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<meta name="keywords" content="C5551510, disease or syndrome, il1rapl1, il1rapl1 non-syndromic x-linked intellectual disability, intellectual developmental disorder, x-linked 21, intellectual developmental disorder, x-linked 21, x-linked recessive, intellectual disability, x-linked 21, intellectual disability, x-linked 34, intellectual disability, x-linked type 21, mental retardation 21, x-linked, mental retardation, x-linked 21, mental retardation, x-linked 21/34, mental retardation, x-linked 34, mental retardation, x-linked type 21, mental retardation, x-linked, 21, mrx21, non-syndromic x-linked intellectual disability caused by mutation in il1rapl1, xlid21, 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="NR0B1-related adrenal hypoplasia congenita includes both X-linked adrenal hypoplasia congenita (X-linked AHC) and Xp21 deletion (previously called complex glycerol kinase deficiency). X-linked AHC is characterized by primary adrenal insufficiency and/or hypogonadotropic hypogonadism (HH). Adrenal insufficiency is acute infantile onset (average age 3 weeks) in approximately 60% of affected males and childhood onset (ages 1-9 years) in approximately 40%. HH typically manifests in a male with adrenal insufficiency as delayed puberty (i.e., onset age >14 years) and less commonly as arrested puberty at about Tanner Stage 3. Rarely, X-linked AHC manifests initially in early adulthood as delayed-onset adrenal insufficiency, partial HH, and/or infertility. Heterozygous females very occasionally have manifestations of adrenal insufficiency or hypogonadotropic hypogonadism. Xp21 deletion includes deletion of NR0B1 (causing X-linked AHC) and GK (causing glycerol kinase deficiency), and in some cases deletion of DMD (causing Duchenne muscular dystrophy). Developmental delay has been reported in males with Xp21 deletion when the deletion extends proximally to include DMD or when larger deletions extend distally to include IL1RAPL1 and DMD." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1790509
|
||
ConceptID=C5551510
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Intellectual disability, X-linked 21<span class="h1sub">(XLID21)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1790509</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:">C5551510</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 21; Mental retardation 21, X-linked; Mental retardation, X-linked 21/34; MENTAL RETARDATION, X-LINKED 34; XLID21</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="IL1RAPL1 - ID: 11141 - NCBI Gene" href="/gene/11141" class="medgenPMinfo">IL1RAPL1</a> (Xp21.3-21.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010256" target="_blank">MONDO:0010256</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/300143" target="_blank">300143</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>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1431" target="_blank">NR0B1-Related Adrenal Hypoplasia Congenita</a></div><div>NR0B1-related adrenal hypoplasia congenita includes both X-linked adrenal hypoplasia congenita (X-linked AHC) and Xp21 deletion (previously called complex glycerol kinase deficiency). X-linked AHC is characterized by primary adrenal insufficiency and/or hypogonadotropic hypogonadism (HH). Adrenal insufficiency is acute infantile onset (average age 3 weeks) in approximately 60% of affected males and childhood onset (ages 1-9 years) in approximately 40%. HH typically manifests in a male with adrenal insufficiency as delayed puberty (i.e., onset age >14 years) and less commonly as arrested puberty at about Tanner Stage 3. Rarely, X-linked AHC manifests initially in early adulthood as delayed-onset adrenal insufficiency, partial HH, and/or infertility. Heterozygous females very occasionally have manifestations of adrenal insufficiency or hypogonadotropic hypogonadism. Xp21 deletion includes deletion of NR0B1 (causing X-linked AHC) and GK (causing glycerol kinase deficiency), and in some cases deletion of DMD (causing Duchenne muscular dystrophy). Developmental delay has been reported in males with Xp21 deletion when the deletion extends proximally to include DMD or when larger deletions extend distally to include IL1RAPL1 and DMD. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1431#ahc.Summary" target="NBK1431">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1431#ahc.GeneReview_Scope" target="NBK1431">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1431#ahc.Diagnosis" target="NBK1431">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1431#ahc.Clinical_Characteristics" target="NBK1431">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1431#ahc.Genetically_Related_Disorders" target="NBK1431">Genetically Related Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1431#ahc.Differential_Diagnosis" target="NBK1431">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1431#ahc.Management" target="NBK1431">Management</a> | <a class="medgenPMinfo" href="/books/NBK1431#ahc.Genetic_Counseling" target="NBK1431">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1431#ahc.Resources" target="NBK1431">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1431#ahc.Molecular_Genetics" target="NBK1431">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1431#ahc.References" target="NBK1431">References</a> | <a class="medgenPMinfo" href="/books/NBK1431#ahc.Chapter_Notes" target="NBK1431">Chapter Notes</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
John C Achermann | Eric J Vilain <a href="/books/NBK1431" target="NBK1431" title="NCBI Bookshelf: NR0B1-Related Adrenal Hypoplasia Congenita">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />X-linked intellectual developmental disorder-21 (XLID21) is characterized by a spectrum of cognitive neurologic impairments or disabilities ranging from moderately impaired intellectual development to high-functioning autism. Males are typically severely affected, but some carrier females may manifest milder deficits (summary by Piton et al., 2008). <a target="_blank" href="http://www.omim.org/entry/300143">http://www.omim.org/entry/300143</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<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_224727"><div><strong>Macroorchidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>224727</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.">C1263023</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of abnormally large testes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/224727">Feature record</a> | <a href="/medgen?term=%22Macroorchidism%22%5BClinical%20Features%5D%20OR%20224727%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_344655"><div><strong>Uplifted earlobe</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344655</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.">C1856117</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344655">Feature record</a> | <a href="/medgen?term=%22Uplifted%20earlobe%22%5BClinical%20Features%5D%20OR%20344655%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>
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||
<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>
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<div class="divPopper rprt" id="clin_43850"><div><strong>Impulsivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43850</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.">C0021125</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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||
