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<meta name="keywords" content="C0000772, abnormalities, multiple, congenital abnormality, congenital anomalies, mca, multiple abnormalities, multiple congenital anomalies, multiple congenital malformations, 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 presence of multiple congenital malformations in a patient." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=7806
|
||
ConceptID=C0000772
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Multiple congenital anomalies<span class="h1sub">(MCA)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7806</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:">C0000772</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
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<td>CONGENITAL ANOMALIES; MCA; Multiple congenital malformations</td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">The presence of multiple congenital malformations in a patient. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0000772[DISCUI]&test_type=Clinical" ref="ncbi_uid=7806">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=7806" ref="ncbi_uid=7806">V</a></span></span><span class="TLline">Multiple congenital anomalies</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="matched_ds">Multiple congenital anomalies</span><ul><li><span class="TLline"><a href="/medgen/422333" ref="tree=MeSH" title="MedGen record for 22q11 Deletion Syndrome">22q11 Deletion Syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/4297" ref="tree=MeSH" title="MedGen record for DiGeorge syndrome">DiGeorge syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/107893" ref="tree=MeSH" title="MedGen record for 3-Methylglutaconic aciduria type 2">3-Methylglutaconic aciduria type 2</a></span></li><li><span class="TLline"><a href="/medgen/408255" ref="tree=MeSH" title="MedGen record for 4p partial monosomy syndrome">4p partial monosomy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/41345" ref="tree=MeSH" title="MedGen record for 5p partial monosomy syndrome">5p partial monosomy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/58144" ref="tree=MeSH" title="MedGen record for Angelman syndrome">Angelman syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1842258" ref="tree=MeSH" title="MedGen record for Angelman syndrome due to a point mutation">Angelman syndrome due to a point mutation</a></span></li><li><span class="TLline"><a href="/medgen/1826135" ref="tree=MeSH" title="MedGen record for Angelman syndrome due to imprinting defect in 15q11-q13">Angelman syndrome due to imprinting defect in 15q11-q13</a></span></li><li><span class="TLline"><a href="/medgen/1797757" ref="tree=MeSH" title="MedGen record for Angelman syndrome due to maternal 15q11q13 deletion">Angelman syndrome due to maternal 15q11q13 deletion</a></span></li><li><span class="TLline"><a href="/medgen/1826078" ref="tree=MeSH" title="MedGen record for Angelman syndrome due to paternal uniparental disomy of chromosome 15">Angelman syndrome due to paternal uniparental disomy of chromosome 15</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/39014" ref="tree=MeSH" title="MedGen record for Arteriohepatic dysplasia">Arteriohepatic dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/1826025" ref="tree=MeSH" title="MedGen record for Alagille syndrome due to 20p12 microdeletion">Alagille syndrome due to 20p12 microdeletion</a></span></li><li><span class="TLline"><a href="/medgen/365434" ref="tree=MeSH" title="MedGen record for Alagille syndrome due to a JAG1 point mutation">Alagille syndrome due to a JAG1 point mutation</a></span></li><li><span class="TLline"><a href="/medgen/341844" ref="tree=MeSH" title="MedGen record for Alagille syndrome due to a NOTCH2 point mutation">Alagille syndrome due to a NOTCH2 point mutation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/108185" ref="tree=MeSH" title="MedGen record for Beaded hair">Beaded hair</a></span></li><li><span class="TLline"><a href="/medgen/2562" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome">Beckwith-Wiedemann syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1826104" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to 11p15 microdeletion">Beckwith-Wiedemann syndrome due to 11p15 microdeletion</a></span></li><li><span class="TLline"><a href="/medgen/1826126" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to 11p15 microduplication">Beckwith-Wiedemann syndrome due to 11p15 microduplication</a></span></li><li><span class="TLline"><a href="/medgen/1826105" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion">Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion</a></span></li><li><span class="TLline"><a href="/medgen/1826157" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to CDKN1C mutation">Beckwith-Wiedemann syndrome due to CDKN1C mutation</a></span></li><li><span class="TLline"><a href="/medgen/1842606" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to imprinting defect of 11p15">Beckwith-Wiedemann syndrome due to imprinting defect of 11p15</a></span></li><li><span class="TLline"><a href="/medgen/1825953" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to NSD1 mutation">Beckwith-Wiedemann syndrome due to NSD1 mutation</a></span></li><li><span class="TLline"><a href="/medgen/1843183" ref="tree=MeSH" title="MedGen record for Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11">Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/2685" ref="tree=MeSH" title="MedGen record for Bloom syndrome">Bloom syndrome</a></span></li><li><span class="TLline"><a href="/medgen/140810" ref="tree=MeSH" title="MedGen record for Carney complex">Carney complex</a></span><ul><li><span class="TLline"><a href="/medgen/340253" ref="tree=MeSH" title="MedGen record for Carney complex type 2">Carney complex type 2</a></span></li><li><span class="TLline"><a href="/medgen/388559" ref="tree=MeSH" title="MedGen record for Carney complex, type 1">Carney complex, type 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/75567" ref="tree=MeSH" title="MedGen record for CHARGE syndrome">CHARGE syndrome</a></span></li><li><span class="TLline"><a href="/medgen/908923" ref="tree=MeSH" title="MedGen record for Ciliopathy">Ciliopathy</a></span><ul><li><span