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<meta name="keywords" content="C0796215, ftsj1, ftsj1 non-syndromic x-linked intellectual disability, intellectual developmental disorder, x-linked 9, intellectual developmental disorder, x-linked 9, x-linked recessive, intellectual disability, x-linked 44, intellectual disability, x-linked 9, intellectual disability, x-linked type 9, mental or behavioral dysfunction, mental retardation, x-linked 44, mental retardation, x-linked 9, mental retardation, x-linked type 9, mrx44, mrx9, non-syndromic x-linked intellectual disability caused by mutation in ftsj1, xlid9, 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="X-linked intellectual developmental disorder-9 (XLID9) is characterized by moderately to severely impaired intellectual development. Some patients have also been reported with delayed motor development, seizures, and/or behavioral problems (Hamel et al., 1999; Froyen et al., 2007)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=167112
|
||
ConceptID=C0796215
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Intellectual disability, X-linked 9<span class="h1sub">(XLID9)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167112</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:">C0796215</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 9; MENTAL RETARDATION, X-LINKED 44; XLID9</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="FTSJ1 - ID: 24140 - NCBI Gene" href="/gene/24140" class="medgenPMinfo">FTSJ1</a> (Xp11.23)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010660" target="_blank">MONDO:0010660</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/309549" target="_blank">309549</a></td></tr>
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</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_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>
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||
<div class="portlet_content ln">X-linked intellectual developmental disorder-9 (XLID9) is characterized by moderately to severely impaired intellectual development. Some patients have also been reported with delayed motor development, seizures, and/or behavioral problems (Hamel et al., 1999; Froyen et al., 2007). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
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</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_326590"><div><strong>Short distal phalanx of finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326590</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.">C1839829</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326590">Feature record</a> | <a href="/medgen?term=%22Short%20distal%20phalanx%20of%20finger%22%5BClinical%20Features%5D%20OR%20326590%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_488785"><div><strong>Macrotia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488785</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.">C0152421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488785">Feature record</a> | <a href="/medgen?term=%22Macrotia%22%5BClinical%20Features%5D%20OR%20488785%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_1613"><div><strong>Anxiety</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1613</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.">C0003467</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1613">Feature record</a> | <a href="/medgen?term=%22Anxiety%22%5BClinical%20Features%5D%20OR%201613%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_13966"><div><strong>Autism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>13966</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.">C0004352</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options. Genetic Heterogeneity of Autism Autism is considered to be a complex multifactorial disorder involving many genes. Accordingly, several loci have been identified, some or all of which may contribute to the phenotype. Included in this entry is AUTS1, which has been mapped to chromosome 7q22. Other susceptibility loci include AUTS3 (608049), which maps to chromosome 13q14; AUTS4 (608636), which maps to chromosome 15q11; AUTS6 (609378), which maps to chromosome 17q11; AUTS7 (610676), which maps to chromosome 17q21; AUTS8 (607373), which maps to chromosome 3q25-q27; AUTS9 (611015), which maps to chromosome 7q31; AUTS10 (611016), which maps to chromosome 7q36; AUTS11 (610836), which maps to chromosome 1q41; AUTS12 (610838), which maps to chromosome 21p13-q11; AUTS13 (610908), which maps to chromosome 12q14; AUTS14A (611913), which has been found in patients with a deletion of a region of 16p11.2; AUTS14B (614671), which has been found in patients with a duplication of a region of 16p11.2; AUTS15 (612100), associated with mutation in the CNTNAP2 gene (604569) on chromosome 7q35-q36; AUTS16 (613410), associated with mutation in the SLC9A9 gene (608396) on chromosome 3q24; AUTS17 (613436), associated with mutation in the SHANK2 gene (603290) on chromosome 11q13; AUTS18 (615032), associated with mutation in the CHD8 gene (610528) on chromosome 14q11; AUTS19 (615091), associated with mutation in the EIF4E gene (133440) on chromosome 4q23; and AUTS20 (618830), associated with mutation in the NLGN1 gene (600568) on chromosome 3q26. (NOTE: the symbol 