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<meta name="keywords" content="C0006009, borderline intellectual development disorder, borderline intellectual disability, borderline intellectual functioning, borderline learning disability, borderline mental retardation, borderline mental retardation (i.q. 70-85), borderline mental retardation (intelligence quotient 70-85), finding, intellectual disability, borderline, mental or behavioral dysfunction, mental retardation, borderline, 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="Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=507499
|
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ConceptID=C0006009
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Intellectual disability, borderline</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>507499</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:">C0006009</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding; Mental or Behavioral Dysfunction</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Borderline intellectual functioning</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Borderline mental retardation (I.Q. 70-85) (77287004); Borderline intellectual functioning (77287004); Borderline mental retardation (Intelligence Quotient 70-85) (77287004); Borderline intellectual disability (77287004); Borderline intellectual development disorder (77287004); Borderline learning disability (77287004); Borderline mental retardation (77287004)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0006889">HP:0006889</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 mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Intellectual disability, borderline</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/520" ref="tree=MeSH" title="MedGen record for Behavior disorder">Behavior disorder</a></span><ul><li><span class="TLline"><a href="/medgen/811461" ref="tree=MeSH" title="MedGen record for Intellectual disability">Intellectual disability</a></span><ul><li><span class="matched_ds">Intellectual disability, borderline</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_341515"><div><strong>Prolactin deficiency with obesity and enlarged testes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341515</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.">C1849698</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341515">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347880"><div><strong>Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347880</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.">C1859432</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347880">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_400954"><div><strong>Colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400954</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.">C1866256</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome is a rare, genetic, syndromic microphthalmia disorder characterized by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypogenitalism and, more variably, nystagmus, cataracts and developmental delay.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400954">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_413028"><div><strong>Noonan syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413028</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.">C2750732</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/413028">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482045"><div><strong>Cognitive impairment with or without cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482045</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.">C3280415</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SCN8A-related epilepsy and/or neurodevelopmental disorders encompasses a spectrum of phenotypes. Epilepsy phenotypes include developmental and epileptic encephalopathy (DEE) associated with severe developmental delays and usually pharmacoresistant epilepsy with multiple seizure types; mild-to-moderate developmental and epileptic encephalopathy (mild/modDEE, or intermediate epilepsy) with partially treatable epilepsy; self-limited familial infantile epilepsy (SeLFIE, also known as benign familial infantile epilepsy or BFIE) with normal cognition and medically treatable seizures; neurodevelopmental delays with generalized epilepsy (NDDwGE); and neurodevelopmental disorder without epilepsy (NDDwoE) with mild-to-moderate intellectual disability (though it can be severe in ~10% of affected individuals). Hypotonia and movement disorders including dystonia, ataxia, and choreoathetosis are common in some phenotypes. Sudden unexpected death in epilepsy (SUDEP) has been reported in some affected individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482045">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767287"><div><strong>Intellectual developmental disorder with autism and macrocephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767287</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.">C3554373</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CHD8-related neurodevelopmental disorder with overgrowth (CHD8-NDD) is characterized by generalized overgrowth, developmental delay / intellectual disability (DD/ID), autism spectrum disorder (ASD), neuropsychiatric issues, neurologic problems, sleep disturbance, and gastrointestinal issues The most common findings are the development of macrocephaly (most often during infancy) and tall stature (most typically during puberty), which is often accompanied by ASD and/or DD/ID. Most, if not all, affected individuals have some degree of DD, most commonly speech and motor delays. When present, ID is most often in the mild-to-moderate range. Sleep disturbance is characterized by difficulty with both initiation (delayed sleep onset) and maintenance (frequent night awakenings) of sleep. The most common gastrointestinal issue is constipation with or without periods of diarrhea. Less common features are hypotonia (about 30% of affected individuals), seizures (10%-15%), dystonia (rare), and Chiari I malformation (rare).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767287">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854762"><div><strong>Autosomal recessive congenital ichthyosis 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854762</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.">C3888093</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010). NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006). In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). For a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854762">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863621"><div><strong>Limb-girdle muscular dystrophy due to POMK deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863621</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.">C4015184</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness and borderline intelligence.