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<meta name="keywords" content="C0035372, autism dementia ataxia loss of purposeful hand use syndrome, autism, dementia, ataxia, and loss of purposeful hand use, autism-dementia-ataxia-loss of purposeful hand use syndrome, cerebroatrophic hyperammonemia, cerebroatrophic hyperammonemias, classic rett syndrome, disease or syndrome, hyperammonemia, cerebroatrophic, hyperammonemias, cerebroatrophic, mecp2, rett disorder, rett syndrome, rett syndrome, atypical, rett syndrome, atypical, x-linked dominant, rett syndrome, preserved speech variant, rett syndrome, preserved speech variant, x-linked dominant, rett syndrome, x-linked dominant, rett syndrome, zappella variant, rett's disorder, rett's syndrome, retts syndrome, rett’s disease, rts, rts - rett syndrome, rtt, syndrome, rett, syndrome, rett's, 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="The spectrum of MECP2-related phenotypes in females ranges from classic Rett syndrome to variant Rett syndrome with a broader clinical phenotype (either milder or more severe than classic Rett syndrome) to mild learning disabilities; the spectrum in males ranges from severe neonatal encephalopathy to pyramidal signs, parkinsonism, and macroorchidism (PPM-X) syndrome to severe syndromic/nonsyndromic intellectual disability. Females: Classic Rett syndrome, a progressive neurodevelopmental disorder primarily affecting girls, is characterized by apparently normal psychomotor development during the first six to 18 months of life, followed by a short period of developmental stagnation, then rapid regression in language and motor skills, followed by long-term stability. During the phase of rapid regression, repetitive, stereotypic hand movements replace purposeful hand use. Additional findings include fits of screaming and inconsolable crying, autistic features, panic-like attacks, bruxism, episodic apnea and/or hyperpnea, gait ataxia and apraxia, tremors, seizures, and acquired microcephaly. Males: Severe neonatal-onset encephalopathy, the most common phenotype in affected males, is characterized by a relentless clinical course that follows a metabolic-degenerative type of pattern, abnormal tone, involuntary movements, severe seizures, and breathing abnormalities. Death often occurs before age two years." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=48441
ConceptID=C0035372
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Rett syndrome<span class="h1sub">(RTT)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48441</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)&#10;Click for more information.">C0035372</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>AUTISM, DEMENTIA, ATAXIA, AND LOSS OF PURPOSEFUL HAND USE; Classic Rett Syndrome; Rett's disorder; RTT</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Rett's disorder (68618008); Rett syndrome (68618008); Cerebroatrophic hyperammonemia (68618008); RTS - Rett syndrome (68618008); Rett disorder (68618008)</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_376232"><div><strong>X-linked dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376232</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)&#10;Click for more information.">C1847879</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/376232">This record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_376232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked dominant inheritance</a><span> (Orphanet)</span></div></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="MECP2 - ID: 4204 - NCBI Gene" href="/gene/4204" class="medgenPMinfo">MECP2</a> (Xq28)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0010726" target="_blank">MONDO:0010726</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/312750" target="_blank">312750</a></td></tr>
<tr><td>Orphanet:</td>
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&amp;Expert=778">ORPHA778</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_101">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1497" target="_blank">MECP2 Disorders</a></div><div>The spectrum of MECP2-related phenotypes in females ranges from classic Rett syndrome to variant Rett syndrome with a broader clinical phenotype (either milder or more severe than classic Rett syndrome) to mild learning disabilities; the spectrum in males ranges from severe neonatal encephalopathy to pyramidal signs, parkinsonism, and macroorchidism (PPM-X) syndrome to severe syndromic/nonsyndromic intellectual disability. Females: Classic Rett syndrome, a progressive neurodevelopmental disorder primarily affecting girls, is characterized by apparently normal psychomotor development during the first six to 18 months of life, followed by a short period of developmental stagnation, then rapid regression in language and motor skills, followed by long-term stability. During the phase of rapid regression, repetitive, stereotypic hand movements replace purposeful hand use. Additional findings include fits of screaming and inconsolable crying, autistic features, panic-like attacks, bruxism, episodic apnea and/or hyperpnea, gait ataxia and apraxia, tremors, seizures, and acquired microcephaly. Males: Severe neonatal-onset encephalopathy, the most common phenotype in affected males, is characterized by a relentless clinical course that follows a metabolic-degenerative type of pattern, abnormal tone, involuntary movements, severe seizures, and breathing abnormalities. Death often occurs before age two years. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1497#rett.Summary" target="NBK1497">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK1497#rett.GeneReview_Scope" target="NBK1497">GeneReview Scope</a>  |  <a class="medgenPMinfo" href="/books/NBK1497#rett.Diagnosis" target="NBK1497">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1497#rett.Clinical_Characteristics" target="NBK1497">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK1497#rett.Genetically_Related_Allelic_Disorde" target="NBK1497">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK1497#rett.Differential_Diagnosis" target="NBK1497">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1497#rett.Management" target="NBK1497">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK1497#rett.Genetic_Counseling" target="NBK1497">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK1497#rett.Resources" target="NBK1497">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK1497#rett.Molecular_Genetics" target="NBK1497">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK1497#rett.Chapter_Notes" target="NBK1497">Chapter Notes</a>  |  <a class="medgenPMinfo" href="/books/NBK1497#rett.References" target="NBK1497">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Simranpreet Kaur  |  John Christodoulou   <a href="/books/NBK1497" target="NBK1497" title="NCBI Bookshelf: MECP2 Disorders">view full author information</a></div></div>
</div>