'AUTS2' has been used to refer to a gene on chromosome 7q11 (KIAA0442; 607270) and therefore is not used as a part of this autism locus series.) There are several X-linked forms of autism susceptibility: AUTSX1 (300425), associated with mutations in the NLGN3 gene (300336); AUTSX2 (300495), associated with mutations in NLGN4 (300427); AUTSX3 (300496), associated with mutations in MECP2 (300005); AUTSX4 (300830), associated with variation in the region on chromosome Xp22.11 containing the PTCHD1 gene (300828); AUTSX5 (300847), associated with mutations in the RPL10 gene (312173); and AUTSX6 (300872), associated with mutation in the TMLHE gene (300777). A locus on chromosome 2q (606053) associated with a phenotype including intellectual disability and speech deficits was formerly designated AUTS5. Folstein and Rosen-Sheidley (2001) reviewed the genetics of autism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/13966">Feature record</a> | <a href="/medgen?term=%22Autism%22%5BClinical%20Features%5D%20OR%2013966%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7680"><div><strong>Intellectual disability, moderate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7680</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026351</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7680">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20moderate%22%5BClinical%20Features%5D%20OR%207680%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_48574"><div><strong>Schizophrenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48574</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.">C0036341</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Schizophrenia is highly heritable, as shown by family, twin, and adoption studies. For example, for identical twins, if one twin develops schizophrenia, the other twin has about a 50% chance of also developing the disease. The risk of the general population developing the schizophrenia is about 0.3-0.7% worldwide. The search for “schizophrenia genes” has been elusive. Initial linkage studies looked at parts of the genome associated with schizophrenia, and many candidate genes were identified, including APOE, COMT, DAO, DRD1, DRD2, DRD4, DTNBP1, GABRB2, GRIN2B, HP, IL1B, MTHFR, PLXNA2, SLC6A4, TP53, and TPH1. However, some of these have later been questioned. Microdeletions and microduplications have been found to be three times more common in individuals with schizophrenia, compared to controls. Because these deletions and duplications are in genes that are overexpressed in pathways related to brain development, it is possible that the inheritance of multiple rare variants may contribute to the development of schizophrenia. Several genetic disorders feature schizophrenia as a clinical feature. The 22q11.2 Deletion Syndrome comprises many different syndromes, of which one of the most serious is DiGeorge syndrome. Children born with DiGeorge syndrome typically have heart defects, cleft palate, learning difficulties, and immune deficiency. Schizophrenia is a late manifestation, affecting around 30% of individuals. Microdeletions and duplications in chromosome 1, 2, 3, 7, 15 and 16 have also been associated with schizophrenia. In 2014, a genome-wide association study looked at the genomes of over 35,000 patients and 110,00 controls. The study identified 108 SNPs that were associated with schizophrenia, 83 of which had not been previously reported. As expected, many of these loci occurred in genes that are expressed in the brain. For example, the SNPs included a gene that encodes the dopamine D2 receptor, DRD2 (the target of antipsychotic drugs), and many genes involved in glutamine neurotransmitter pathways and synaptic plasticity (e.g., GRM3, GRIN2A, SRR, GRIA1). More surprisingly, however, associations were also enriched among genes expressed in tissues with important immune functions. In 2016, a study based on nearly 65,000 people investigated the association between schizophrenia and variation in the Major Histocompatibility Complex (MHC) locus—a region on chromosome 6 that is important for immune function. The study focused on the C4 gene (complement component 4) that exists as two distinct genes: C4A and C4B, which encode particularly structurally diverse alleles. The study found that the alleles which promoted greater expression of C4A in the brain were associated with a greater risk of schizophrenia. By using mice models, the study showed that C4 is involved in the elimination of synapses during brain maturation. In humans, “synaptic pruning” is most active during late adolescence, which coincides with the typical onset of symptoms of schizophrenia. It is therefore possible that the inheritance of specific C4A alleles could lead to “run away” synaptic pruning, increasing the risk of schizophrenia. Further research may even determine C4 as a potential therapeutic target.