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<meta name="keywords" content="C5231452, disease or syndrome, intellectual developmental disorder, autosomal recessive 72, mental retardation, autosomal recessive 72, mettl5, mrt72, 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="Autosomal recessive intellectual developmental disorder-72 (MRT72) is characterized by moderately to severely impaired intellectual development, microcephaly, and facial dysmorphism. Some patients may have seizures (Hu et al., 2019)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1684805
|
||
ConceptID=C5231452
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Intellectual developmental disorder, autosomal recessive 72<span class="h1sub">(MRT72)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684805</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:">C5231452</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>MENTAL RETARDATION, AUTOSOMAL RECESSIVE 72</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="METTL5 - ID: 29081 - NCBI Gene" href="/gene/29081" class="medgenPMinfo">METTL5</a> (2q31.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0032860" target="_blank">MONDO:0032860</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/618665" target="_blank">618665</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_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Autosomal recessive intellectual developmental disorder-72 (MRT72) is characterized by moderately to severely impaired intellectual development, microcephaly, and facial dysmorphism. Some patients may have seizures (Hu et al., 2019). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_91034"><div><strong>Atrial septal defect, ostium secundum type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91034</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.">C0344724</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/91034">Feature record</a> | <a href="/medgen?term=%22Atrial%20septal%20defect%2C%20ostium%20secundum%20type%22%5BClinical%20Features%5D%20OR%2091034%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1806755"><div><strong>Decreased body weight</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1806755</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.">C5574742</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally low body weight.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1806755">Feature record</a> | <a href="/medgen?term=%22Decreased%20body%20weight%22%5BClinical%20Features%5D%20OR%201806755%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_488785"><div><strong>Macrotia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488785</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0152421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488785">Feature record</a> | <a href="/medgen?term=%22Macrotia%22%5BClinical%20Features%5D%20OR%20488785%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65980"><div><strong>Low-set ears</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65980</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.">C0239234</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65980">Feature record</a> | <a href="/medgen?term=%22Low-set%20ears%22%5BClinical%20Features%5D%20OR%2065980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96566"><div><strong>Posteriorly rotated ears</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96566</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.">C0431478</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96566">Feature record</a> | <a href="/medgen?term=%22Posteriorly%20rotated%20ears%22%5BClinical%20Features%5D%20OR%2096566%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1375"><div><strong>Aggressive behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1375</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0001807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Individual Behavior</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Aggressive%20behavior%22%5BClinical%20Features%5D%20OR%201375%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7753"><div><strong>Spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7753</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026838</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7753">Feature record</a> | <a href="/medgen?term=%22Spasticity%22%5BClinical%20Features%5D%20OR%207753%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_48638"><div><strong>Intellectual disability, severe</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48638</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.">C0036857</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/48638">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20severe%22%5BClinical%20Features%5D%20OR%2048638%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163547"><div><strong>Autistic behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163547</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0856975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163547">Feature record</a> | <a href="/medgen?term=%22Autistic%20behavior%22%5BClinical%20Features%5D%20OR%20163547%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_220387"><div><strong>Attention deficit hyperactivity disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220387</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.">C1263846</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220387">Feature record</a> | <a href="/medgen?term=%22Attention%20deficit%20hyperactivity%20disorder%22%5BClinical%20Features%5D%20OR%20220387%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_346841"><div><strong>Generalized hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346841</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.">C1858120</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Generalized muscular hypotonia (abnormally low muscle tone).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346841">Feature record</a> | <a href="/medgen?term=%22Generalized%20hypotonia%22%5BClinical%20Features%5D%20OR%20346841%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</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.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98423"><div><strong>Prominent nose</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98423</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.">C0426415</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98423">Feature record</a> | <a href="/medgen?term=%22Prominent%20nose%22%5BClinical%20Features%5D%20OR%2098423%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98424"><div><strong>Broad nasal tip</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98424</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.">C0426429</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increase in width of the nasal tip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98424">Feature record</a> | <a href="/medgen?term=%22Broad%20nasal%20tip%22%5BClinical%20Features%5D%20OR%2098424%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_604869"><div><strong>Overhanging nasal tip</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>604869</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.">C0426430</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Positioning of the nasal tip inferior to the nasal base.