class="TLline"><a href="/medgen/78675" ref="tree=MeSH" title="MedGen record for Alstrom syndrome">Alstrom syndrome</a></span></li><li><span class="TLline"><a href="/medgen/156019" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome">Bardet-Biedl syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/422452" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 1">Bardet-Biedl syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/422453" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 2">Bardet-Biedl syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/347179" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 3">Bardet-Biedl syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/423627" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 4">Bardet-Biedl syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/856141" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 5">Bardet-Biedl syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/347610" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 6">Bardet-Biedl syndrome 6</a></span></li><li><span class="TLline"><a href="/medgen/347180" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 7">Bardet-Biedl syndrome 7</a></span></li><li><span class="TLline"><a href="/medgen/347181" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 8">Bardet-Biedl syndrome 8</a></span></li><li><span class="TLline"><a href="/medgen/347182" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 9">Bardet-Biedl syndrome 9</a></span></li><li><span class="TLline"><a href="/medgen/347909" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 10">Bardet-Biedl syndrome 10</a></span></li><li><span class="TLline"><a href="/medgen/395295" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 11">Bardet-Biedl syndrome 11</a></span></li><li><span class="TLline"><a href="/medgen/347910" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 12">Bardet-Biedl syndrome 12</a></span></li><li><span class="TLline"><a href="/medgen/393032" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 13">Bardet-Biedl syndrome 13</a></span></li><li><span class="TLline"><a href="/medgen/393033" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 14">Bardet-Biedl syndrome 14</a></span></li><li><span class="TLline"><a href="/medgen/461477" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 15">Bardet-Biedl syndrome 15</a></span></li><li><span class="TLline"><a href="/medgen/855172" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome 16">Bardet-Biedl syndrome 16</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/91070" ref="tree=MeSH" title="MedGen record for Birt-Hogg-Dube syndrome">Birt-Hogg-Dube syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1051978" ref="tree=MeSH" title="MedGen record for Birt-Hogg-Dube syndrome 1">Birt-Hogg-Dube syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1841312" ref="tree=MeSH" title="MedGen record for Birt-Hogg-Dube syndrome 2">Birt-Hogg-Dube syndrome 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/57924" ref="tree=MeSH" title="MedGen record for Caroli disease">Caroli disease</a></span></li><li><span class="TLline"><a href="/medgen/226897" ref="tree=MeSH" title="MedGen record for Carpenter syndrome">Carpenter syndrome</a></span></li><li><span class="TLline"><a href="/medgen/900688" ref="tree=MeSH" title="MedGen record for Complex lethal osteochondrodysplasia">Complex lethal osteochondrodysplasia</a></span></li><li><span class="TLline"><a href="/medgen/120531" ref="tree=MeSH" title="MedGen record for Greig cephalopolysyndactyly syndrome">Greig cephalopolysyndactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419335" ref="tree=MeSH" title="MedGen record for Hydrolethalus syndrome">Hydrolethalus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1799564" ref="tree=MeSH" title="MedGen record for NEK9-related lethal skeletal dysplasia">NEK9-related lethal skeletal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/993107" ref="tree=MeSH" title="MedGen record for Oral-facial-digital syndrome with short stature and brachymesophalangy">Oral-facial-digital syndrome with short stature and brachymesophalangy</a></span></li><li><span class="TLline"><a href="/medgen/9639" ref="tree=MeSH" title="MedGen record for Polycystic kidney disease">Polycystic kidney disease</a></span><ul><li><span class="TLline"><a href="/medgen/88404" ref="tree=MeSH" title="MedGen record for Autosomal dominant polycystic kidney disease">Autosomal dominant polycystic kidney disease</a></span></li><li><span class="TLline"><a href="/medgen/39076" ref="tree=MeSH" title="MedGen record for Autosomal recessive polycystic kidney disease">Autosomal recessive polycystic kidney disease</a></span></li><li><span class="TLline"><a href="/medgen/539836" ref="tree=MeSH" title="MedGen record for Microcystic renal disease">Microcystic renal disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/3467" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia">Primary ciliary dyskinesia</a></span><ul><li><span class="TLline"><a href="/medgen/1393107" ref="tree=MeSH" title="MedGen record for Ciliary dyskinesia, primary, 36, X-linked">Ciliary dyskinesia, primary, 36, X-linked</a></span></li><li><span class="TLline"><a href="/medgen/1615746" ref="tree=MeSH" title="MedGen record for Ciliary dyskinesia, primary, 37">Ciliary dyskinesia, primary, 37</a></span></li><li><span class="TLline"><a href="/medgen/1648465" ref="tree=MeSH" title="MedGen record for Ciliary dyskinesia, primary, 38">Ciliary dyskinesia, primary, 38</a></span></li><li><span class="TLline"><a href="/medgen/1646059" ref="tree=MeSH" title="MedGen record for Kartagener syndrome">Kartagener syndrome</a></span></li><li><span class="TLline"><a href="/medgen/338258" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 2">Primary ciliary dyskinesia 2</a></span></li><li><span class="TLline"><a href="/medgen/325210" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 3">Primary ciliary dyskinesia 3</a></span></li><li><span class="TLline"><a href="/medgen/324841" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 4">Primary ciliary dyskinesia 4</a></span></li><li><span class="TLline"><a href="/medgen/324840" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 5">Primary ciliary