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/48574">Feature record</a> | <a href="/medgen?term=%22Schizophrenia%22%5BClinical%20Features%5D%20OR%2048574%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_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_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_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_373112"><div><strong>Depressed nasal bridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373112</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.">C1836542</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Posterior positioning of the nasal root in relation to the overall facial profile for age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373112">Feature record</a> | <a href="/medgen?term=%22Depressed%20nasal%20bridge%22%5BClinical%20Features%5D%20OR%20373112%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326567"><div><strong>Thick lower lip vermilion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326567</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.">C1839739</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326567">Feature record</a> | <a href="/medgen?term=%22Thick%20lower%20lip%20vermilion%22%5BClinical%20Features%5D%20OR%20326567%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340300"><div><strong>Long palpebral fissure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340300</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.">C1849340</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340300">Feature record</a> | <a href="/medgen?term=%22Long%20palpebral%20fissure%22%5BClinical%20Features%5D%20OR%20340300%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1710990"><div><strong>Periorbital fullness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1710990</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.">C4760994</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increase in periorbital soft tissue.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1710990">Feature record</a> | <a href="/medgen?term=%22Periorbital%20fullness%22%5BClinical%20Features%5D%20OR%201710990%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_373112" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depressed nasal bridge</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340300" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Long palpebral fissure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1710990" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Periorbital fullness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326567" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thick lower lip vermilion</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326590" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short distal phalanx of finger</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_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_1613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anxiety</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_13966" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autism</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_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_7680" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, moderate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_48574" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Schizophrenia</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></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_488785" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrotia</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/37506513">Cognitive and adaptive behaviors associated with disease severity and genotype in patients with mucopolysaccharidosis II.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yee KS,
|
||
Alexanderian D,
|
||
Merberg D,
|
||
Natarajan M,
|
||
Wang S,
|
||
Wu Y,
|
||
Whiteman DAH</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2023 Nov;140(3):107652.
|
||
Epub 2023 Jul 13
|
||
doi: 10.1016/j.ymgme.2023.107652.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37506513" target="_blank">37506513</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36107226">Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta AO,
|
||
Raymond G,
|
||
Pierpont EI,
|
||
Kemp S,
|
||
McIvor RS,
|
||
Rayannavar A,
|
||
Miller B,
|
||
Lund TC,
|
||
Orchard PJ</span><br />
|
||
<span class="medgenPMjournal">Expert Opin Biol Ther</span>
|
||
2022 Sep;22(9):1151-1162.
|
||
Epub 2022 Sep 19
|
||
doi: 10.1080/14712598.2022.2124857.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36107226" target="_blank">36107226</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33373467">MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mallack EJ,
|
||
Turk BR,
|
||
Yan H,
|
||
Price C,
|
||
Demetres M,
|
||
Moser AB,
|
||
Becker C,
|
||
Hollandsworth K,
|
||
Adang L,
|
||
Vanderver A,
|
||
Van Haren K,
|
||
Ruzhnikov M,
|
||
Kurtzberg J,
|
||
Maegawa G,
|
||
Orchard PJ,
|
||
Lund TC,
|
||
Raymond GV,
|
||
Regelmann M,
|
||
Orsini JJ,
|
||
Seeger E,
|
||
Kemp S,
|
||
Eichler F,
|
||
Fatemi A</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2021 May;44(3):728-739.
|
||
Epub 2021 Jan 9
|
||
doi: 10.1002/jimd.12356.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33373467" target="_blank">33373467</a><a href="/pmc/articles/PMC8113077" 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%209)%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 (30)</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/37674294">Epigenetic regulation of autophagy-related genes: Implications for neurodevelopmental disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lewerissa EI,