<div class="portlet mgSection" id="ID_117">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Rett syndrome is a neurodevelopmental disorder that occurs almost exclusively in females. It is characterized by arrested development between 6 and 18 months of age, regression of acquired skills, loss of speech, stereotypic movements (classically of the hands), microcephaly, seizures, and mental retardation. Rarely, classically affected males with somatic mosaicism or an extra X chromosome have been described (Moog et al., 2003).  <a target="_blank" href="http://www.omim.org/entry/312750">http://www.omim.org/entry/312750</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />PPM-X syndrome is a condition characterized by psychotic disorders (most commonly bipolar disorder), a pattern of movement abnormalities known as parkinsonism, and mild to severe intellectual disability with impaired language development. Other symptoms may include muscle stiffness (spasticity), exaggerated reflexes, and an abnormally small head (microcephaly). Affected males may have enlarged testes (macro-orchidism). Not all affected individuals have all these symptoms, but most have intellectual disability. Males with this condition are typically more severely affected than females, who usually have only mild intellectual disability or learning disabilities.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/ppm-x-syndrome">https://medlineplus.gov/genetics/condition/ppm-x-syndrome</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Rett syndrome is a brain disorder that occurs almost exclusively in girls. The most common form of the condition is known as classic Rett syndrome. After birth, girls with classic Rett syndrome have 6 to 18 months of apparently normal development before developing severe problems with language and communication, learning, coordination, and other brain functions. Early in childhood, affected girls lose purposeful use of their hands and begin making repeated hand wringing, washing, or clapping motions. They tend to grow more slowly than other children and about three-quarters have a small head size (microcephaly). Other signs and symptoms that can develop include breathing abnormalities, spitting or drooling, unusual eye movements such as intense staring or excessive blinking, cold hands and feet, irritability, sleep disturbances, seizures, and an abnormal side-to-side curvature of the spine (scoliosis).<br /><br />Researchers have described several variant or atypical forms of Rett syndrome, which can be milder or more severe than the classic form.<br /><br />Rett syndrome is part of a spectrum of disorders with the same genetic cause. Other disorders on the spectrum include PPM-X syndrome, MECP2 duplication syndrome, and MECP2-related severe neonatal encephalopathy. These other conditions can affect males.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/rett-syndrome">https://medlineplus.gov/genetics/condition/rett-syndrome</a></div></div>
</div>
<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_376415"><div><strong>Short foot</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376415</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)&#10;Click for more information.">C1848673</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/376415">Feature record</a> | <a href="/medgen?term=%22Short%20foot%22%5BClinical%20Features%5D%20OR%20376415%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_294666"><div><strong>Prolonged QTc interval</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>294666</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)&#10;Click for more information.">C1560305</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/294666">Feature record</a> | <a href="/medgen?term=%22Prolonged%20QTc%20interval%22%5BClinical%20Features%5D%20OR%20294666%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_326862"><div><strong>Abnormal T-wave</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326862</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)&#10;Click for more information.">C1839341</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/326862">Feature record</a> | <a href="/medgen?term=%22Abnormal%20T-wave%22%5BClinical%20Features%5D%20OR%20326862%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_2773"><div><strong>Cachexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2773</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)&#10;Click for more information.">C0006625</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/2773">Feature record</a> | <a href="/medgen?term=%22Cachexia%22%5BClinical%20Features%5D%20OR%202773%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</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)&#10;Click for more information.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1101"><div><strong>Constipation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1101</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)&#10;Click for more information.">C0009806</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Infrequent or difficult evacuation of feces.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1101">Feature record</a> | <a href="/medgen?term=%22Constipation%22%5BClinical%20Features%5D%20OR%201101%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1368658"><div><strong>Gastroesophageal reflux</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1368658</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)&#10;Click for more information.">C4317146</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1368658">Feature record</a> | <a href="/medgen?term=%22Gastroesophageal%20reflux%22%5BClinical%20Features%5D%20OR%201368658%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_676"><div><strong>Bruxism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>676</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)&#10;Click for more information.">C0006325</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep, but also can occur while the affected individual is awake.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/676">Feature record</a> | <a href="/medgen?term=%22Bruxism%22%5BClinical%20Features%5D%20OR%20676%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_3940"><div><strong>Dystonic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3940</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)&#10;Click for more information.">C0013421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3940">Feature record</a> | <a href="/medgen?term=%22Dystonic%20disorder%22%5BClinical%20Features%5D%20OR%203940%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)&#10;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)&#10;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_56235"><div><strong>EEG abnormality</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56235</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)&#10;Click for more information.">C0151611</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/56235">Feature record</a> | <a href="/medgen?term=%22EEG%20abnormality%22%5BClinical%20Features%5D%20OR%2056235%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_96535"><div><strong>Truncal ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96535</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)&#10;Click for more information.">C0427190</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/96535">Feature record</a> | <a href="/medgen?term=%22Truncal%20ataxia%22%5BClinical%20Features%5D%20OR%2096535%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_646835"><div><strong>Stereotypical hand wringing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>646835</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)&#10;Click for more information.">C0562479</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Habitual clasping and wringing of the hands in the middle of the body, similar to a hand-washing movement.