dyskinesia 5</a></span></li><li><span class="TLline"><a href="/medgen/370930" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 6">Primary ciliary dyskinesia 6</a></span></li><li><span class="TLline"><a href="/medgen/394834" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 7">Primary ciliary dyskinesia 7</a></span></li><li><span class="TLline"><a href="/medgen/393653" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 8">Primary ciliary dyskinesia 8</a></span></li><li><span class="TLline"><a href="/medgen/390990" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 9">Primary ciliary dyskinesia 9</a></span></li><li><span class="TLline"><a href="/medgen/382707" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 10">Primary ciliary dyskinesia 10</a></span></li><li><span class="TLline"><a href="/medgen/390741" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 11">Primary ciliary dyskinesia 11</a></span></li><li><span class="TLline"><a href="/medgen/436379" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 12">Primary ciliary dyskinesia 12</a></span></li><li><span class="TLline"><a href="/medgen/413399" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 13">Primary ciliary dyskinesia 13</a></span></li><li><span class="TLline"><a href="/medgen/462486" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 14">Primary ciliary dyskinesia 14</a></span></li><li><span class="TLline"><a href="/medgen/462487" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 15">Primary ciliary dyskinesia 15</a></span></li><li><span class="TLline"><a href="/medgen/462810" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 16">Primary ciliary dyskinesia 16</a></span></li><li><span class="TLline"><a href="/medgen/762261" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 17">Primary ciliary dyskinesia 17</a></span></li><li><span class="TLline"><a href="/medgen/762331" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 18">Primary ciliary dyskinesia 18</a></span></li><li><span class="TLline"><a href="/medgen/762332" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 19">Primary ciliary dyskinesia 19</a></span></li><li><span class="TLline"><a href="/medgen/761920" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 20">Primary ciliary dyskinesia 20</a></span></li><li><span class="TLline"><a href="/medgen/815417" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 21">Primary ciliary dyskinesia 21</a></span></li><li><span class="TLline"><a href="/medgen/815873" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 22">Primary ciliary dyskinesia 22</a></span></li><li><span class="TLline"><a href="/medgen/815878" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 23">Primary ciliary dyskinesia 23</a></span></li><li><span class="TLline"><a href="/medgen/815964" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 24">Primary ciliary dyskinesia 24</a></span></li><li><span class="TLline"><a href="/medgen/815971" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 25">Primary ciliary dyskinesia 25</a></span></li><li><span class="TLline"><a href="/medgen/816014" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 26">Primary ciliary dyskinesia 26</a></span></li><li><span class="TLline"><a href="/medgen/816031" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 27">Primary ciliary dyskinesia 27</a></span></li><li><span class="TLline"><a href="/medgen/816036" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 28">Primary ciliary dyskinesia 28</a></span></li><li><span class="TLline"><a href="/medgen/862971" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 29">Primary ciliary dyskinesia 29</a></span></li><li><span class="TLline"><a href="/medgen/863453" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 30">Primary ciliary dyskinesia 30</a></span></li><li><span class="TLline"><a href="/medgen/896106" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 32">Primary ciliary dyskinesia 32</a></span></li><li><span class="TLline"><a href="/medgen/898734" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 33">Primary ciliary dyskinesia 33</a></span></li><li><span class="TLline"><a href="/medgen/934689" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 34">Primary ciliary dyskinesia 34</a></span></li><li><span class="TLline"><a href="/medgen/934688" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 35">Primary ciliary dyskinesia 35</a></span></li><li><span class="TLline"><a href="/medgen/340938" ref="tree=MeSH" title="MedGen record for Stromme syndrome">Stromme syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/762199" ref="tree=MeSH" title="MedGen record for Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome">Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/42458" ref="tree=MeSH" title="MedGen record for Von Hippel-Lindau syndrome">Von Hippel-Lindau syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/40363" ref="tree=MeSH" title="MedGen record for Cockayne syndrome">Cockayne syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/155488" ref="tree=MeSH" title="MedGen record for Cockayne syndrome type 1">Cockayne syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/155487" ref="tree=MeSH" title="MedGen record for Cockayne syndrome type 2">Cockayne syndrome type 2</a></span></li><li><span class="TLline"><a href="/medgen/196713" ref="tree=MeSH" title="MedGen record for Cockayne syndrome type 3">Cockayne syndrome type 3</a></span></li><li><span class="TLline"><a href="/medgen/1762238" ref="tree=MeSH" title="MedGen record for COFS syndrome">COFS syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/66320" ref="tree=MeSH" title="MedGen record for Cerebrooculofacioskeletal syndrome 1">Cerebrooculofacioskeletal syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/342798" ref="tree=MeSH" title="MedGen record for Cerebrooculofacioskeletal syndrome 4">Cerebrooculofacioskeletal syndrome 4</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/19841" ref="tree=MeSH" title="MedGen record for Congenital rubella syndrome">Congenital rubella syndrome</a></span></li><li><span class="TLline"><a href="/medgen/108454" ref="tree=MeSH" title="MedGen record for Costello syndrome">Costello syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82692" ref="tree=MeSH" title="MedGen