-linked%20104%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 (15)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38454486">Analysis of caregiver perspectives on patients with mucopolysaccharidosis II treated with pabinafusp alfa: results of qualitative interviews in Japan.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakamura K,
|
||
Sakai N,
|
||
Hossain MA,
|
||
Eisengart JB,
|
||
Yamamoto T,
|
||
Tanizawa K,
|
||
So S,
|
||
Schmidt M,
|
||
Sato Y</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2024 Mar 7;19(1):104.
|
||
doi: 10.1186/s13023-024-03112-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38454486" target="_blank">38454486</a><a href="/pmc/articles/PMC10921713" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27899087">Paradoxical physiological responses to propranolol in a Rett syndrome patient: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santosh PJ,
|
||
Bell L,
|
||
Lievesley K,
|
||
Singh J,
|
||
Fiori F</span><br />
|
||
<span class="medgenPMjournal">BMC Pediatr</span>
|
||
2016 Nov 29;16(1):194.
|
||
doi: 10.1186/s12887-016-0734-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27899087" target="_blank">27899087</a><a href="/pmc/articles/PMC5129599" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26836218">A model-based approach to assess the exposure-response relationship of Lorenzo's oil in adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ahmed MA,
|
||
Kartha RV,
|
||
Brundage RC,
|
||
Cloyd J,
|
||
Basu C,
|
||
Carlin BP,
|
||
Jones RO,
|
||
Moser AB,
|
||
Fatemi A,
|
||
Raymond GV</span><br />
|
||
<span class="medgenPMjournal">Br J Clin Pharmacol</span>
|
||
2016 Jun;81(6):1058-66.
|
||
Epub 2016 Apr 3
|
||
doi: 10.1111/bcp.12897.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26836218" target="_blank">26836218</a><a href="/pmc/articles/PMC4876192" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15073029">Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peters C,
|
||
Charnas LR,
|
||
Tan Y,
|
||
Ziegler RS,
|
||
Shapiro EG,
|
||
DeFor T,
|
||
Grewal SS,
|
||
Orchard PJ,
|
||
Abel SL,
|
||
Goldman AI,
|
||
Ramsay NK,
|
||
Dusenbery KE,
|
||
Loes DJ,
|
||
Lockman LA,
|
||
Kato S,
|
||
Aubourg PR,
|
||
Moser HW,
|
||
Krivit W</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2004 Aug 1;104(3):881-8.
|
||
Epub 2004 Apr 8
|
||
doi: 10.1182/blood-2003-10-3402.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15073029" target="_blank">15073029</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9266390">Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Naito E,
|
||
Ito M,
|
||
Yokota I,
|
||
Saijo T,
|
||
Matsuda J,
|
||
Osaka H,
|
||
Kimura S,
|
||
Kuroda Y</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1997 Aug;20(4):539-48.
|
||
doi: 10.1023/a:1005305614374.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9266390" target="_blank">9266390</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20X-linked%20104%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 (7)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39919255">Disease Burden in Female Patients With X-Linked Adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grant NR,
|
||
Li Y,
|
||
De La Rosa Abreu L,
|
||
Becker C,
|
||
Wishart BD,
|
||
Nagy A,
|
||
Eichler FS,
|
||
Sadjadi R</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2025 Mar 11;104(5):e213370.
|
||
Epub 2025 Feb 7
|
||
doi: 10.1212/WNL.0000000000213370.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39919255" target="_blank">39919255</a><a href="/pmc/articles/PMC11810135" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36476360">CUL4B-associated epilepsy: Report of a novel truncating variant promoting drug-resistant seizures and systematic review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Della Vecchia S,
|
||
Lopergolo D,
|
||
Trovato R,
|
||
Pasquariello R,
|
||
Ferrari AR,
|
||
Bartolini E</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2023 Jan;104:32-37.
|
||
Epub 2022 Nov 29
|
||
doi: 10.1016/j.seizure.2022.11.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36476360" target="_blank">36476360</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28669401">A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Greene D;
|
||
NIHR BioResource,
|
||
Richardson S,
|
||
Turro E</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2017 Jul 6;101(1):104-114.
|
||
Epub 2017 Jun 29
|
||
doi: 10.1016/j.ajhg.2017.05.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28669401" target="_blank">28669401</a><a href="/pmc/articles/PMC5501869" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21700483">X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Y,
|
||
Busin R,
|
||
Reeves C,
|
||
Bezman L,
|
||
Raymond G,
|
||
Toomer CJ,
|
||
Watkins PA,
|
||
Snowden A,
|
||
Moser A,
|
||
Naidu S,
|
||
Bibat G,
|
||
Hewson S,
|
||
Tam K,
|
||
Clarke JT,
|
||
Charnas L,
|
||
Stetten G,
|
||
Karczeski B,
|
||
Cutting G,
|
||
Steinberg S</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2011 Sep-Oct;104(1-2):160-6.