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/604869">Feature record</a> | <a href="/medgen?term=%22Overhanging%20nasal%20tip%22%5BClinical%20Features%5D%20OR%20604869%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_341506"><div><strong>Wide nasal base</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341506</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.">C1849667</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased distance between the attachments of the alae nasi to the face.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341506">Feature record</a> | <a href="/medgen?term=%22Wide%20nasal%20base%22%5BClinical%20Features%5D%20OR%20341506%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_351278"><div><strong>Long philtrum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351278</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.">C1865014</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/351278">Feature record</a> | <a href="/medgen?term=%22Long%20philtrum%22%5BClinical%20Features%5D%20OR%20351278%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_355352"><div><strong>Thin upper lip vermilion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355352</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.">C1865017</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355352">Feature record</a> | <a href="/medgen?term=%22Thin%20upper%20lip%20vermilion%22%5BClinical%20Features%5D%20OR%20355352%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_866473"><div><strong>Wide nasal ridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866473</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.">C4020718</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased width of the nasal ridge.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/866473">Feature record</a> | <a href="/medgen?term=%22Wide%20nasal%20ridge%22%5BClinical%20Features%5D%20OR%20866473%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868323"><div><strong>Narrow nasal base</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868323</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.">C4022717</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased distance between the attachments of the alae nasi to the face.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868323">Feature record</a> | <a href="/medgen?term=%22Narrow%20nasal%20base%22%5BClinical%20Features%5D%20OR%20868323%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_98424" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Broad nasal tip</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_351278" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Long philtrum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868323" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Narrow nasal base</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_604869" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Overhanging nasal tip</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98423" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prominent nose</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_355352" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thin upper lip vermilion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341506" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wide nasal base</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_866473" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wide nasal ridge</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_91034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrial septal defect, ostium secundum type</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_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 musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_346841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1375" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aggressive behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_220387" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Attention deficit hyperactivity disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163547" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autistic behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_48638" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, severe</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spasticity</a></span></li></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_65980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Low-set ears</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_488785" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrotia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96566" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Posteriorly rotated ears</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1806755" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased body weight</a></span></li></ul></li></ul></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/31741144">Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mutlu-Albayrak H,
|
||
Kırat E,
|
||
Gürbüz G</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2020 Jan;21(1):59-66.
|
||
Epub 2019 Nov 19
|
||
doi: 10.1007/s10048-019-00597-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31741144" target="_blank">31741144</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17718851">Genetics of autosomal recessive non-syndromic mental retardation: recent advances.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Basel-Vanagaite L</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2007 Sep;72(3):167-74.
|
||
doi: 10.1111/j.1399-0004.2007.00881.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17718851" target="_blank">17718851</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14598338">Chromosome instability induced in vitro with mitomycin C in five Seckel syndrome patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bobabilla-Morales L,
|
||
Corona-Rivera A,
|
||
Corona-Rivera JR,
|
||
Buenrostro C,
|
||
García-Cobián TA,
|
||
Corona-Rivera E,
|
||
Cantú-Garza JM,
|
||
García-Cruz D</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2003 Dec 1;123A(2):148-52.
|
||
doi: 10.1002/ajmg.a.20341.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14598338" target="_blank">14598338</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12730828">Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kolehmainen J,
|
||
Black GC,
|
||
Saarinen A,
|
||
Chandler K,
|
||
Clayton-Smith J,
|
||
Träskelin AL,
|
||
Perveen R,
|
||
Kivitie-Kallio S,
|
||
Norio R,
|
||
Warburg M,
|
||
Fryns JP,
|
||
de la Chapelle A,
|
||
Lehesjoki AE</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2003 Jun;72(6):1359-69.