<div class="spaceAbove">Acting on the spur of the moment or on a momentary basis without consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in behavior that is uninhibited, cannot be inhibited, and is uncontrolled. The possibility of repression is inconceivable.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43850">Feature record</a> | <a href="/medgen?term=%22Impulsivity%22%5BClinical%20Features%5D%20OR%2043850%5Buid%5D">Search on this feature</a></div></div>
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||
<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>
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||
<div class="spaceAbove">Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.</div>
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||
<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_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>
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||
<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>
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||
<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_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>
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||
<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>
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||
<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_336793"><div><strong>Joint hypermobility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336793</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.">C1844820</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/336793">Feature record</a> | <a href="/medgen?term=%22Joint%20hypermobility%22%5BClinical%20Features%5D%20OR%20336793%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99115"><div><strong>Hypernasal speech</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99115</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.">C0454555</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/99115">Feature record</a> | <a href="/medgen?term=%22Hypernasal%20speech%22%5BClinical%20Features%5D%20OR%2099115%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11850"><div><strong>Dental crowding</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11850</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.">C0040433</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Changes in alignment of teeth in the dental arch</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/11850">Feature record</a> | <a href="/medgen?term=%22Dental%20crowding%22%5BClinical%20Features%5D%20OR%2011850%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116104"><div><strong>Open mouth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116104</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.">C0240379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A facial appearance characterized by a permanently or nearly permanently opened mouth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116104">Feature record</a> | <a href="/medgen?term=%22Open%20mouth%22%5BClinical%20Features%5D%20OR%20116104%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98316"><div><strong>Mandibular prognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98316</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.">C0399526</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Abnormal prominence of the chin related to increased length of the mandible.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/98316">Feature record</a> | <a href="/medgen?term=%22Mandibular%20prognathia%22%5BClinical%20Features%5D%20OR%2098316%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98390"><div><strong>Upslanted palpebral fissure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98390</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.">C0423109</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/98390">Feature record</a> | <a href="/medgen?term=%22Upslanted%20palpebral%20fissure%22%5BClinical%20Features%5D%20OR%2098390%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326574"><div><strong>Tented upper lip vermilion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326574</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.">C1839767</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326574">Feature record</a> | <a href="/medgen?term=%22Tented%20upper%20lip%20vermilion%22%5BClinical%20Features%5D%20OR%20326574%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343052"><div><strong>Short nose</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343052</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.">C1854114</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343052">Feature record</a> | <a href="/medgen?term=%22Short%20nose%22%5BClinical%20Features%5D%20OR%20343052%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98132"><div><strong>Synophrys</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98132</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.">C0431447</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Meeting of the medial eyebrows in the midline.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98132">Feature record</a> | <a href="/medgen?term=%22Synophrys%22%5BClinical%20Features%5D%20OR%2098132%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9373"><div><strong>Hypertelorism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9373</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.">C0020534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9373">Feature record</a> | <a href="/medgen?term=%22Hypertelorism%22%5BClinical%20Features%5D%20OR%209373%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_11850" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dental crowding</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98316" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mandibular prognathia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116104" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Open mouth</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343052" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short nose</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326574" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tented upper lip vermilion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98390" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Upslanted palpebral fissure</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_9373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertelorism</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 genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_224727" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macroorchidism</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_98132" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Synophrys</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_336793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joint hypermobility</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_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_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_43850" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impulsivity</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_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">Abnormality of the voice</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99115" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypernasal speech</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_344655" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Uplifted earlobe</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/33176815">Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin L,
|
||
Zhang Y,
|
||
Pan H,
|
||
Wang J,
|
||
Qi Y,
|
||
Ma Y</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2020 Nov 11;15(1):317.