record for Cryptophthalmos syndrome">Cryptophthalmos syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78752" ref="tree=MeSH" title="MedGen record for De Lange syndrome">De Lange syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/315658" ref="tree=MeSH" title="MedGen record for Congenital muscular hypertrophy-cerebral syndrome">Congenital muscular hypertrophy-cerebral syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1645760" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 1">Cornelia de Lange syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/339902" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 3">Cornelia de Lange syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/766431" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 4">Cornelia de Lange syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/763817" ref="tree=MeSH" title="MedGen record for Cornelia de Lange syndrome 5">Cornelia de Lange syndrome 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/408188" ref="tree=MeSH" title="MedGen record for Deaf-Blind Disorders">Deaf-Blind Disorders</a></span><ul><li><span class="TLline"><a href="/medgen/78754" ref="tree=MeSH" title="MedGen record for Usher syndrome">Usher syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/292820" ref="tree=MeSH" title="MedGen record for Usher syndrome type 1">Usher syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/83288" ref="tree=MeSH" title="MedGen record for Usher syndrome type 2">Usher syndrome type 2</a></span></li><li><span class="TLline"><a href="/medgen/339336" ref="tree=MeSH" title="MedGen record for Usher syndrome type 3">Usher syndrome type 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/21923" ref="tree=MeSH" title="MedGen record for Wolfram syndrome">Wolfram syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1641635" ref="tree=MeSH" title="MedGen record for Wolfram syndrome 1">Wolfram syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/347604" ref="tree=MeSH" title="MedGen record for Wolfram syndrome 2">Wolfram syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/325511" ref="tree=MeSH" title="MedGen record for Wolfram syndrome, mitochondrial form">Wolfram syndrome, mitochondrial form</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/4385" ref="tree=MeSH" title="MedGen record for Down syndrome">Down syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/693553" ref="tree=MeSH" title="MedGen record for Translocation Down syndrome">Translocation Down syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/989330" ref="tree=MeSH" title="MedGen record for Mosaic translocation Down syndrome">Mosaic translocation Down syndrome</a></span></li><li><span class="TLline"><a href="/medgen/994147" ref="tree=MeSH" title="MedGen record for Reciprocal translocation down syndrome">Reciprocal translocation down syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1816520" ref="tree=MeSH" title="MedGen record for Robertsonian translocation Down syndrome">Robertsonian translocation Down syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/760825" ref="tree=MeSH" title="MedGen record for Trisomy 21">Trisomy 21</a></span><ul><li><span class="TLline"><a href="/medgen/1624021" ref="tree=MeSH" title="MedGen record for Complete trisomy 21">Complete trisomy 21</a></span></li><li><span class="TLline"><a href="/medgen/419386" ref="tree=MeSH" title="MedGen record for Mosaic trisomy 21">Mosaic trisomy 21</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/8544" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia">Ectodermal dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/395426" ref="tree=MeSH" title="MedGen record for Ackerman syndrome">Ackerman syndrome</a></span></li><li><span class="TLline"><a href="/medgen/87435" ref="tree=MeSH" title="MedGen record for Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes">Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes</a></span></li><li><span class="TLline"><a href="/medgen/167081" ref="tree=MeSH" title="MedGen record for Alopecia - contractures - dwarfism - intellectual disability syndrome">Alopecia - contractures - dwarfism - intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98036" ref="tree=MeSH" title="MedGen record for Amelocerebrohypohidrotic syndrome">Amelocerebrohypohidrotic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/400184" ref="tree=MeSH" title="MedGen record for Ameloonychohypohidrotic syndrome">Ameloonychohypohidrotic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/310309" ref="tree=MeSH" title="MedGen record for Anhidrotic ectodermal dysplasia">Anhidrotic ectodermal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/929406" ref="tree=MeSH" title="MedGen record for Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome">Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98032" ref="tree=MeSH" title="MedGen record for Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome">Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/400148" ref="tree=MeSH" title="MedGen record for Ankyloblepharon filiforme adnatum-cleft palate syndrome">Ankyloblepharon filiforme adnatum-cleft palate syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1666000" ref="tree=MeSH" title="MedGen record for Ankyloblepharon filiforme-imperforate anus syndrome">Ankyloblepharon filiforme-imperforate anus syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/400144" ref="tree=MeSH" title="MedGen record for Anonychia with flexural pigmentation">Anonychia with flexural pigmentation</a></span></li><li><span class="TLline"><a href="/medgen/340124" ref="tree=MeSH" title="MedGen record for Arrhythmogenic cardiomyopathy with wooly hair and keratoderma">Arrhythmogenic cardiomyopathy with wooly hair and keratoderma</a></span></li><li><span class="TLline"><a href="/medgen/1674099" ref="tree=MeSH" title="MedGen record for Arthrogryposis-ectodermal dysplasia-other anomalies syndrome">Arthrogryposis-ectodermal dysplasia-other anomalies syndrome</a></span></li><li><span class="TLline"><a href="/medgen/930338" ref="tree=MeSH" title="MedGen record for Autosomal dominant palmoplantar keratoderma and congenital alopecia">Autosomal dominant palmoplantar keratoderma and congenital