|
||
Epub 2003 May 2
|
||
doi: 10.1086/375454.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12730828" target="_blank">12730828</a><a href="/pmc/articles/PMC1180298" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20developmental%20disorder%2C%20autosomal%20recessive%2072%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 (4)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36077388">Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chuang CK,
|
||
Tu YR,
|
||
Lee CL,
|
||
Lo YT,
|
||
Chang YH,
|
||
Liu MY,
|
||
Liu HY,
|
||
Chen HJ,
|
||
Kao SM,
|
||
Wang LY,
|
||
Ho HJ,
|
||
Lin HY,
|
||
Lin SP</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2022 Sep 1;23(17)
|
||
doi: 10.3390/ijms23179979.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36077388" target="_blank">36077388</a><a href="/pmc/articles/PMC9456254" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31741144">Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mutlu-Albayrak H,
|
||
Kırat E,
|
||
Gürbüz G</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2020 Jan;21(1):59-66.
|
||
Epub 2019 Nov 19
|
||
doi: 10.1007/s10048-019-00597-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31741144" target="_blank">31741144</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28397838">Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harripaul R,
|
||
Vasli N,
|
||
Mikhailov A,
|
||
Rafiq MA,
|
||
Mittal K,
|
||
Windpassinger C,
|
||
Sheikh TI,
|
||
Noor A,
|
||
Mahmood H,
|
||
Downey S,
|
||
Johnson M,
|
||
Vleuten K,
|
||
Bell L,
|
||
Ilyas M,
|
||
Khan FS,
|
||
Khan V,
|
||
Moradi M,
|
||
Ayaz M,
|
||
Naeem F,
|
||
Heidari A,
|
||
Ahmed I,
|
||
Ghadami S,
|
||
Agha Z,
|
||
Zeinali S,
|
||
Qamar R,
|
||
Mozhdehipanah H,
|
||
John P,
|
||
Mir A,
|
||
Ansar M,
|
||
French L,
|
||
Ayub M,
|
||
Vincent JB</span><br />
|
||
<span class="medgenPMjournal">Mol Psychiatry</span>
|
||
2018 Apr;23(4):973-984.
|
||
Epub 2017 Apr 11
|
||
doi: 10.1038/mp.2017.60.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28397838" target="_blank">28397838</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21308988">Disorders of creatine transport and metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Longo N,
|
||
Ardon O,
|
||
Vanzo R,
|
||
Schwartz E,
|
||
Pasquali M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2011 Feb 15;157C(1):72-8.
|
||
Epub 2011 Feb 9
|
||
doi: 10.1002/ajmg.c.30292.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21308988" target="_blank">21308988</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17718851">Genetics of autosomal recessive non-syndromic mental retardation: recent advances.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Basel-Vanagaite L</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2007 Sep;72(3):167-74.
|
||
doi: 10.1111/j.1399-0004.2007.00881.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17718851" target="_blank">17718851</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20developmental%20disorder%2C%20autosomal%20recessive%2072%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 (13)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36757831">The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saffari A,
|
||
Lau T,
|
||
Tajsharghi H,
|
||
Karimiani EG,
|
||
Kariminejad A,
|
||
Efthymiou S,
|
||
Zifarelli G,
|
||
Sultan T,
|
||
Toosi MB,
|
||
Sedighzadeh S,
|
||
Siu VM,
|
||
Ortigoza-Escobar JD,
|
||
AlShamsi AM,
|
||
Ibrahim S,
|
||
Al-Sannaa NA,
|
||
Al-Hertani W,
|
||
Sandra W,
|
||
Tarnopolsky M,
|
||
Alavi S,
|
||
Li C,
|
||
Day-Salvatore DL,
|
||