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/646835">Feature record</a> | <a href="/medgen?term=%22Stereotypical%20hand%20wringing%22%5BClinical%20Features%5D%20OR%20646835%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_155642"><div><strong>Gait ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155642</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)&#10;Click for more information.">C0751837</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/155642">Feature record</a> | <a href="/medgen?term=%22Gait%20ataxia%22%5BClinical%20Features%5D%20OR%20155642%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)&#10;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_266930"><div><strong>Gait apraxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>266930</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)&#10;Click for more information.">C1510417</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Gait apraxia affecting the ability to make walking movements with the legs.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/266930">Feature record</a> | <a href="/medgen?term=%22Gait%20apraxia%22%5BClinical%20Features%5D%20OR%20266930%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_324613"><div><strong>Developmental regression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324613</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)&#10;Click for more information.">C1836830</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Loss of developmental skills, as manifested by loss of developmental milestones.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/324613">Feature record</a> | <a href="/medgen?term=%22Developmental%20regression%22%5BClinical%20Features%5D%20OR%20324613%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_356495"><div><strong>Motor deterioration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356495</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)&#10;Click for more information.">C1866284</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Loss of previously present motor (i.e., movement) abilities.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/356495">Feature record</a> | <a href="/medgen?term=%22Motor%20deterioration%22%5BClinical%20Features%5D%20OR%20356495%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_892508"><div><strong>Intellectual disability, profound</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892508</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)&#10;Click for more information.">C3161330</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Profound mental retardation is defined as an intelligence quotient (IQ) below 20.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/892508">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20profound%22%5BClinical%20Features%5D%20OR%20892508%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1646740"><div><strong>Cerebral cortical atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646740</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4551583</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Atrophy of the cortex of the cerebrum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1646740">Feature record</a> | <a href="/medgen?term=%22Cerebral%20cortical%20atrophy%22%5BClinical%20Features%5D%20OR%201646740%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_44042"><div><strong>Kyphosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44042</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)&#10;Click for more information.">C0022821</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Exaggerated anterior convexity of the thoracic vertebral column.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/44042">Feature record</a> | <a href="/medgen?term=%22Kyphosis%22%5BClinical%20Features%5D%20OR%2044042%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_11348"><div><strong>Scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11348</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)&#10;Click for more information.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen?term=%22Scoliosis%22%5BClinical%20Features%5D%20OR%2011348%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_608952"><div><strong>Secondary microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>608952</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)&#10;Click for more information.">C0431352</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/608952">Feature record</a> | <a href="/medgen?term=%22Secondary%20microcephaly%22%5BClinical%20Features%5D%20OR%20608952%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_892680"><div><strong>Muscular atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892680</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)&#10;Click for more information.">C0541794</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">The presence of skeletal muscular atrophy (which is also known as amyotrophy).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/892680">Feature record</a> | <a href="/medgen?term=%22Muscular%20atrophy%22%5BClinical%20Features%5D%20OR%20892680%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_2009"><div><strong>Apnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2009</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)&#10;Click for more information.">C0003578</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/2009">Feature record</a> | <a href="/medgen?term=%22Apnea%22%5BClinical%20Features%5D%20OR%202009%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_321811"><div><strong>Intermittent hyperventilation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>321811</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)&#10;Click for more information.">C1828017</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Episodic hyperventilation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/321811">Feature record</a> | <a href="/medgen?term=%22Intermittent%20hyperventilation%22%5BClinical%20Features%5D%20OR%20321811%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_78084"><div><strong>Abnormality of the dentition</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78084</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)&#10;Click for more information.">C0262444</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Any abnormality of the teeth.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/78084">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20dentition%22%5BClinical%20Features%5D%20OR%2078084%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(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).