alopecia</a></span></li><li><span class="TLline"><a href="/medgen/96067" ref="tree=MeSH" title="MedGen record for Autosomal recessive hypohidrotic ectodermal dysplasia syndrome">Autosomal recessive hypohidrotic ectodermal dysplasia syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/854356" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive">Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/761671" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive">Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/1680605" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia 15, hypohidrotic/hair type">Ectodermal dysplasia 15, hypohidrotic/hair type</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/347851" ref="tree=MeSH" title="MedGen record for Autosomal recessive palmoplantar keratoderma and congenital alopecia">Autosomal recessive palmoplantar keratoderma and congenital alopecia</a></span></li><li><span class="TLline"><a href="/medgen/230818" ref="tree=MeSH" title="MedGen record for Barber-Say syndrome">Barber-Say syndrome</a></span></li><li><span class="TLline"><a href="/medgen/337894" ref="tree=MeSH" title="MedGen record for Bartsocas-Papas syndrome 1">Bartsocas-Papas syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/349302" ref="tree=MeSH" title="MedGen record for Blepharocheilodontic syndrome">Blepharocheilodontic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/266149" ref="tree=MeSH" title="MedGen record for Cardio-facio-cutaneous syndrome">Cardio-facio-cutaneous syndrome</a></span></li><li><span class="TLline"><a href="/medgen/167117" ref="tree=MeSH" title="MedGen record for Cataract-hypertrichosis-intellectual disability syndrome">Cataract-hypertrichosis-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/347850" ref="tree=MeSH" title="MedGen record for Cerebellar ataxia-ectodermal dysplasia syndrome">Cerebellar ataxia-ectodermal dysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/341214" ref="tree=MeSH" title="MedGen record for CHIME syndrome">CHIME syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1641815" ref="tree=MeSH" title="MedGen record for Chondroectodermal dysplasia with night blindness">Chondroectodermal dysplasia with night blindness</a></span></li><li><span class="TLline"><a href="/medgen/419316" ref="tree=MeSH" title="MedGen record for Choroidal atrophy-alopecia syndrome">Choroidal atrophy-alopecia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/444067" ref="tree=MeSH" title="MedGen record for Cleft lip/palate-ectodermal dysplasia syndrome">Cleft lip/palate-ectodermal dysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/347428" ref="tree=MeSH" title="MedGen record for Conductive deafness-ptosis-skeletal anomalies syndrome">Conductive deafness-ptosis-skeletal anomalies syndrome</a></span></li><li><span class="TLline"><a href="/medgen/316921" ref="tree=MeSH" title="MedGen record for Congenital hypotrichosis with juvenile macular dystrophy">Congenital hypotrichosis with juvenile macular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/375546" ref="tree=MeSH" title="MedGen record for Contractures-ectodermal dysplasia-cleft lip/palate syndrome">Contractures-ectodermal dysplasia-cleft lip/palate syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1641011" ref="tree=MeSH" title="MedGen record for Cranioectodermal dysplasia">Cranioectodermal dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/96586" ref="tree=MeSH" title="MedGen record for Cranioectodermal dysplasia 1">Cranioectodermal dysplasia 1</a></span></li><li><span class="TLline"><a href="/medgen/462224" ref="tree=MeSH" title="MedGen record for Cranioectodermal dysplasia 2">Cranioectodermal dysplasia 2</a></span></li><li><span class="TLline"><a href="/medgen/481437" ref="tree=MeSH" title="MedGen record for Cranioectodermal dysplasia 3">Cranioectodermal dysplasia 3</a></span></li><li><span class="TLline"><a href="/medgen/482246" ref="tree=MeSH" title="MedGen record for Cranioectodermal dysplasia 4">Cranioectodermal dysplasia 4</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/129128" ref="tree=MeSH" title="MedGen record for Cronkhite-Canada syndrome">Cronkhite-Canada syndrome</a></span></li><li><span class="TLline"><a href="/medgen/335923" ref="tree=MeSH" title="MedGen record for Curly hair - acral keratoderma - caries syndrome">Curly hair - acral keratoderma - caries syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98035" ref="tree=MeSH" title="MedGen record for Curly hair, ankyloblepharon, nail dysplasia syndrome">Curly hair, ankyloblepharon, nail dysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/141594" ref="tree=MeSH" title="MedGen record for Curry-Hall syndrome">Curry-Hall syndrome</a></span></li><li><span class="TLline"><a href="/medgen/383693" ref="tree=MeSH" title="MedGen record for Dahlberg-Borer-Newcomer syndrome">Dahlberg-Borer-Newcomer syndrome</a></span></li><li><span class="TLline"><a href="/medgen/343498" ref="tree=MeSH" title="MedGen record for Deafness, enamel hypoplasia, nail defect syndrome">Deafness, enamel hypoplasia, nail defect syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1647369" ref="tree=MeSH" title="MedGen record for Heimler syndrome 1">Heimler syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/903520" ref="tree=MeSH" title="MedGen record for Heimler syndrome 2">Heimler syndrome 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/419158" ref="tree=MeSH" title="MedGen record for Dennis-Fairhurst-Moore syndrome">Dennis-Fairhurst-Moore syndrome</a></span></li><li><span class="TLline"><a href="/medgen/341742" ref="tree=MeSH" title="MedGen record for Dermatoosteolysis, Kirghizian type">Dermatoosteolysis, Kirghizian type</a></span></li><li><span class="TLline"><a href="/medgen/98037" ref="tree=MeSH" title="MedGen record for Dermatopathia pigmentosa reticularis">Dermatopathia pigmentosa reticularis</a></span></li><li><span class="TLline"><a href="/medgen/377602" ref="tree=MeSH" title="MedGen record for Dermo-odonto dysplasia">Dermo-odonto dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1672480" ref="tree=MeSH" title="MedGen record for Dermotrichic syndrome">Dermotrichic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/59797" ref="tree=MeSH" title="MedGen record for Dubowitz