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863621">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934674"><div><strong>Bardet-Biedl syndrome 20</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934674</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.">C4310707</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bardet-Biedl syndrome-20 (BBS20), a rare autosomal recessive disorder associated with ciliary dysfunction, is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females (Saida et al., 2014). For a general phenotypic description and discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934674">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1644614"><div><strong>Epilepsy, familial focal, with variable foci 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644614</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.">C4693694</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SCN3A-related neurodevelopmental disorder (SCN3A-ND) encompasses a spectrum of clinical severity associated with epilepsy and/or brain malformation. Affected individuals may have (a) developmental and epileptic encephalopathy (DEE) (i.e., intractable seizures with developmental delays associated with ongoing epileptiform EEG activity) with or without malformations of cortical development; or (b) malformations of cortical development with or without mild focal epilepsy. Some degree of early childhood developmental delay is seen in all affected individuals; the severity varies widely, ranging from isolated speech delay to severe developmental delay. Infantile hypotonia is common but may be mild or absent in those without DEE. In those with DEE, seizure onset is typically in the first six to 12 months of life. A variety of seizure types have been described. Seizures remain intractable to multiple anti-seizure medications in approximately 50% of individuals with DEE without malformations of cortical development (MCD) and in 90% of individuals with DEE and MCD. Seizures may be absent or infrequent in those without DEE. Brain MRI findings range from normal to showing thinning or hypoplasia of the corpus callosum, to various malformations of cortical development. Autonomic dysregulation, oromotor dysfunction leading to the need for gastrostomy tube placement, progressive microcephaly, hyperkinetic movement disorder, and cortical visual impairment can also be seen in those with DEE.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644614">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1787833"><div><strong>Leukodystrophy, hypomyelinating, 22</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1787833</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.">C5543406</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypomyelinating leukodystrophy-22 (HLD22) is a neurologic disorder characterized by global developmental delay with mildly impaired intellectual development and marked motor impairment with limited or no ability to walk and dysarthria. Affected individuals have limb spasticity with pyramidal signs, as well as nystagmus, hypermetropia, and astigmatism. Brain imaging shows hypomyelination and a delay in myelination, although serial imaging shows some progress in both the central and peripheral white matter regions (Riedhammer et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1787833">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1807523"><div><strong>Intellectual developmental disorder with or without peripheral neuropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1807523</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.">C5676969</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual developmental disorder with or without peripheral neuropathy (IDDPN) is an autosomal recessive neurologic disorder characterized by global developmental delay with mildly impaired intellectual development apparent from infancy or early childhood. Affected individuals have hypotonia and delayed walking with an unsteady gait and frequent falls. Some patients develop a progressive length-dependent sensorimotor peripheral neuropathy. Additional features may include dysarthria and subtle dysmorphic facial features (Diaz et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1807523">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1862745"><div><strong>Immunodeficiency 120</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1862745</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.">C5935622</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-120 (IMD120) is an autosomal recessive combined immunodeficiency characterized by the onset of recurrent upper and lower respiratory tract infections in early childhood. Affected individuals may also develop persistent viral infections, particularly of the herpes family. Laboratory studies show lymphopenia with decreased CD4+ and CD8+ T cells and mildly decreased B cells, usually with hypogammaglobulinemia. Some patients may have additional systemic features, including hearing loss, speech delay, short stature, and mildly impaired intellectual development (Conde et al., 2019; et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1862745">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854762" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive congenital ichthyosis 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934674" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bardet-Biedl syndrome 20</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347880" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482045" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cognitive impairment with or without cerebellar ataxia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400954" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (13)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1644614" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epilepsy, familial focal, with variable foci 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1862745" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 120</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767287" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder with autism and macrocephaly</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1807523" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder with or without peripheral neuropathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1787833" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukodystrophy, hypomyelinating, 22</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863621" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Limb-girdle muscular dystrophy due to POMK deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413028" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341515" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prolactin deficiency with obesity and enlarged testes</a></div></span></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/38608010">Clozapine Treatment for Aggressive Behaviors in Youths with Neurodevelopmental Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berloffa S,