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_78084" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the dentition</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_376415" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short foot</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_326862" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal T-wave</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_294666" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prolonged QTc interval</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1101" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Constipation</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1368658" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastroesophageal reflux</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_44042" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kyphosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892680" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular atrophy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scoliosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_608952" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Secondary 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_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_676" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bruxism</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1646740" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral cortical atrophy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental regression</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonic disorder</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56235" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EEG abnormality</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_266930" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gait apraxia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_155642" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gait ataxia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892508" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, profound</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_356495" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor deterioration</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spasticity</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_646835" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stereotypical hand wringing</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96535" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Truncal ataxia</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Apnea</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_321811" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intermittent hyperventilation</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_2773" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cachexia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</a></span></li></ul></li></ul></div></div>
</div>
<div class="portlet mgSection" id="ID_118">
<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><li><a href="#tabORDO">Orphanet</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="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0035372[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=48441">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=48441" target="_blank" href="/omim/300005">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1497/" ref="ncbi_uid=48441">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=48441" ref="ncbi_uid=48441">V</a></span></span><span class="TLline">Rett syndrome</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1968556[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=409616">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=409616" target="_blank" href="/omim/300005">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1497/" ref="ncbi_uid=409616">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=409616" ref="ncbi_uid=409616">V</a></span></span><span class="TLline"><a href="/medgen/409616" ref="tree=GTR&amp;ncbi_uid=409616&amp;link_uid=409616" title="View MedGen record for 'Severe neonatal-onset encephalopathy with microcephaly'">Severe neonatal-onset encephalopathy with microcephaly</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842675" ref="tree=MeSH" title="MedGen record for Monogenic epilepsy">Monogenic epilepsy</a></span><ul><li><span class="matched_ds">Rett syndrome</span><ul><li><span class="TLline"><a href="/medgen/462055" ref="tree=MeSH" title="MedGen record for Rett syndrome, congenital variant">Rett syndrome, congenital variant</a></span></li><li><span class="TLline"><a href="/medgen/409616" ref="tree=MeSH" title="MedGen record for Severe neonatal-onset encephalopathy with microcephaly">Severe neonatal-onset encephalopathy with microcephaly</a></span></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&amp;data_id=156&amp;PatId=91&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Rett syndrome</span> in Orphanet.</div></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/37628658">Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vilvarajan S,
McDonald M,
Douglas L,
Newham J,
Kirkland R,
Tzannes G,
Tay D,
Christodoulou J,
Thompson S,
Ellaway C</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2023 Aug 11;14(8)
doi: 10.3390/genes14081607.
<span class="bold">PMID: </span><a href="/pubmed/37628658" target="_blank">37628658</a><a href="/pmc/articles/PMC10454341" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35483386">CDKL5 deficiency disorder: clinical features, diagnosis, and management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Leonard H,
Downs J,
Benke TA,
Swanson L,
Olson H,
Demarest S</span><br />
<span class="medgenPMjournal">Lancet Neurol</span>
2022 Jun;21(6):563-576.
Epub 2022 Apr 25
doi: 10.1016/S1474-4422(22)00035-7.
<span class="bold">PMID: </span><a href="/pubmed/35483386" target="_blank">35483386</a><a href="/pmc/articles/PMC9788833" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30649225">Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Banerjee A,
Miller MT,
Li K,
Sur M,
Kaufmann WE</span><br />
<span class="medgenPMjournal">Brain</span>
2019 Feb 1;142(2):239-248.
doi: 10.1093/brain/awy323.
<span class="bold">PMID: </span><a href="/pubmed/30649225" target="_blank">30649225</a><a href="/pmc/articles/PMC6933507" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22rett%20syndrome%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 (140)</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/38697112">MECP2 directly interacts with RNA polymerase II to modulate transcription in human neurons.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liu Y,
Flamier A,
Bell GW,
Diao AJ,
Whitfield TW,
Wang HC,
Wu Y,
Schulte F,
Friesen M,
Guo R,
Mitalipova M,
Liu XS,
Vos SM,
Young RA,
Jaenisch R</span><br />
<span class="medgenPMjournal">Neuron</span>
2024 Jun 19;112(12):1943-1958.e10.
Epub 2024 May 1
doi: 10.1016/j.neuron.2024.04.007.