syndrome">Dubowitz syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78580" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita">Dyskeratosis congenita</a></span><ul><li><span class="TLline"><a href="/medgen/502504" ref="tree=MeSH" title="MedGen record for Autosomal recessive dyskeratosis congenita">Autosomal recessive dyskeratosis congenita</a></span></li><li><span class="TLline"><a href="/medgen/462794" ref="tree=MeSH" title="MedGen record for Autosomal recessive dyskeratosis congenita 4">Autosomal recessive dyskeratosis congenita 4</a></span></li><li><span class="TLline"><a href="/medgen/1645250" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 1">Dyskeratosis congenita, autosomal dominant 1</a></span></li><li><span class="TLline"><a href="/medgen/462793" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 2">Dyskeratosis congenita, autosomal dominant 2</a></span></li><li><span class="TLline"><a href="/medgen/462795" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 3">Dyskeratosis congenita, autosomal dominant 3</a></span></li><li><span class="TLline"><a href="/medgen/904824" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal dominant 6">Dyskeratosis congenita, autosomal dominant 6</a></span></li><li><span class="TLline"><a href="/medgen/341705" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 1">Dyskeratosis congenita, autosomal recessive 1</a></span></li><li><span class="TLline"><a href="/medgen/462791" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 2">Dyskeratosis congenita, autosomal recessive 2</a></span></li><li><span class="TLline"><a href="/medgen/462792" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 3">Dyskeratosis congenita, autosomal recessive 3</a></span></li><li><span class="TLline"><a href="/medgen/767570" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 5">Dyskeratosis congenita, autosomal recessive 5</a></span></li><li><span class="TLline"><a href="/medgen/905452" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, autosomal recessive 6">Dyskeratosis congenita, autosomal recessive 6</a></span></li><li><span class="TLline"><a href="/medgen/216941" ref="tree=MeSH" title="MedGen record for Dyskeratosis congenita, X-linked">Dyskeratosis congenita, X-linked</a></span></li><li><span class="TLline"><a href="/medgen/231230" ref="tree=MeSH" title="MedGen record for Revesz syndrome">Revesz syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/764338" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia 8, hair/tooth/nail type">Ectodermal dysplasia 8, hair/tooth/nail type</a></span></li><li><span class="TLline"><a href="/medgen/375786" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia and immune deficiency">Ectodermal dysplasia and immune deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/375787" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia and immunodeficiency 1">Ectodermal dysplasia and immunodeficiency 1</a></span></li><li><span class="TLline"><a href="/medgen/394295" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia and immunodeficiency 2">Ectodermal dysplasia and immunodeficiency 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/371331" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia with natal teeth, Turnpenny type">Ectodermal dysplasia with natal teeth, Turnpenny type</a></span></li><li><span class="TLline"><a href="/medgen/314095" ref="tree=MeSH" title="MedGen record for Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant">Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant</a></span></li><li><span class="TLline"><a href="/medgen/338798" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia, trichoodontoonychial type">Ectodermal dysplasia, trichoodontoonychial type</a></span></li><li><span class="TLline"><a href="/medgen/340297" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia-blindness syndrome">Ectodermal dysplasia-blindness syndrome</a></span></li><li><span class="TLline"><a href="/medgen/462159" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia-cutaneous syndactyly syndrome">Ectodermal dysplasia-cutaneous syndactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/347363" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome">Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome</a></span></li><li><span class="TLline"><a href="/medgen/346503" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia-sensorineural deafness syndrome">Ectodermal dysplasia-sensorineural deafness syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1648397" ref="tree=MeSH" title="MedGen record for Ectodermal dysplasia-syndactyly syndrome">Ectodermal dysplasia-syndactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98357" ref="tree=MeSH" title="MedGen record for Ectrodactyly-ectodermal dysplasia-clefting syndrome">Ectrodactyly-ectodermal dysplasia-clefting syndrome</a></span></li><li><span class="TLline"><a href="/medgen/341679" ref="tree=MeSH" title="MedGen record for EEM syndrome">EEM syndrome</a></span></li><li><span class="TLline"><a href="/medgen/8584" ref="tree=MeSH" title="MedGen record for Ellis-van Creveld syndrome">Ellis-van Creveld syndrome</a></span></li><li><span class="TLline"><a href="/medgen/388032" ref="tree=MeSH" title="MedGen record for Epidermolysis bullosa simplex due to plakophilin deficiency">Epidermolysis bullosa simplex due to plakophilin deficiency</a></span></li><li><span class="TLline"><a href="/medgen/42055" ref="tree=MeSH" title="MedGen record for Focal dermal hypoplasia">Focal dermal hypoplasia</a></span></li><li><span class="TLline"><a href="/medgen/445408" ref="tree=MeSH" title="MedGen record for Focal facial dermal dysplasia">Focal facial dermal dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/1718224" ref="tree=MeSH" title="MedGen record for Focal facial dermal dysplasia type I">Focal facial dermal dysplasia type I</a></span></li><li><span class="TLline"><a href="/medgen/767159" ref="tree=MeSH" title="MedGen record for Focal facial dermal dysplasia type II">Focal facial dermal dysplasia type II</a></span></li><li><span class="TLline"><a href="/medgen/315643" ref="tree=MeSH" title="MedGen record for Focal facial dermal dysplasia type III">Focal facial dermal dysplasia type III</a></span></li><li><span class="TLline"><a