Martínez-González MJ,
|
||
Levandoski KM,
|
||
Bedoukian E,
|
||
Madan-Khetarpal S,
|
||
Idleburg MJ,
|
||
Menezes MJ,
|
||
Siddharth A,
|
||
Platzer K,
|
||
Oppermann H,
|
||
Smitka M,
|
||
Collins F,
|
||
Lek M,
|
||
Shahrooei M,
|
||
Ghavideldarestani M,
|
||
Herman I,
|
||
Rendu J,
|
||
Faure J,
|
||
Baker J,
|
||
Bhambhani V,
|
||
Calderwood L,
|
||
Akhondian J,
|
||
Imannezhad S,
|
||
Mirzadeh HS,
|
||
Hashemi N,
|
||
Doosti M,
|
||
Safi M,
|
||
Ahangari N,
|
||
Torbati PN,
|
||
Abedini S,
|
||
Salpietro V,
|
||
Gulec EY,
|
||
Eshaghian S,
|
||
Ghazavi M,
|
||
Pascher MT,
|
||
Vogel M,
|
||
Abicht A,
|
||
Moutton S,
|
||
Bruel AL,
|
||
Rieubland C,
|
||
Gallati S,
|
||
Strom TM,
|
||
Lochmüller H,
|
||
Mohammadi MH,
|
||
Alvi JR,
|
||
Zackai EH,
|
||
Keena BA,
|
||
Skraban CM,
|
||
Berger SI,
|
||
Andrew EH,
|
||
Rahimian E,
|
||
Morrow MM,
|
||
Wentzensen IM,
|
||
Millan F,
|
||
Henderson LB,
|
||
Dafsari HS,
|
||
Jungbluth H,
|
||
Gomez-Ospina N,
|
||
McRae A,
|
||
Peter M,
|
||
Veltra D,
|
||
Marinakis NM,
|
||
Sofocleous C,
|
||
Ashrafzadeh F,
|
||
Pehlivan D,
|
||
Lemke JR,
|
||
Melki J,
|
||
Benezit A,
|
||
Bauer P,
|
||
Weis D,
|
||
Lupski JR,
|
||
Senderek J,
|
||
Christodoulou J,
|
||
Chung WK,
|
||
Goodchild R,
|
||
Offiah AC,
|
||
Moreno-De-Luca A,
|
||
Suri M,
|
||
Ebrahimi-Fakhari D,
|
||
Houlden H,
|
||
Maroofian R</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Aug 1;146(8):3273-3288.
|
||
doi: 10.1093/brain/awad039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36757831" target="_blank">36757831</a><a href="/pmc/articles/PMC10393417" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36077388">Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chuang CK,
|
||
Tu YR,
|
||
Lee CL,
|
||
Lo YT,
|
||
Chang YH,
|
||
Liu MY,
|
||
Liu HY,
|
||
Chen HJ,
|
||
Kao SM,
|
||
Wang LY,
|
||
Ho HJ,
|
||
Lin HY,
|
||
Lin SP</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2022 Sep 1;23(17)
|
||
doi: 10.3390/ijms23179979.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36077388" target="_blank">36077388</a><a href="/pmc/articles/PMC9456254" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20developmental%20disorder%2C%20autosomal%20recessive%2072%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 (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36757831">The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saffari A,
|
||
Lau T,
|
||
Tajsharghi H,
|
||
Karimiani EG,
|
||
Kariminejad A,
|
||
Efthymiou S,
|
||
Zifarelli G,
|
||
Sultan T,
|
||
Toosi MB,
|
||
Sedighzadeh S,
|
||
Siu VM,
|
||
Ortigoza-Escobar JD,
|
||
AlShamsi AM,
|
||
Ibrahim S,
|
||
Al-Sannaa NA,
|
||
Al-Hertani W,
|
||
Sandra W,
|
||
Tarnopolsky M,
|
||
Alavi S,
|
||
Li C,
|
||
Day-Salvatore DL,
|
||
Martínez-González MJ,
|
||
Levandoski KM,
|
||
Bedoukian E,
|
||
Madan-Khetarpal S,
|
||
Idleburg MJ,
|
||
Menezes MJ,
|
||
Siddharth A,
|
||
Platzer K,
|
||
Oppermann H,
|
||
Smitka M,
|
||
Collins F,
|
||
Lek M,
|
||
Shahrooei M,
|
||
Ghavideldarestani M,
|
||
Herman I,
|
||
Rendu J,
|
||
Faure J,
|
||
Baker J,
|
||
Bhambhani V,
|
||
Calderwood L,
|
||
Akhondian J,
|
||
Imannezhad S,
|
||
Mirzadeh HS,
|
||
Hashemi N,
|
||
Doosti M,
|
||
Safi M,
|
||
Ahangari N,
|
||
Torbati PN,
|
||
Abedini S,
|
||
Salpietro V,
|
||
Gulec EY,
|
||
Eshaghian S,
|
||
Ghazavi M,
|
||
Pascher MT,
|
||
Vogel M,
|
||
Abicht A,
|
||
Moutton S,
|
||
Bruel AL,
|
||
Rieubland C,
|
||
Gallati S,
|
||
Strom TM,
|
||
Lochmüller H,
|
||
Mohammadi MH,
|
||
Alvi JR,
|
||
Zackai EH,
|
||
Keena BA,
|
||
Skraban CM,
|
||
Berger SI,
|
||
Andrew EH,
|
||
Rahimian E,