<span class="bold">PMID: </span><a href="/pubmed/38697112" target="_blank">38697112</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38254921">The Efficacy of a Human-Ready miniMECP2 Gene Therapy in a Pre-Clinical Model of Rett Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sadhu C,
Lyons C,
Oh J,
Jagadeeswaran I,
Gray SJ,
Sinnett SE</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2023 Dec 24;15(1)
doi: 10.3390/genes15010031.
<span class="bold">PMID: </span><a href="/pubmed/38254921" target="_blank">38254921</a><a href="/pmc/articles/PMC10815157" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37628658">Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vilvarajan S,
McDonald M,
Douglas L,
Newham J,
Kirkland R,
Tzannes G,
Tay D,
Christodoulou J,
Thompson S,
Ellaway C</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2023 Aug 11;14(8)
doi: 10.3390/genes14081607.
<span class="bold">PMID: </span><a href="/pubmed/37628658" target="_blank">37628658</a><a href="/pmc/articles/PMC10454341" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30216533">Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cappuccio G,
Bernardo P,
Raiano E,
Pinelli M,
Alagia M,
Esposito M,
Della Casa R,
Strisciuglio P,
Brunetti-Pierri N,
Bravaccio C</span><br />
<span class="medgenPMjournal">Acta Paediatr</span>
2019 Jan;108(1):171-172.
Epub 2018 Oct 17
doi: 10.1111/apa.14576.
<span class="bold">PMID: </span><a href="/pubmed/30216533" target="_blank">30216533</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25182180">Intervention in the context of development: pathways toward new treatments.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Veenstra-VanderWeele J,
Warren Z</span><br />
<span class="medgenPMjournal">Neuropsychopharmacology</span>
2015 Jan;40(1):225-37.
Epub 2014 Sep 3
doi: 10.1038/npp.2014.232.
<span class="bold">PMID: </span><a href="/pubmed/25182180" target="_blank">25182180</a><a href="/pmc/articles/PMC4262912" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rett%20syndrome%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 (784)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39511247">Rett syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gold WA,
Percy AK,
Neul JL,
Cobb SR,
Pozzo-Miller L,
Issar JK,
Ben-Zeev B,
Vignoli A,
Kaufmann WE</span><br />
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
2024 Nov 7;10(1):84.
doi: 10.1038/s41572-024-00568-0.
<span class="bold">PMID: </span><a href="/pubmed/39511247" target="_blank">39511247</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37628658">Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vilvarajan S,
McDonald M,
Douglas L,
Newham J,
Kirkland R,
Tzannes G,
Tay D,
Christodoulou J,
Thompson S,
Ellaway C</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2023 Aug 11;14(8)
doi: 10.3390/genes14081607.
<span class="bold">PMID: </span><a href="/pubmed/37628658" target="_blank">37628658</a><a href="/pmc/articles/PMC10454341" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36642718">Global prevalence of Rett syndrome: systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Petriti U,
Dudman DC,
Scosyrev E,
Lopez-Leon S</span><br />
<span class="medgenPMjournal">Syst Rev</span>
2023 Jan 16;12(1):5.
doi: 10.1186/s13643-023-02169-6.
<span class="bold">PMID: </span><a href="/pubmed/36642718" target="_blank">36642718</a><a href="/pmc/articles/PMC9841621" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31409060">Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vidal S,
Xiol C,
Pascual-Alonso A,
O'Callaghan M,
Pineda M,
Armstrong J</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2019 Aug 12;20(16)
doi: 10.3390/ijms20163925.
<span class="bold">PMID: </span><a href="/pubmed/31409060" target="_blank">31409060</a><a href="/pmc/articles/PMC6719047" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30649225">Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Banerjee A,
Miller MT,
Li K,
Sur M,
Kaufmann WE</span><br />
<span class="medgenPMjournal">Brain</span>
2019 Feb 1;142(2):239-248.
doi: 10.1093/brain/awy323.
<span class="bold">PMID: </span><a href="/pubmed/30649225" target="_blank">30649225</a><a href="/pmc/articles/PMC6933507" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rett%20syndrome%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 (1067)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/37291210">Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Neul JL,
Percy AK,
Benke TA,
Berry-Kravis EM,
Glaze DG,
Marsh ED,
Lin T,
Stankovic S,
Bishop KM,
Youakim JM</span><br />
<span class="medgenPMjournal">Nat Med</span>
2023 Jun;29(6):1468-1475.
Epub 2023 Jun 8
doi: 10.1038/s41591-023-02398-1.