href="/medgen/767160" ref="tree=MeSH" title="MedGen record for Focal facial dermal dysplasia type IV">Focal facial dermal dysplasia type IV</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/394125" ref="tree=MeSH" title="MedGen record for Fontaine progeroid syndrome">Fontaine progeroid syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98034" ref="tree=MeSH" title="MedGen record for GAPO syndrome">GAPO syndrome</a></span></li><li><span class="TLline"><a href="/medgen/342675" ref="tree=MeSH" title="MedGen record for Gingival fibromatosis-hypertrichosis syndrome">Gingival fibromatosis-hypertrichosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/5414" ref="tree=MeSH" title="MedGen record for Hallermann-Streiff syndrome">Hallermann-Streiff syndrome</a></span></li><li><span class="TLline"><a href="/medgen/56416" ref="tree=MeSH" title="MedGen record for Hidrotic ectodermal dysplasia syndrome">Hidrotic ectodermal dysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/371322" ref="tree=MeSH" title="MedGen record for Hidrotic ectodermal dysplasia, Christianson-Fourie type">Hidrotic ectodermal dysplasia, Christianson-Fourie type</a></span></li><li><span class="TLline"><a href="/medgen/443941" ref="tree=MeSH" title="MedGen record for Hidrotic ectodermal dysplasia, Halal type">Hidrotic ectodermal dysplasia, Halal type</a></span></li><li><span class="TLline"><a href="/medgen/99140" ref="tree=MeSH" title="MedGen record for Hyperhidrosis, premature cavities and premolar aplasia">Hyperhidrosis, premature cavities and premolar aplasia</a></span></li><li><span class="TLline"><a href="/medgen/870835" ref="tree=MeSH" title="MedGen record for Hypertrichosis cubiti-short stature syndrome">Hypertrichosis cubiti-short stature syndrome</a></span></li><li><span class="TLline"><a href="/medgen/66727" ref="tree=MeSH" title="MedGen record for Hypertrichosis lanuginosa congenita">Hypertrichosis lanuginosa congenita</a></span><ul><li><span class="TLline"><a href="/medgen/333542" ref="tree=MeSH" title="MedGen record for Ambras type hypertrichosis universalis congenita">Ambras type hypertrichosis universalis congenita</a></span></li><li><span class="TLline"><a href="/medgen/1856186" ref="tree=MeSH" title="MedGen record for X-linked congenital generalized hypertrichosis">X-linked congenital generalized hypertrichosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1853123" ref="tree=MeSH" title="MedGen record for Hypohidrotic ectodermal dysplasia">Hypohidrotic ectodermal dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/539190" ref="tree=MeSH" title="MedGen record for Autosomal dominant hypohidrotic ectodermal dysplasia">Autosomal dominant hypohidrotic ectodermal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/468426" ref="tree=MeSH" title="MedGen record for Autosomal hypohidrotic ectodermal dysplasia">Autosomal hypohidrotic ectodermal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/57890" ref="tree=MeSH" title="MedGen record for Hypohidrotic X-linked ectodermal dysplasia">Hypohidrotic X-linked ectodermal dysplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/384046" ref="tree=MeSH" title="MedGen record for Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome">Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/140809" ref="tree=MeSH" title="MedGen record for Hypoplastic enamel-onycholysis-hypohidrosis syndrome">Hypoplastic enamel-onycholysis-hypohidrosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1371854" ref="tree=MeSH" title="MedGen record for Hypotrichosis-intellectual disability, Lopes type">Hypotrichosis-intellectual disability, Lopes type</a></span></li><li><span class="TLline"><a href="/medgen/375146" ref="tree=MeSH" title="MedGen record for Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome">Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome</a></span></li><li><span class="TLline"><a href="/medgen/344577" ref="tree=MeSH" title="MedGen record for Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome">Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/7049" ref="tree=MeSH" title="MedGen record for Incontinentia pigmenti syndrome">Incontinentia pigmenti syndrome</a></span></li><li><span class="TLline"><a href="/medgen/59798" ref="tree=MeSH" title="MedGen record for Johanson-Blizzard syndrome">Johanson-Blizzard syndrome</a></span></li><li><span class="TLline"><a href="/medgen/167092" ref="tree=MeSH" title="MedGen record for Johnson neuroectodermal syndrome">Johnson neuroectodermal syndrome</a></span></li><li><span class="TLline"><a href="/medgen/777082" ref="tree=MeSH" title="MedGen record for Keratitis ichthyosis and deafness syndrome">Keratitis ichthyosis and deafness syndrome</a></span></li><li><span class="TLline"><a href="/medgen/334042" ref="tree=MeSH" title="MedGen record for Lelis syndrome">Lelis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/383698" ref="tree=MeSH" title="MedGen record for Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome">Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1806249" ref="tree=MeSH" title="MedGen record for Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies">Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies</a></span></li><li><span class="TLline"><a href="/medgen/82694" ref="tree=MeSH" title="MedGen record for Marshall syndrome">Marshall syndrome</a></span></li><li><span class="TLline"><a href="/medgen/67398" ref="tree=MeSH" title="MedGen record for Metaphyseal chondrodysplasia, McKusick type">Metaphyseal chondrodysplasia, McKusick type</a></span></li><li><span class="TLline"><a href="/medgen/91010" ref="tree=MeSH" title="MedGen record for Naegeli-Franceschetti-Jadassohn syndrome">Naegeli-Franceschetti-Jadassohn syndrome</a></span></li><li><span class="TLline"><a href="/medgen/863424" ref="tree=MeSH" title="MedGen record for Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome">Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82706" ref="tree=MeSH" title="MedGen record for Neurocutaneous syndrome">Neurocutaneous syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/439" ref="tree=MeSH" title="MedGen record for Ataxia-telangiectasia syndrome">Ataxia-telangiectasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/2554" ref="tree=MeSH" title="MedGen