|
||
doi: 10.1186/s13023-020-01599-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33176815" target="_blank">33176815</a><a href="/pmc/articles/PMC7656751" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32070051">Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Avanzo F,
|
||
Rigon L,
|
||
Zanetti A,
|
||
Tomanin R</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2020 Feb 13;21(4)
|
||
doi: 10.3390/ijms21041258.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32070051" target="_blank">32070051</a><a href="/pmc/articles/PMC7072947" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9686376">X-linked adrenoleukodystrophy: improved prenatal diagnosis using both biochemical and immunological methods.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wanders RJ,
|
||
Mooyer PW,
|
||
Dekker C,
|
||
Vreken P</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1998 Jun;21(3):285-7.
|
||
doi: 10.1023/a:1005336726127.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9686376" target="_blank">9686376</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(intellectual%20disability%2C%20x-linked%2021)%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 (13)</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/39283673">Musculoskeletal Issues in Children and Adolescents: Genetic Musculoskeletal Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Connor FG,
|
||
Leggit JC</span><br />
|
||
<span class="medgenPMjournal">FP Essent</span>
|
||
2024 Sep;544:12-19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39283673" target="_blank">39283673</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35245789">Restless Legs Syndrome in X-linked adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Winkelman JW,
|
||
Grant NR,
|
||
Molay F,
|
||
Stephen CD,
|
||
Sadjadi R,
|
||
Eichler FS</span><br />
|
||
<span class="medgenPMjournal">Sleep Med</span>
|
||
2022 Mar;91:31-34.
|
||
Epub 2022 Feb 16
|
||
doi: 10.1016/j.sleep.2022.02.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35245789" target="_blank">35245789</a><a href="/pmc/articles/PMC9035065" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28976817">Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eichler F,
|
||
Duncan C,
|
||
Musolino PL,
|
||
Orchard PJ,
|
||
De Oliveira S,
|
||
Thrasher AJ,
|
||
Armant M,
|
||
Dansereau C,
|
||
Lund TC,
|
||
Miller WP,
|
||
Raymond GV,
|
||
Sankar R,
|
||
Shah AJ,
|
||
Sevin C,
|
||
Gaspar HB,
|
||
Gissen P,
|
||
Amartino H,
|
||
Bratkovic D,
|
||
Smith NJC,
|
||
Paker AM,
|
||
Shamir E,
|
||
O'Meara T,
|
||
Davidson D,
|
||
Aubourg P,
|
||
Williams DA</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2017 Oct 26;377(17):1630-1638.