<span class="bold">PMID: </span><a href="/pubmed/37291210" target="_blank">37291210</a><a href="/pmc/articles/PMC10287558" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36642718">Global prevalence of Rett syndrome: systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Petriti U,
Dudman DC,
Scosyrev E,
Lopez-Leon S</span><br />
<span class="medgenPMjournal">Syst Rev</span>
2023 Jan 16;12(1):5.
doi: 10.1186/s13643-023-02169-6.
<span class="bold">PMID: </span><a href="/pubmed/36642718" target="_blank">36642718</a><a href="/pmc/articles/PMC9841621" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33332006">Cannabidiol Therapy for Refractory Epilepsy and Seizure Disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Golub V,
Reddy DS</span><br />
<span class="medgenPMjournal">Adv Exp Med Biol</span>
2021;1264:93-110.
doi: 10.1007/978-3-030-57369-0_7.
<span class="bold">PMID: </span><a href="/pubmed/33332006" target="_blank">33332006</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30793794">Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A Pharmacotherapy Overview.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sabus A,
Feinstein J,
Romani P,
Goldson E,
Blackmer A</span><br />
<span class="medgenPMjournal">Pharmacotherapy</span>
2019 Jun;39(6):645-664.
Epub 2019 Mar 27
doi: 10.1002/phar.2238.
<span class="bold">PMID: </span><a href="/pubmed/30793794" target="_blank">30793794</a><a href="/pmc/articles/PMC6555654" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29445033">Rett syndrome: a neurological disorder with metabolic components.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kyle SM,
Vashi N,
Justice MJ</span><br />
<span class="medgenPMjournal">Open Biol</span>
2018 Feb;8(2)
doi: 10.1098/rsob.170216.
<span class="bold">PMID: </span><a href="/pubmed/29445033" target="_blank">29445033</a><a href="/pmc/articles/PMC5830535" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rett%20syndrome%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 (355)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37921875">Clinical and functional consequences of GRIA variants in patients with neurological diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">XiangWei W,
Perszyk RE,
Liu N,
Xu Y,
Bhattacharya S,
Shaulsky GH,
Smith-Hicks C,
Fatemi A,
Fry AE,
Chandler K,
Wang T,
Vogt J,
Cohen JS,
Paciorkowski AR,
Poduri A,
Zhang Y,
Wang S,
Wang Y,
Zhai Q,
Fang F,
Leng J,
Garber K,
Myers SJ,
Jauss RT,
Park KL,
Benke TA,
Lemke JR,
Yuan H,
Jiang Y,
Traynelis SF</span><br />
<span class="medgenPMjournal">Cell Mol Life Sci</span>
2023 Nov 3;80(11):345.
doi: 10.1007/s00018-023-04991-6.
<span class="bold">PMID: </span><a href="/pubmed/37921875" target="_blank">37921875</a><a href="/pmc/articles/PMC10754216" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37628658">Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vilvarajan S,
McDonald M,
Douglas L,
Newham J,
Kirkland R,
Tzannes G,
Tay D,
Christodoulou J,
Thompson S,
Ellaway C</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2023 Aug 11;14(8)
doi: 10.3390/genes14081607.
<span class="bold">PMID: </span><a href="/pubmed/37628658" target="_blank">37628658</a><a href="/pmc/articles/PMC10454341" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33597769">DLG4-related synaptopathy: a new rare brain disorder.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rodríguez-Palmero A,