|
||
Nadif Kasri N,
|
||
Linda K</span><br />
|
||
<span class="medgenPMjournal">Autophagy</span>
|
||
2024 Jan;20(1):15-28.
|
||
Epub 2023 Sep 6
|
||
doi: 10.1080/15548627.2023.2250217.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37674294" target="_blank">37674294</a><a href="/pmc/articles/PMC10761153" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38254921">The Efficacy of a Human-Ready miniMECP2 Gene Therapy in a Pre-Clinical Model of Rett Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sadhu C,
|
||
Lyons C,
|
||
Oh J,
|
||
Jagadeeswaran I,
|
||
Gray SJ,
|
||
Sinnett SE</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Dec 24;15(1)
|
||
doi: 10.3390/genes15010031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38254921" target="_blank">38254921</a><a href="/pmc/articles/PMC10815157" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37882106">Natural history of Becker muscular dystrophy: a multicenter study of 225 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakamura A,
|
||
Matsumura T,
|
||
Ogata K,
|
||
Mori-Yoshimura M,
|
||
Takeshita E,
|
||
Kimura K,
|
||
Kawashima T,
|
||
Tomo Y,
|
||
Arahata H,
|
||
Miyazaki D,
|
||
Takeshima Y,
|
||
Takahashi T,
|
||
Ishigaki K,
|
||
Kuru S,
|
||
Wakisaka A,
|
||
Awano H,
|
||
Funato M,
|
||
Sato T,
|
||
Saito Y,
|
||
Takada H,
|
||
Sugie K,
|
||
Kobayashi M,
|
||
Ozasa S,
|
||
Fujii T,
|
||
Maegaki Y,
|
||
Oi H,
|
||
Tachimori H,
|
||
Komaki H</span><br />
|
||
<span class="medgenPMjournal">Ann Clin Transl Neurol</span>
|
||
2023 Dec;10(12):2360-2372.
|
||
Epub 2023 Oct 26
|
||
doi: 10.1002/acn3.51925.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37882106" target="_blank">37882106</a><a href="/pmc/articles/PMC10723226" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36107226">Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta AO,
|
||
Raymond G,
|
||
Pierpont EI,
|
||
Kemp S,
|
||
McIvor RS,
|
||
Rayannavar A,
|
||
Miller B,
|
||
Lund TC,
|
||
Orchard PJ</span><br />
|
||
<span class="medgenPMjournal">Expert Opin Biol Ther</span>
|
||
2022 Sep;22(9):1151-1162.
|
||
Epub 2022 Sep 19
|
||
doi: 10.1080/14712598.2022.2124857.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36107226" target="_blank">36107226</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34679181">Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Geest FS,
|
||
Groeneweg S,
|
||
van den Akker ELT,
|
||
Bacos I,
|
||
Barca D,
|
||
van den Berg SAA,
|
||
Bertini E,
|
||
Brunner D,
|
||
Brunetti-Pierri N,
|
||
Cappa M,
|
||
Cappuccio G,
|
||
Chatterjee K,
|
||
Chesover AD,
|
||
Christian P,
|
||
Coutant R,
|
||
Craiu D,
|
||
Crock P,
|
||
Dewey C,
|
||
Dica A,
|
||
Dimitri P,
|
||
Dubey R,
|
||
Enderli A,
|
||
Fairchild J,
|
||
Gallichan J,
|
||
Garibaldi LR,
|
||
George B,
|
||
Hackenberg A,
|
||
Heinrich B,
|
||
Huynh T,
|
||
Kłosowska A,
|
||
Lawson-Yuen A,
|
||
Linder-Lucht M,
|
||
Lyons G,
|
||
Monti Lora F,
|
||
Moran C,
|
||
Müller KE,
|
||
Paone L,
|
||
Paul PG,
|
||
Polak M,
|
||
Porta F,
|
||
Reinauer C,
|
||
de Rijke YB,
|
||
Seckold R,
|
||
Menevşe TS,
|
||
Simm P,
|
||
Simon A,
|
||
Spada M,
|
||
Stoupa A,
|
||
Szeifert L,
|
||
Tonduti D,
|
||
van Toor H,
|
||
Turan S,
|
||
Vanderniet J,
|
||
de Waart M,
|
||
van der Wal R,
|
||
van der Walt A,
|
||
van Wermeskerken AM,
|
||
Wierzba J,
|
||
Zibordi F,
|
||
Zung A,
|
||
Peeters RP,
|
||
Visser WE</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2022 Feb 17;107(3):e1136-e1147.