|
||
Morrow MM,
|
||
Wentzensen IM,
|
||
Millan F,
|
||
Henderson LB,
|
||
Dafsari HS,
|
||
Jungbluth H,
|
||
Gomez-Ospina N,
|
||
McRae A,
|
||
Peter M,
|
||
Veltra D,
|
||
Marinakis NM,
|
||
Sofocleous C,
|
||
Ashrafzadeh F,
|
||
Pehlivan D,
|
||
Lemke JR,
|
||
Melki J,
|
||
Benezit A,
|
||
Bauer P,
|
||
Weis D,
|
||
Lupski JR,
|
||
Senderek J,
|
||
Christodoulou J,
|
||
Chung WK,
|
||
Goodchild R,
|
||
Offiah AC,
|
||
Moreno-De-Luca A,
|
||
Suri M,
|
||
Ebrahimi-Fakhari D,
|
||
Houlden H,
|
||
Maroofian R</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Aug 1;146(8):3273-3288.
|
||
doi: 10.1093/brain/awad039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36757831" target="_blank">36757831</a><a href="/pmc/articles/PMC10393417" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36077388">Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chuang CK,
|
||
Tu YR,
|
||
Lee CL,
|
||
Lo YT,
|
||
Chang YH,
|
||
Liu MY,
|
||
Liu HY,
|
||
Chen HJ,
|
||
Kao SM,
|
||
Wang LY,
|
||
Ho HJ,
|
||
Lin HY,
|
||
Lin SP</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2022 Sep 1;23(17)
|
||
doi: 10.3390/ijms23179979.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36077388" target="_blank">36077388</a><a href="/pmc/articles/PMC9456254" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19073947">Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cardoso C,
|
||
Boys A,
|
||
Parrini E,
|
||
Mignon-Ravix C,
|
||
McMahon JM,
|
||
Khantane S,
|
||
Bertini E,
|
||
Pallesi E,
|
||
Missirian C,
|
||
Zuffardi O,
|
||
Novara F,
|
||
Villard L,
|
||
Giglio S,
|
||
Chabrol B,
|
||
Slater HR,
|
||
Moncla A,
|
||
Scheffer IE,
|
||
Guerrini R</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2009 Mar 3;72(9):784-92.
|
||
Epub 2008 Dec 10
|
||
doi: 10.1212/01.wnl.0000336339.08878.2d.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19073947" target="_blank">19073947</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14598338">Chromosome instability induced in vitro with mitomycin C in five Seckel syndrome patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bobabilla-Morales L,
|
||
Corona-Rivera A,
|
||
Corona-Rivera JR,
|
||
Buenrostro C,
|
||
García-Cobián TA,
|
||
Corona-Rivera E,
|
||
Cantú-Garza JM,
|
||
García-Cruz D</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2003 Dec 1;123A(2):148-52.
|
||
doi: 10.1002/ajmg.a.20341.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14598338" target="_blank">14598338</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20developmental%20disorder%2C%20autosomal%20recessive%2072%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 (4)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/24464444">Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Agopiantz M,
|
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Corbonnois P,
|
||
Sorlin A,
|
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Bonnet C,
|
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Klein M,
|
||
Hubert N,
|
||
Pascal-Vigneron V,
|
||
Jonveaux P,
|
||
Cuny T,
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||
Leheup B,
|
||
Weryha G</span><br />
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<span class="medgenPMjournal">J Endocrinol Invest</span>
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2014 Jan;37(1):1-7.
|
||
Epub 2014 Jan 8
|
||
doi: 10.1007/s40618-013-0001-5.
|
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<span class="bold">PMID: </span><a href="/pubmed/24464444" target="_blank">24464444</a></div>
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