|
||
Masi G,
|
||
Falcone F,
|
||
Simonelli V,
|
||
Narzisi A,
|
||
Valente E,
|
||
Viglione V,
|
||
Milone A,
|
||
Sesso G</span><br />
|
||
<span class="medgenPMjournal">J Child Adolesc Psychopharmacol</span>
|
||
2024 Apr;34(3):148-156.
|
||
doi: 10.1089/cap.2023.0097.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38608010" target="_blank">38608010</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22intellectual%20disability%2C%20borderline%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35421380">Mental health problems in children with intellectual disability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Totsika V,
|
||
Liew A,
|
||
Absoud M,
|
||
Adnams C,
|
||
Emerson E</span><br />
|
||
<span class="medgenPMjournal">Lancet Child Adolesc Health</span>
|
||
2022 Jun;6(6):432-444.
|
||
Epub 2022 Apr 11
|
||
doi: 10.1016/S2352-4642(22)00067-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35421380" target="_blank">35421380</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31033253">Cognition in adults with Williams syndrome-A 20-year follow-up study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sauna-Aho O,
|
||
Bjelogrlic-Laakso N,
|
||
Sirén A,
|
||
Kangasmäki V,
|
||
Arvio M</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2019 Jun;7(6):e695.
|
||
Epub 2019 Apr 29
|
||
doi: 10.1002/mgg3.695.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31033253" target="_blank">31033253</a><a href="/pmc/articles/PMC6565587" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29701730">Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2014.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baio J,
|
||
Wiggins L,
|
||
Christensen DL,
|
||
Maenner MJ,
|
||
Daniels J,
|
||
Warren Z,
|
||
Kurzius-Spencer M,
|
||
Zahorodny W,
|
||
Robinson Rosenberg C,
|
||
White T,
|
||
Durkin MS,
|
||
Imm P,
|
||
Nikolaou L,
|
||
Yeargin-Allsopp M,
|
||
Lee LC,
|
||
Harrington R,
|
||
Lopez M,
|
||
Fitzgerald RT,
|
||
Hewitt A,
|
||
Pettygrove S,
|
||
Constantino JN,
|
||
Vehorn A,
|
||
Shenouda J,
|
||
Hall-Lande J,
|
||
Van Naarden Braun K,
|
||
Dowling NF</span><br />
|
||
<span class="medgenPMjournal">MMWR Surveill Summ</span>
|
||
2018 Apr 27;67(6):1-23.
|
||
doi: 10.15585/mmwr.ss6706a1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29701730" target="_blank">29701730</a><a href="/pmc/articles/PMC5919599" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
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<div class="portlet_content ln"><span class="medgenPMauthor">David O,
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Jelsig AM,
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Vineke SH,
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Isidor B,
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Mercier S,
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Magnussen K,
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Zacher P,
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Hashim M,
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Pagnamenta AT,
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Race S,
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Srivastava S,
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Frazier Z,
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Maiwald R,
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Pergande M,
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Milani D,
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Rinelli M,
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Levy J,
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Krey I,
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Fontana P,
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Lonardo F,
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Riley S,
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Kretzer J,
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Rankin J,
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Reis LM,
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Semina EV,
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Reuter MS,
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Scherer SW,
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Iascone M,
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Weis D,
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Fagerberg CR,
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Brasch-Andersen C,
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Hansen LK,
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Kuechler A,
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Noble N,
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Gardham A,
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Tenney J,
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Rathore G,
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Beck-Woedl S,
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Haack TB,
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Pavlidou DC,
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Atallah I,
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Vodopiutz J,
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Janecke AR,
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Hsieh TC,
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Lesmann H,
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Klinkhammer H,
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Krawitz PM,
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Lemke JR,
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Jamra RA,
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Nieto M,
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Tümer Z,
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Platzer K</span><br />
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Epub 2023 Aug 30
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<span class="bold">PMID: </span><a href="/pubmed/37644171" target="_blank">37644171</a><a href="/pmc/articles/PMC10620399" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36307217">Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Barba C,
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Kang HC,
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Grisotto L,
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Chipaux M,
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Bien CG,
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Heřmanovská B,
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Porter BE,
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Lidov HGW,
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Cetica V,
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Woermann FG,
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Lopez-Rivera JA,
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Canoll PD,
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Mader I,
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D'Incerti L,
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Baldassari S,
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Yang E,
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Gaballa A,
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Vogel H,
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Straka B,
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Macconi L,
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Polster T,
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Grant GA,
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Krsková L,
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Shin HJ,
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Ko A,
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Crino PB,
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Krsek P,
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Lee JH,
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Lal D,
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Baulac S,
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Guerrini R;
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2023 Jan 31;100(5):e528-e542.