|
||
doi: 10.1210/clinem/dgab750.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34679181" target="_blank">34679181</a><a href="/pmc/articles/PMC8852204" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20X-linked%209%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 (149)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35678782">Rare pathogenic variants in WNK3 cause X-linked intellectual disability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Küry S,
|
||
Zhang J,
|
||
Besnard T,
|
||
Caro-Llopis A,
|
||
Zeng X,
|
||
Robert SM,
|
||
Josiah SS,
|
||
Kiziltug E,
|
||
Denommé-Pichon AS,
|
||
Cogné B,
|
||
Kundishora AJ,
|
||
Hao LT,
|
||
Li H,
|
||
Stevenson RE,
|
||
Louie RJ,
|
||
Deb W,
|
||
Torti E,
|
||
Vignard V,
|
||
McWalter K,
|
||
Raymond FL,
|
||
Rajabi F,
|
||
Ranza E,
|
||
Grozeva D,
|
||
Coury SA,
|
||
Blanc X,
|
||
Brischoux-Boucher E,
|
||
Keren B,
|
||
Õunap K,
|
||
Reinson K,
|
||
Ilves P,
|
||
Wentzensen IM,
|
||
Barr EE,
|
||
Guihard SH,
|
||
Charles P,
|
||
Seaby EG,
|
||
Monaghan KG,
|
||
Rio M,
|
||
van Bever Y,
|
||
van Slegtenhorst M,
|
||
Chung WK,
|
||
Wilson A,
|
||
Quinquis D,
|
||
Bréhéret F,
|
||
Retterer K,
|
||
Lindenbaum P,
|
||
Scalais E,
|
||
Rhodes L,
|
||
Stouffs K,
|
||
Pereira EM,
|
||
Berger SM,
|
||
Milla SS,
|
||
Jaykumar AB,
|
||
Cobb MH,
|
||
Panchagnula S,
|
||
Duy PQ,
|
||
Vincent M,
|
||
Mercier S,
|
||
Gilbert-Dussardier B,
|
||
Le Guillou X,
|
||
Audebert-Bellanger S,
|
||
Odent S,
|
||
Schmitt S,
|
||
Boisseau P,
|
||
Bonneau D,
|
||
Toutain A,
|
||
Colin E,
|
||
Pasquier L,
|
||
Redon R,
|
||
Bouman A,
|
||
Rosenfeld JA,
|
||
Friez MJ,
|
||
Pérez-Peña H,
|
||
Akhtar Rizvi SR,
|
||
Haider S,
|
||
Antonarakis SE,
|
||
Schwartz CE,
|
||
Martínez F,
|
||
Bézieau S,
|
||
Kahle KT,
|
||
Isidor B</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2022 Sep;24(9):1941-1951.
|
||
Epub 2022 Jun 9
|
||
doi: 10.1016/j.gim.2022.05.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35678782" target="_blank">35678782</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35269535">Evaluation of Neurofilament Light Chain as a Biomarker of Neurodegeneration in X-Linked Childhood Cerebral Adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang H,
|
||
Davison MD,
|
||
Kramer ML,
|
||
Qiu W,
|
||
Gladysheva T,
|
||
Chiang RMS,
|
||
Kayatekin C,
|
||
Nascene DR,
|
||
Taghizadeh LA,
|
||
King CJ,
|
||
Nolan EE,
|
||
Gupta AO,
|
||
Orchard PJ,
|
||
Lund TC</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2022 Mar 7;11(5)
|
||
doi: 10.3390/cells11050913.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35269535" target="_blank">35269535</a><a href="/pmc/articles/PMC8909395" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34374989">Spectrum of neuro-genetic disorders in the United Arab Emirates national population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saleh S,
|
||
Beyyumi E,
|
||
Al Kaabi A,
|
||
Hertecant J,
|
||
Barakat D,
|
||
Al Dhaheri NS,
|
||
Al-Gazali L,
|
||
Al Shamsi A</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2021 Nov;100(5):573-600.