|
||
Epub 2017 Oct 4
|
||
doi: 10.1056/NEJMoa1700554.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28976817" target="_blank">28976817</a><a href="/pmc/articles/PMC5708849" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25644381">X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hu H,
|
||
Haas SA,
|
||
Chelly J,
|
||
Van Esch H,
|
||
Raynaud M,
|
||
de Brouwer AP,
|
||
Weinert S,
|
||
Froyen G,
|
||
Frints SG,
|
||
Laumonnier F,
|
||
Zemojtel T,
|
||
Love MI,
|
||
Richard H,
|
||
Emde AK,
|
||
Bienek M,
|
||
Jensen C,
|
||
Hambrock M,
|
||
Fischer U,
|
||
Langnick C,
|
||
Feldkamp M,
|
||
Wissink-Lindhout W,
|
||
Lebrun N,
|
||
Castelnau L,
|
||
Rucci J,
|
||
Montjean R,
|
||
Dorseuil O,
|
||
Billuart P,
|
||
Stuhlmann T,
|
||
Shaw M,
|
||
Corbett MA,
|
||
Gardner A,
|
||
Willis-Owen S,
|
||
Tan C,
|
||
Friend KL,
|
||
Belet S,
|
||
van Roozendaal KE,
|
||
Jimenez-Pocquet M,
|
||
Moizard MP,
|
||
Ronce N,
|
||
Sun R,
|
||
O'Keeffe S,
|
||
Chenna R,
|
||
van Bömmel A,
|
||
Göke J,
|
||
Hackett A,
|
||
Field M,
|
||
Christie L,
|
||
Boyle J,
|
||
Haan E,
|
||
Nelson J,
|
||
Turner G,
|
||
Baynam G,
|
||
Gillessen-Kaesbach G,
|
||
Müller U,
|
||
Steinberger D,
|
||
Budny B,
|
||
Badura-Stronka M,
|
||
Latos-Bieleńska A,
|
||
Ousager LB,
|
||
Wieacker P,
|
||
Rodríguez Criado G,
|
||
Bondeson ML,
|
||
Annerén G,
|
||
Dufke A,
|
||
Cohen M,
|
||
Van Maldergem L,
|
||
Vincent-Delorme C,
|
||
Echenne B,
|
||
Simon-Bouy B,
|
||
Kleefstra T,
|
||
Willemsen M,
|
||
Fryns JP,
|
||
Devriendt K,
|
||
Ullmann R,
|
||
Vingron M,
|
||
Wrogemann K,
|
||
Wienker TF,
|
||
Tzschach A,
|
||
van Bokhoven H,
|
||
Gecz J,
|
||
Jentsch TJ,
|
||
Chen W,
|
||
Ropers HH,
|
||
Kalscheuer VM</span><br />
|
||
<span class="medgenPMjournal">Mol Psychiatry</span>
|
||
2016 Jan;21(1):133-48.
|
||
Epub 2015 Feb 3
|
||
doi: 10.1038/mp.2014.193.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25644381" target="_blank">25644381</a><a href="/pmc/articles/PMC5414091" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22361452">Congenital abnormalities in Japanese patients with Menkes disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gu YH,
|
||
Kodama H,
|
||
Kato T</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
2012 Oct;34(9):746-9.
|
||
Epub 2012 Feb 22
|
||
doi: 10.1016/j.braindev.2012.01.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22361452" target="_blank">22361452</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20X-linked%2021%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 (77)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36300573">X-Linked intellectual disability update 2022.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schwartz CE,
|
||
Louie RJ,
|
||
Toutain A,
|
||
Skinner C,
|
||
Friez MJ,
|
||
Stevenson RE</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2023 Jan;191(1):144-159.
|
||
Epub 2022 Oct 27
|
||
doi: 10.1002/ajmg.a.63008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36300573" target="_blank">36300573</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34058389">In vivo gene editing via homology-independent targeted integration for adrenoleukodystrophy treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hong SA,
|
||
Seo JH,
|
||
Wi S,
|
||
Jung ES,
|
||
Yu J,
|
||
Hwang GH,
|
||
Yu JH,
|
||
Baek A,
|
||
Park S,
|
||
Bae S,
|
||
Cho SR</span><br />
|
||
<span class="medgenPMjournal">Mol Ther</span>
|
||
2022 Jan 5;30(1):119-129.
|
||
Epub 2021 May 29
|
||
doi: 10.1016/j.ymthe.2021.05.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34058389" target="_blank">34058389</a><a href="/pmc/articles/PMC8753287" 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/32070051">Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Avanzo F,
|
||
Rigon L,
|
||
Zanetti A,
|
||
Tomanin R</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2020 Feb 13;21(4)
|
||
doi: 10.3390/ijms21041258.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32070051" target="_blank">32070051</a><a href="/pmc/articles/PMC7072947" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23033978">Diagnostic exome sequencing in persons with severe intellectual disability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Ligt J,
|
||
Willemsen MH,
|
||
van Bon BW,
|
||
Kleefstra T,
|
||
Yntema HG,
|
||
Kroes T,
|
||
Vulto-van Silfhout AT,
|
||
Koolen DA,
|
||
de Vries P,
|
||
Gilissen C,
|
||
del Rosario M,
|
||
Hoischen A,
|
||
Scheffer H,
|
||
de Vries BB,
|
||
Brunner HG,
|
||
Veltman JA,
|
||
Vissers LE</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2012 Nov 15;367(20):1921-9.