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Epub 2022 Oct 28
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<span class="bold">PMID: </span><a href="/pubmed/36307217" target="_blank">36307217</a><a href="/pmc/articles/PMC9931085" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32977897">Borderline intellectual functioning.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fernell E,
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<span class="bold">PMID: </span><a href="/pubmed/32977897" target="_blank">32977897</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/63849">Low lead levels and mental retardation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">David O,
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Hoffman S,
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McGann B,
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Sverd J,
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Clark J</span><br />
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<span class="medgenPMjournal">Lancet</span>
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1976 Dec 25;2(8000):1376-9.
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doi: 10.1016/s0140-6736(76)91918-8.
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<span class="bold">PMID: </span><a href="/pubmed/63849" target="_blank">63849</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20borderline%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 (399)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38608010">Clozapine Treatment for Aggressive Behaviors in Youths with Neurodevelopmental Disorders.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Berloffa S,
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Masi G,
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Narzisi A,
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<span class="bold">PMID: </span><a href="/pubmed/38608010" target="_blank">38608010</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35297524">Bone health, intellectual disability and epilepsy: An observational community-based study.</a></div>
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Sawhney I,
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Jory C,
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<div class="nl"><a target="_blank" href="/pubmed/23475012">The effect of handedness on grip strength in older adults with intellectual disabilities.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/23475012" target="_blank">23475012</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/21856116">Efficacy of atypical antipsychotic medication in the management of behaviour problems in children with intellectual disabilities and borderline intelligence: a systematic review.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/5104016">The efficacy of dietary therapy for phenylketonuria.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hanley WB,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20borderline%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (104)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38872099">Developmental associations between cognition and adaptive behavior in intellectual and developmental disability.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dakopolos A,
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<span class="bold">PMID: </span><a href="/pubmed/38872099" target="_blank">38872099</a><a href="/pmc/articles/PMC11177479" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37644171">CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Oppermann H,
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Marcos-Grañeda E,
|
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Weiss LA,
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Gurnett CA,
|
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Jelsig AM,
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Vineke SH,
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Isidor B,
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Mercier S,
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Magnussen K,
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Zacher P,
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Hashim M,
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Pagnamenta AT,
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Race S,
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Srivastava S,
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Frazier Z,
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Maiwald R,
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Pergande M,
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Milani D,
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Rinelli M,
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Levy J,
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Krey I,
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Fontana P,
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Lonardo F,
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Riley S,
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Kretzer J,
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Rankin J,
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Reis LM,
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Semina EV,
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Reuter MS,
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Scherer SW,
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Iascone M,
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Weis D,
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Fagerberg CR,
|
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Brasch-Andersen C,
|
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Hansen LK,
|
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Kuechler A,
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Noble N,
|
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Gardham A,
|
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Tenney J,
|
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Rathore G,
|
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Beck-Woedl S,
|
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Haack TB,
|
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Pavlidou DC,
|
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Atallah I,
|
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Vodopiutz J,
|
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Janecke AR,
|
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Hsieh TC,
|
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Lesmann H,
|
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Klinkhammer H,
|
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Krawitz PM,
|
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Lemke JR,
|
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Jamra RA,
|
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Nieto M,
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Tümer Z,
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Platzer K</span><br />
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<span class="medgenPMjournal">Eur J Hum Genet</span>
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2023 Nov;31(11):1251-1260.
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Epub 2023 Aug 30
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doi: 10.1038/s41431-023-01445-2.
|
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<span class="bold">PMID: </span><a href="/pubmed/37644171" target="_blank">37644171</a><a href="/pmc/articles/PMC10620399" 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/36307217">Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Barba C,
|
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Blumcke I,
|
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Winawer MR,
|
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Hartlieb T,
|
||
Kang HC,
|
||
Grisotto L,
|
||
Chipaux M,
|
||
Bien CG,
|
||
Heřmanovská B,
|
||
Porter BE,
|
||
Lidov HGW,
|
||
Cetica V,
|
||
Woermann FG,
|
||
Lopez-Rivera JA,
|
||
Canoll PD,
|
||
Mader I,
|
||
D'Incerti L,
|
||
Baldassari S,
|
||
Yang E,
|
||
Gaballa A,
|
||
Vogel H,
|
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Straka B,
|
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Macconi L,
|
||
Polster T,
|
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Grant GA,
|
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Krsková L,
|
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Shin HJ,
|
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Ko A,
|
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Crino PB,
|
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Krsek P,
|
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Lee JH,
|
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Lal D,
|
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Baulac S,
|
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Poduri A,
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Guerrini R;
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SLC35A2 Study Group</span><br />
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<span class="medgenPMjournal">Neurology</span>
|
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2023 Jan 31;100(5):e528-e542.