|
||
Epub 2021 Aug 19
|
||
doi: 10.1111/cge.14044.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34374989" target="_blank">34374989</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28097321">Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reuter MS,
|
||
Tawamie H,
|
||
Buchert R,
|
||
Hosny Gebril O,
|
||
Froukh T,
|
||
Thiel C,
|
||
Uebe S,
|
||
Ekici AB,
|
||
Krumbiegel M,
|
||
Zweier C,
|
||
Hoyer J,
|
||
Eberlein K,
|
||
Bauer J,
|
||
Scheller U,
|
||
Strom TM,
|
||
Hoffjan S,
|
||
Abdelraouf ER,
|
||
Meguid NA,
|
||
Abboud A,
|
||
Al Khateeb MA,
|
||
Fakher M,
|
||
Hamdan S,
|
||
Ismael A,
|
||
Muhammad S,
|
||
Abdallah E,
|
||
Sticht H,
|
||
Wieczorek D,
|
||
Reis A,
|
||
Abou Jamra R</span><br />
|
||
<span class="medgenPMjournal">JAMA Psychiatry</span>
|
||
2017 Mar 1;74(3):293-299.
|
||
doi: 10.1001/jamapsychiatry.2016.3798.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28097321" target="_blank">28097321</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25238977">Simpson-Golabi-Behmel syndrome types I and II.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tenorio J,
|
||
Arias P,
|
||
Martínez-Glez V,
|
||
Santos F,
|
||
García-Miñaur S,
|
||
Nevado J,
|
||
Lapunzina P</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2014 Sep 20;9:138.
|
||
doi: 10.1186/s13023-014-0138-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25238977" target="_blank">25238977</a><a href="/pmc/articles/PMC4254265" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20X-linked%209%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 (242)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39556016">Phase 1 Study of AAV9.LAMP2B Gene Therapy in Danon Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Greenberg B,
|
||
Taylor M,
|
||
Adler E,
|
||
Colan S,
|
||
Ricks D,
|
||
Yarabe P,
|
||
Battiprolu P,
|
||
Shah G,
|
||
Patel K,
|
||
Coggins M,
|
||
Carou-Keenan S,
|
||
Schwartz JD,
|
||
Rossano JW</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2025 Mar 6;392(10):972-983.
|
||
Epub 2024 Nov 18
|
||
doi: 10.1056/NEJMoa2412392.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39556016" target="_blank">39556016</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38254921">The Efficacy of a Human-Ready miniMECP2 Gene Therapy in a Pre-Clinical Model of Rett Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sadhu C,
|
||
Lyons C,
|
||
Oh J,
|
||
Jagadeeswaran I,
|
||
Gray SJ,
|
||
Sinnett SE</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Dec 24;15(1)
|
||
doi: 10.3390/genes15010031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38254921" target="_blank">38254921</a><a href="/pmc/articles/PMC10815157" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
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<div class="nl"><a target="_blank" href="/pubmed/34679181">Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">van Geest FS,
|
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Groeneweg S,
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van den Akker ELT,
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Bacos I,
|
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Barca D,
|
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van den Berg SAA,
|
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Bertini E,
|
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Brunner D,
|
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Brunetti-Pierri N,
|
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Cappa M,
|
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Cappuccio G,
|
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Chatterjee K,
|
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Chesover AD,
|
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Christian P,
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Coutant R,
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Craiu D,
|
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Crock P,
|
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Dewey C,
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Dica A,
|
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Dimitri P,
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Dubey R,
|
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Enderli A,
|
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Fairchild J,
|
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Gallichan J,
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Garibaldi LR,
|
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George B,
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Hackenberg A,
|
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Heinrich B,
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Huynh T,
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Kłosowska A,
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Lawson-Yuen A,
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Linder-Lucht M,
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Lyons G,
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Monti Lora F,
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Moran C,
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Müller KE,
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Paone L,
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Paul PG,
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Polak M,
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Porta F,
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Reinauer C,
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de Rijke YB,
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Seckold R,
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Menevşe TS,
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Simm P,
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Simon A,
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Spada M,
|
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Stoupa A,
|
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Szeifert L,
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Tonduti D,
|
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van Toor H,
|
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Turan S,
|
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Vanderniet J,
|
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de Waart M,
|
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van der Wal R,
|
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van der Walt A,
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van Wermeskerken AM,
|
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Wierzba J,
|
||
Zibordi F,
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||
Zung A,
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Peeters RP,
|
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Visser WE</span><br />
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<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
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2022 Feb 17;107(3):e1136-e1147.
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doi: 10.1210/clinem/dgab750.