Boerrigter MM,
Gómez-Andrés D,
Aldinger KA,
Marcos-Alcalde Í,
Popp B,
Everman DB,
Lovgren AK,
Arpin S,
Bahrambeigi V,
Beunders G,
Bisgaard AM,
Bjerregaard VA,
Bruel AL,
Challman TD,
Cogné B,
Coubes C,
de Man SA,
Denommé-Pichon AS,
Dye TJ,
Elmslie F,
Feuk L,
García-Miñaúr S,
Gertler T,
Giorgio E,
Gruchy N,
Haack TB,
Haldeman-Englert CR,
Haukanes BI,
Hoyer J,
Hurst ACE,
Isidor B,
Soller MJ,
Kushary S,
Kvarnung M,
Landau YE,
Leppig KA,
Lindstrand A,
Kleinendorst L,
MacKenzie A,
Mandrile G,
Mendelsohn BA,
Moghadasi S,
Morton JE,
Moutton S,
Müller AJ,
O'Leary M,
Pacio-Míguez M,
Palomares-Bralo M,
Parikh S,
Pfundt R,
Pode-Shakked B,
Rauch A,
Repnikova E,
Revah-Politi A,
Ross MJ,
Ruivenkamp CAL,
Sarrazin E,
Savatt JM,
Schlüter A,
Schönewolf-Greulich B,
Shad Z,
Shaw-Smith C,
Shieh JT,
Shohat M,
Spranger S,
Thiese H,
Mau-Them FT,
van Bon B,
van de Burgt I,
van de Laar IMBH,
van Drie E,
van Haelst MM,
van Ravenswaaij-Arts CM,
Verdura E,
Vitobello A,
Waldmüller S,
Whiting S,
Zweier C,
Prada CE,
de Vries BBA,
Dobyns WB,
Reiter SF,
Gómez-Puertas P,
Pujol A,
Tümer Z</span><br />
<span class="medgenPMjournal">Genet Med</span>
2021 May;23(5):888-899.
Epub 2021 Feb 17
doi: 10.1038/s41436-020-01075-9.
<span class="bold">PMID: </span><a href="/pubmed/33597769" target="_blank">33597769</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31108160">Rett syndrome before regression: A time window of overlooked opportunities for diagnosis and intervention.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cosentino L,
Vigli D,
Franchi F,
Laviola G,
De Filippis B</span><br />
<span class="medgenPMjournal">Neurosci Biobehav Rev</span>
2019 Dec;107:115-135.
Epub 2019 May 18
doi: 10.1016/j.neubiorev.2019.05.013.
<span class="bold">PMID: </span><a href="/pubmed/31108160" target="_blank">31108160</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30216533">Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cappuccio G,
Bernardo P,
Raiano E,
Pinelli M,
Alagia M,
Esposito M,
Della Casa R,
Strisciuglio P,
Brunetti-Pierri N,
Bravaccio C</span><br />
<span class="medgenPMjournal">Acta Paediatr</span>
2019 Jan;108(1):171-172.
Epub 2018 Oct 17
doi: 10.1111/apa.14576.
<span class="bold">PMID: </span><a href="/pubmed/30216533" target="_blank">30216533</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rett%20syndrome%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 (343)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/37628658">Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vilvarajan S,
McDonald M,
Douglas L,
Newham J,
Kirkland R,
Tzannes G,
Tay D,
Christodoulou J,
Thompson S,
Ellaway C</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2023 Aug 11;14(8)
doi: 10.3390/genes14081607.
<span class="bold">PMID: </span><a href="/pubmed/37628658" target="_blank">37628658</a><a href="/pmc/articles/PMC10454341" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37291210">Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Neul JL,
Percy AK,
Benke TA,
Berry-Kravis EM,
Glaze DG,
Marsh ED,
Lin T,
Stankovic S,
Bishop KM,
Youakim JM</span><br />
<span class="medgenPMjournal">Nat Med</span>
2023 Jun;29(6):1468-1475.
Epub 2023 Jun 8
doi: 10.1038/s41591-023-02398-1.
<span class="bold">PMID: </span><a href="/pubmed/37291210" target="_blank">37291210</a><a href="/pmc/articles/PMC10287558" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35149233">Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Neul JL,
Percy AK,
Benke TA,
Berry-Kravis EM,
Glaze DG,
Peters SU,
Jones NE,
Youakim JM</span><br />
<span class="medgenPMjournal">Contemp Clin Trials</span>
2022 Mar;114:106704.
Epub 2022 Feb 8
doi: 10.1016/j.cct.2022.106704.
<span class="bold">PMID: </span><a href="/pubmed/35149233" target="_blank">35149233</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32702338">Advances in understanding of Rett syndrome and MECP2 duplication syndrome: prospects for future therapies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sandweiss AJ,
Brandt VL,
Zoghbi HY</span><br />
<span class="medgenPMjournal">Lancet Neurol</span>
2020 Aug;19(8):689-698.
doi: 10.1016/S1474-4422(20)30217-9.
<span class="bold">PMID: </span><a href="/pubmed/32702338" target="_blank">32702338</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28766954">Dysphagia in Rett Syndrome: A Descriptive Study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mezzedimi C,
Livi W,
De Felice C,
Cocca S</span><br />
<span class="medgenPMjournal">Ann Otol Rhinol Laryngol</span>
2017 Sep;126(9):640-645.
Epub 2017 Aug 2
doi: 10.1177/0003489417723033.