|
||
Epub 2011 Jun 22
|
||
doi: 10.1016/j.ymgme.2011.05.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21700483" target="_blank">21700483</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15073029">Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peters C,
|
||
Charnas LR,
|
||
Tan Y,
|
||
Ziegler RS,
|
||
Shapiro EG,
|
||
DeFor T,
|
||
Grewal SS,
|
||
Orchard PJ,
|
||
Abel SL,
|
||
Goldman AI,
|
||
Ramsay NK,
|
||
Dusenbery KE,
|
||
Loes DJ,
|
||
Lockman LA,
|
||
Kato S,
|
||
Aubourg PR,
|
||
Moser HW,
|
||
Krivit W</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2004 Aug 1;104(3):881-8.
|
||
Epub 2004 Apr 8
|
||
doi: 10.1182/blood-2003-10-3402.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15073029" target="_blank">15073029</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20X-linked%20104%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 (10)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39928819">Clinical and genetic analysis of a female child with duplications at 7p22.3p22.1 and Xp22.31p21.1: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bu C,
|
||
Zha Xi Q,
|
||
Deng Y</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2025 Feb 7;104(6):e41452.
|
||
doi: 10.1097/MD.0000000000041452.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39928819" target="_blank">39928819</a><a href="/pmc/articles/PMC11813060" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38454486">Analysis of caregiver perspectives on patients with mucopolysaccharidosis II treated with pabinafusp alfa: results of qualitative interviews in Japan.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakamura K,
|
||
Sakai N,
|
||
Hossain MA,
|
||
Eisengart JB,
|
||
Yamamoto T,
|
||
Tanizawa K,
|
||
So S,
|
||
Schmidt M,
|
||
Sato Y</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2024 Mar 7;19(1):104.
|
||
doi: 10.1186/s13023-024-03112-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38454486" target="_blank">38454486</a><a href="/pmc/articles/PMC10921713" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37583270">Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nagarajan B,
|
||
Gowda VK,
|
||
Yoganathan S,
|
||
Sharawat IK,
|
||
Srivastava K,
|
||
Vora N,
|
||
Badheka R,
|
||
Danda S,
|
||
Kalane U,
|
||
Kaur A,
|
||
Madaan P,
|
||
Mehta S,
|
||
Negi S,
|
||
Panda PK,
|
||
Rajadhyaksha S,
|
||
Saini AG,
|
||
Saini L,
|
||
Shah S,
|
||
Srinivasan VM,
|
||
Suthar R,
|
||
Thomas M,
|
||
Vyas S,
|
||
Sankhyan N,
|
||
Sahu JK</span><br />
|
||
<span class="medgenPMjournal">Epilepsia Open</span>
|
||
2023 Dec;8(4):1383-1404.
|
||
Epub 2023 Aug 25
|
||
doi: 10.1002/epi4.12811.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37583270" target="_blank">37583270</a><a href="/pmc/articles/PMC10690684" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28669401">A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Greene D;
|
||
NIHR BioResource,
|
||
Richardson S,
|
||
Turro E</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2017 Jul 6;101(1):104-114.
|
||
Epub 2017 Jun 29
|
||
doi: 10.1016/j.ajhg.2017.05.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28669401" target="_blank">28669401</a><a href="/pmc/articles/PMC5501869" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15073029">Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peters C,
|
||
Charnas LR,
|
||
Tan Y,
|
||
Ziegler RS,
|
||
Shapiro EG,
|
||
DeFor T,
|
||
Grewal SS,
|
||
Orchard PJ,
|
||
Abel SL,
|
||
Goldman AI,
|
||
Ramsay NK,
|
||
Dusenbery KE,
|
||
Loes DJ,
|
||
Lockman LA,
|
||
Kato S,
|
||
Aubourg PR,
|
||
Moser HW,
|
||
Krivit W</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2004 Aug 1;104(3):881-8.
|
||
Epub 2004 Apr 8
|
||
doi: 10.1182/blood-2003-10-3402.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15073029" target="_blank">15073029</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20X-linked%20104%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 (11)</a></div></div>
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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/36476360">CUL4B-associated epilepsy: Report of a novel truncating variant promoting drug-resistant seizures and systematic review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Della Vecchia S,
|
||
Lopergolo D,
|
||
Trovato R,
|
||
Pasquariello R,
|
||
Ferrari AR,
|
||
Bartolini E</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2023 Jan;104:32-37.
|
||
Epub 2022 Nov 29
|
||
doi: 10.1016/j.seizure.2022.11.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36476360" target="_blank">36476360</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20X-linked%20104%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4310817%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
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<li><a href="/gtr/tests?term=C4310817%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (8)</a></li>
|
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<li><a href="/gtr/tests?term=C4310817%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4310817%5bDISCUI%5d" target="_blank">See all (8)</a></total></li>
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