|
||
Epub 2012 Oct 3
|
||
doi: 10.1056/NEJMoa1206524.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23033978" target="_blank">23033978</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20X-linked%2021%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 (129)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39283673">Musculoskeletal Issues in Children and Adolescents: Genetic Musculoskeletal Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Connor FG,
|
||
Leggit JC</span><br />
|
||
<span class="medgenPMjournal">FP Essent</span>
|
||
2024 Sep;544:12-19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39283673" target="_blank">39283673</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38796705">In vivo adenine base editing rescues adrenoleukodystrophy in a humanized mouse model.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gopalappa R,
|
||
Lee M,
|
||
Kim G,
|
||
Jung ES,
|
||
Lee H,
|
||
Hwang HY,
|
||
Lee JG,
|
||
Kim SJ,
|
||
Yoo HJ,
|
||
Sung YH,
|
||
Kim D,
|
||
Baek IJ,
|
||
Kim HH</span><br />
|
||
<span class="medgenPMjournal">Mol Ther</span>
|
||
2024 Jul 3;32(7):2190-2206.
|
||
Epub 2024 May 24
|
||
doi: 10.1016/j.ymthe.2024.05.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38796705" target="_blank">38796705</a><a href="/pmc/articles/PMC11286820" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28976817">Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eichler F,
|
||
Duncan C,
|
||
Musolino PL,
|
||
Orchard PJ,
|
||
De Oliveira S,
|
||
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Kleefstra T,
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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="nl"><a target="_blank" href="/pubmed/28976817">Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.</a></div>
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Lund TC,
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Miller WP,
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Raymond GV,
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Sankar R,
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||
Shah AJ,
|
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Sevin C,
|
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Gaspar HB,
|
||
Gissen P,
|
||
Amartino H,
|
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Bratkovic D,
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||
Smith NJC,
|
||
Paker AM,
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Shamir E,
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O'Meara T,
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Davidson D,
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Aubourg P,
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Williams DA</span><br />
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<span class="medgenPMjournal">N Engl J Med</span>
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2017 Oct 26;377(17):1630-1638.
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Epub 2017 Oct 4
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||
doi: 10.1056/NEJMoa1700554.
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||
<span class="bold">PMID: </span><a href="/pubmed/28976817" target="_blank">28976817</a><a href="/pmc/articles/PMC5708849" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/23033978">Diagnostic exome sequencing in persons with severe intellectual disability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Ligt J,
|
||
Willemsen MH,
|
||
van Bon BW,
|
||
Kleefstra T,
|
||
Yntema HG,
|
||
Kroes T,
|
||
Vulto-van Silfhout AT,
|
||
Koolen DA,
|
||
de Vries P,
|
||
Gilissen C,
|
||
del Rosario M,
|
||
Hoischen A,
|
||
Scheffer H,
|
||
de Vries BB,
|
||
Brunner HG,
|
||
Veltman JA,
|
||
Vissers LE</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2012 Nov 15;367(20):1921-9.
|
||
Epub 2012 Oct 3
|
||
doi: 10.1056/NEJMoa1206524.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23033978" target="_blank">23033978</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20X-linked%2021%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 (87)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5551510%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (20)</a></li>
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<li><a href="/gtr/tests?term=C5551510%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (2)</a></li>
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<li><a href="/gtr/tests?term=C5551510%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (18)</a></li>
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<li><a href="/gtr/tests?term=C5551510%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=300206" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=11141[geneid]" target="_blank">View IL1RAPL1 variations in ClinVar</a></li><li><a href="/nuccore/194440674" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=300143" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/X-linked+mental+retardation+21/9497" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/intellectual_developmental_disorder_x_linked_21" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Intellectual%20disability,%20X-linked%2021" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/22669/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed?term=Intellectual%20disability,%20X-linked%2021%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=1790509" ref="log$=recordlinks">PubMed (OMIM)</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb54c8b15b832ebc139d73">Intellectual disability, X-linked 21</a>
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