<span class="bold">PMID: </span><a href="/pubmed/28766954" target="_blank">28766954</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rett%20syndrome%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 (771)</a></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/36642718">Global prevalence of Rett syndrome: systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Petriti U,
Dudman DC,
Scosyrev E,
Lopez-Leon S</span><br />
<span class="medgenPMjournal">Syst Rev</span>
2023 Jan 16;12(1):5.
doi: 10.1186/s13643-023-02169-6.
<span class="bold">PMID: </span><a href="/pubmed/36642718" target="_blank">36642718</a><a href="/pmc/articles/PMC9841621" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34273379">The neuropathology of autism: A systematic review of post-mortem studies of autism and related disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fetit R,
Hillary RF,
Price DJ,
Lawrie SM</span><br />
<span class="medgenPMjournal">Neurosci Biobehav Rev</span>
2021 Oct;129:35-62.
Epub 2021 Jul 14
doi: 10.1016/j.neubiorev.2021.07.014.
<span class="bold">PMID: </span><a href="/pubmed/34273379" target="_blank">34273379</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33525609">Oral Manifestations of Rett Syndrome-A Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mahdi SS,
Jafri HA,
Allana R,
Amenta F,
Khawaja M,
Qasim SSB</span><br />
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
2021 Jan 28;18(3)
doi: 10.3390/ijerph18031162.
<span class="bold">PMID: </span><a href="/pubmed/33525609" target="_blank">33525609</a><a href="/pmc/articles/PMC7908587" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26254891">Brief report: systematic review of Rett syndrome in males.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Reichow B,
George-Puskar A,
Lutz T,
Smith IC,
Volkmar FR</span><br />
<span class="medgenPMjournal">J Autism Dev Disord</span>
2015 Oct;45(10):3377-83.
doi: 10.1007/s10803-015-2519-1.
<span class="bold">PMID: </span><a href="/pubmed/26254891" target="_blank">26254891</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20526264">Oral findings in Rett syndrome: a systematic review of the dental literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fuertes-González MC,
Silvestre FJ,
Almerich-Silla JM</span><br />
<span class="medgenPMjournal">Med Oral Patol Oral Cir Bucal</span>
2011 Jan 1;16(1):e37-41.
doi: 10.4317/medoral.16.e37.
<span class="bold">PMID: </span><a href="/pubmed/20526264" target="_blank">20526264</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Rett%20syndrome%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 (32)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0035372%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (74)</a></li>
<li><a href="/gtr/tests?term=C0035372%5bDISCUI%5d&amp;filter=method%3A2%5F29" target="_blank">Detection of homozygosity (2)</a></li>
<li><a href="/gtr/tests?term=C0035372%5bDISCUI%5d&amp;filter=method%3A2%5F15" target="_blank">Methylation analysis (1)</a></li>
<li><a href="/gtr/tests?term=C0035372%5bDISCUI%5d&amp;filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
<li><a href="/gtr/tests?term=C0035372%5bDISCUI%5d&amp;filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (2)</a></li>
<li><a href="/gtr/tests?term=C0035372%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
<li><a href="/gtr/tests?term=C0035372%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (101)</a></li>
<li><a href="/gtr/tests?term=C0035372%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (11)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0035372%5bDISCUI%5d" target="_blank">See all (128)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=312750" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=778" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Rett%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22rett%20syndrome%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Rett%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=300005" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=4204[geneid]" target="_blank">View MECP2 variations in ClinVar</a></li><li><a href="/nuccore/160624914" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=312750" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Rett+syndrome/6294" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/rett_syndrome" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Rett%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="#" class="jig-ncbipopper results_settings" role="button" aria-expanded="false" aria-haspopup="true" data-jigconfig="triggerPosition : 'bottom center',destPosition : 'top center', hasArrow : false,openEvent : 'click',closeEvent : 'click',isTriggerElementCloseClick: false, addCloseButton : false, groupName: 'entrez_pg',destSelector : '#ghrPopup'">MedlinePlusGenetics (GHR)<span class="tgt_dark"></span></a></li><li><a href="https://rarediseases.info.nih.gov/diseases/5696/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul><div id="ghrPopup" aria-live="assertive" aria-hidden="true" style="display: none;" class="portlet_popup tabPopper ui-helper-reset ui-ncbipopper-wrapper ui-ncbipopper-basic"><ul class="column_list"><li><a target="_blank" href="https://medlineplus.gov/genetics/condition/ppm-x-syndrome">Ppm x syndrome</a></li><li><a target="_blank" href="https://medlineplus.gov/genetics/condition/rett-syndrome">Rett syndrome</a></li></ul></div></div>
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