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<span class="bold">PMID: </span><a href="/pubmed/34679181" target="_blank">34679181</a><a href="/pmc/articles/PMC8852204" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33198194">E3 Ubiquitin Ligase TRIP12: Regulation, Structure, and Physiopathological Functions.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Brunet M,
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2020 Nov 12;21(22)
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<div class="nl"><a target="_blank" href="/pubmed/27312864">Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history.</a></div>
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Huffnagel IC,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20X-linked%209%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 (105)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37882106">Natural history of Becker muscular dystrophy: a multicenter study of 225 patients.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nakamura A,
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Matsumura T,
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Ogata K,
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Mori-Yoshimura M,
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Takeshita E,
|
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Kimura K,
|
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Kawashima T,
|
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Tomo Y,
|
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Arahata H,
|
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Miyazaki D,
|
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Takeshima Y,
|
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Takahashi T,
|
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Ishigaki K,
|
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Kuru S,
|
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Wakisaka A,
|
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Awano H,
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Funato M,
|
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Sato T,
|
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Saito Y,
|
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Takada H,
|
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Sugie K,
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Kobayashi M,
|
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Ozasa S,
|
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Fujii T,
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Maegaki Y,
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Oi H,
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Tachimori H,
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Komaki H</span><br />
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<span class="medgenPMjournal">Ann Clin Transl Neurol</span>
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2023 Dec;10(12):2360-2372.
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Epub 2023 Oct 26
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doi: 10.1002/acn3.51925.
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<span class="bold">PMID: </span><a href="/pubmed/37882106" target="_blank">37882106</a><a href="/pmc/articles/PMC10723226" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33198194">E3 Ubiquitin Ligase TRIP12: Regulation, Structure, and Physiopathological Functions.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Brunet M,
|
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Vargas C,
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Larrieu D,
|
||
Torrisani J,
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Dufresne M</span><br />
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<span class="medgenPMjournal">Int J Mol Sci</span>
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2020 Nov 12;21(22)
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doi: 10.3390/ijms21228515.
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<span class="bold">PMID: </span><a href="/pubmed/33198194" target="_blank">33198194</a><a href="/pmc/articles/PMC7697007" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31516082">The expanding phenotypes of cohesinopathies: one ring to rule them all!</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Piché J,
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<div class="nl"><a target="_blank" href="/pubmed/25238977">Simpson-Golabi-Behmel syndrome types I and II.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tenorio J,
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Arias P,
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Martínez-Glez V,
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Santos F,
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Nevado J,
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<span class="bold">PMID: </span><a href="/pubmed/25238977" target="_blank">25238977</a><a href="/pmc/articles/PMC4254265" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/22361452">Congenital abnormalities in Japanese patients with Menkes disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gu YH,
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<span class="bold">PMID: </span><a href="/pubmed/22361452" target="_blank">22361452</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20X-linked%209%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 (167)</a></div></div>
|
||
</div>
|
||
|
||
<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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/33373467">MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mallack EJ,
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Turk BR,
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Yan H,
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Price C,
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Demetres M,
|
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Moser AB,
|
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Becker C,
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Hollandsworth K,
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Adang L,
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Vanderver A,
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Van Haren K,
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Ruzhnikov M,
|
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Kurtzberg J,
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Maegawa G,
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Orchard PJ,
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||
Lund TC,
|
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Raymond GV,
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Regelmann M,
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Orsini JJ,
|
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Seeger E,
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Kemp S,
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Eichler F,
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Fatemi A</span><br />
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Epub 2021 Jan 9
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<span class="bold">PMID: </span><a href="/pubmed/33373467" target="_blank">33373467</a><a href="/pmc/articles/PMC8113077" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20X-linked%209%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
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|
||
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_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>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0796215%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (11)</a></li>
|
||
<li><a href="/gtr/tests?term=C0796215%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0796215%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (16)</a></li>
|
||
<li><a href="/gtr/tests?term=C0796215%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0796215%5bDISCUI%5d" target="_blank">See all (19)</a></total></li>
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</ul></div>
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<div class="portlet mgSection" id="ID_119">
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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=309549" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Intellectual%20disability,%20X-linked%209" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(intellectual%20disability%2C%20x-linked%209)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc3ecdf4a390645ea6f510">Intellectual disability, X-linked 9</a>
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