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Epub 2022 Oct 28
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doi: 10.1212/WNL.0000000000201471.
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<span class="bold">PMID: </span><a href="/pubmed/36307217" target="_blank">36307217</a><a href="/pmc/articles/PMC9931085" 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/35395208">Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Stephenson SEM,
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Costain G,
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Blok LER,
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Silk MA,
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Nguyen TB,
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Dong X,
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Alhuzaimi DE,
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Dowling JJ,
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Walker S,
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Amburgey K,
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Hayeems RZ,
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Rodan LH,
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Schwartz MA,
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Lynch SA,
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Gupta A,
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Schimmenti LA,
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Klee EW,
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Revah-Politi A,
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Au PYB,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20borderline%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 (160)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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Lim SC,
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<span class="bold">PMID: </span><a href="/pubmed/35395208" target="_blank">35395208</a><a href="/pmc/articles/PMC9069070" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30679813">De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29701730">Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2014.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/29701730" target="_blank">29701730</a><a href="/pmc/articles/PMC5919599" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20borderline%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 (314)</a></div></div>
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||
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|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38818797">Natural history of adults with KBG syndrome: A physician-reported experience.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bayat A,
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Grimes H,
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de Boer E,
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Herlin MK,
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Dahl RS,
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Lund ICB,
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Bayat M,
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Bolund ACS,
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Gjerulfsen CE,
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Gregersen PA,
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Zilmer M,
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Juhl S,
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Cebula K,
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Rahikkala E,
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Maystadt I,
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Peron A,
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Vignoli A,
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Alfano RM,
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Stanzial F,
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Benedicenti F,
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Currò A,
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Luk HM,
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Jouret G,
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Zurita E,
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Heuft L,
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Schnabel F,
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Busche A,
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Veenstra-Knol HE,
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Tkemaladze T,
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Vrielynck P,
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Lederer D,
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Platzer K,
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Ockeloen CW,
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Goel H,
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Low KJ</span><br />
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<span class="medgenPMjournal">Genet Med</span>
|
||
2024 Aug;26(8):101170.
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||
Epub 2024 May 27
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||
doi: 10.1016/j.gim.2024.101170.
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||
<span class="bold">PMID: </span><a href="/pubmed/38818797" target="_blank">38818797</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31330514">A Systematic Review of Substance Use (Disorder) in Individuals with Mild to Borderline Intellectual Disability.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">van Duijvenbode N,
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VanDerNagel JEL</span><br />
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<span class="medgenPMjournal">Eur Addict Res</span>
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2019;25(6):263-282.
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Epub 2019 Jul 22
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doi: 10.1159/000501679.
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<span class="bold">PMID: </span><a href="/pubmed/31330514" target="_blank">31330514</a><a href="/pmc/articles/PMC6888885" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/25409130">Borderline intellectual functioning: a systematic literature review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Peltopuro M,
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Ahonen T,
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Kaartinen J,
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<span class="medgenPMjournal">Intellect Dev Disabil</span>
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2014 Dec;52(6):419-43.
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<span class="bold">PMID: </span><a href="/pubmed/25409130" target="_blank">25409130</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/21856116">Efficacy of atypical antipsychotic medication in the management of behaviour problems in children with intellectual disabilities and borderline intelligence: a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Unwin GL,
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Deb S</span><br />
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<span class="medgenPMjournal">Res Dev Disabil</span>
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2011 Nov-Dec;32(6):2121-33.
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<span class="bold">PMID: </span><a href="/pubmed/21856116" target="_blank">21856116</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/15523501">Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">van Karnebeek CD,
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Jansweijer MC,
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Leenders AG,
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Offringa M,
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2005 Jan;13(1):6-25.
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<span class="bold">PMID: </span><a href="/pubmed/15523501" target="_blank">15523501</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20borderline%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (13)</a></div></div>
|
||
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|
||
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|
||
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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