record for Gorlin syndrome">Gorlin syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1646345" ref="tree=MeSH" title="MedGen record for Linear nevus sebaceous syndrome">Linear nevus sebaceous syndrome</a></span></li><li><span class="TLline"><a href="/medgen/58149" ref="tree=MeSH" title="MedGen record for Neurofibromatosis">Neurofibromatosis</a></span></li><li><span class="TLline"><a href="/medgen/21361" ref="tree=MeSH" title="MedGen record for Sturge-Weber syndrome">Sturge-Weber syndrome</a></span></li><li><span class="TLline"><a href="/medgen/22518" ref="tree=MeSH" title="MedGen record for Tuberous sclerosis syndrome">Tuberous sclerosis syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/167236" ref="tree=MeSH" title="MedGen record for Oculodentodigital dysplasia">Oculodentodigital dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/347867" ref="tree=MeSH" title="MedGen record for Oculoosteocutaneous syndrome">Oculoosteocutaneous syndrome</a></span></li><li><span class="TLline"><a href="/medgen/340517" ref="tree=MeSH" title="MedGen record for Oculotrichodysplasia">Oculotrichodysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1648007" ref="tree=MeSH" title="MedGen record for Odonto-onycho dysplasia-alopecia syndrome">Odonto-onycho dysplasia-alopecia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/208666" ref="tree=MeSH" title="MedGen record for Odonto-onycho-dermal dysplasia">Odonto-onycho-dermal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/400891" ref="tree=MeSH" title="MedGen record for Odonto-tricho-ungual-digito-palmar syndrome">Odonto-tricho-ungual-digito-palmar syndrome</a></span></li><li><span class="TLline"><a href="/medgen/443944" ref="tree=MeSH" title="MedGen record for Odontotrichomelic syndrome">Odontotrichomelic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/307142" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome I">Orofaciodigital syndrome I</a></span></li><li><span class="TLline"><a href="/medgen/78556" ref="tree=MeSH" title="MedGen record for Pachyonychia congenita syndrome">Pachyonychia congenita syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/353335" ref="tree=MeSH" title="MedGen record for Pachyonychia congenita 1">Pachyonychia congenita 1</a></span></li><li><span class="TLline"><a href="/medgen/314107" ref="tree=MeSH" title="MedGen record for Pachyonychia congenita 2">Pachyonychia congenita 2</a></span></li><li><span class="TLline"><a href="/medgen/811523" ref="tree=MeSH" title="MedGen record for Pachyonychia congenita 3">Pachyonychia congenita 3</a></span></li><li><span class="TLline"><a href="/medgen/811524" ref="tree=MeSH" title="MedGen record for Pachyonychia congenita 4">Pachyonychia congenita 4</a></span></li><li><span class="TLline"><a href="/medgen/75476" ref="tree=MeSH" title="MedGen record for Steatocystoma multiplex">Steatocystoma multiplex</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/45306" ref="tree=MeSH" title="MedGen record for Papillon-Lefèvre syndrome">Papillon-Lefèvre syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1807813" ref="tree=MeSH" title="MedGen record for Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome">Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419090" ref="tree=MeSH" title="MedGen record for Pili torti-onychodysplasia syndrome">Pili torti-onychodysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/376661" ref="tree=MeSH" title="MedGen record for Pilodental dysplasia-refractive errors syndrome">Pilodental dysplasia-refractive errors syndrome</a></span></li><li><span class="TLline"><a href="/medgen/978375" ref="tree=MeSH" title="MedGen record for Pure hair and nail ectodermal dysplasia">Pure hair and nail ectodermal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/357183" ref="tree=MeSH" title="MedGen record for Scalp-ear-nipple syndrome">Scalp-ear-nipple syndrome</a></span></li><li><span class="TLline"><a href="/medgen/347366" ref="tree=MeSH" title="MedGen record for SchC6pf-Schulz-Passarge syndrome">SchC6pf-Schulz-Passarge syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120517" ref="tree=MeSH" title="MedGen record for Schinzel-Giedion syndrome">Schinzel-Giedion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/342260" ref="tree=MeSH" title="MedGen record for Stern-Lubinsky-Durrie syndrome">Stern-Lubinsky-Durrie syndrome</a></span></li><li><span class="TLline"><a href="/medgen/376472" ref="tree=MeSH" title="MedGen record for Teebi-Shaltout syndrome">Teebi-Shaltout syndrome</a></span></li><li><span class="TLline"><a href="/medgen/348284" ref="tree=MeSH" title="MedGen record for Thumb deformity-alopecia-pigmentation anomaly syndrome">Thumb deformity-alopecia-pigmentation anomaly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/333068" ref="tree=MeSH" title="MedGen record for Toriello-Lacassie-Droste syndrome">Toriello-Lacassie-Droste syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78555" ref="tree=MeSH" title="MedGen record for Tricho-dento-osseous syndrome">Tricho-dento-osseous syndrome</a></span></li><li><span class="TLline"><a href="/medgen/96068" ref="tree=MeSH" title="MedGen record for Trichodental syndrome">Trichodental syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419092" ref="tree=MeSH" title="MedGen record for Trichodermodysplasia-dental alterations syndrome">Trichodermodysplasia-dental alterations syndrome</a></span></li><li><span class="TLline"><a href="/medgen/930013" ref="tree=MeSH" title="MedGen record for Trichodysplasia-amelogenesis imperfecta syndrome">Trichodysplasia-amelogenesis imperfecta syndrome</a></span></li><li><span class="TLline"><a href="/medgen/338532" ref="tree=MeSH" title="MedGen record for Trichomegaly-retina pigmentary degeneration-dwarfism syndrome">Trichomegaly-retina pigmentary degeneration-dwarfism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/481087" ref="tree=MeSH" title="MedGen record for Trichoodontoonychial dysplasia">Trichoodontoonychial dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/363064" ref="tree=MeSH" title="MedGen record for Trichothiodystrophy">Trichothiodystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/355730" ref="tree=MeSH" title="MedGen record for Trichothiodystrophy 1, photosensitive">Trichothiodystrophy 1, photosensitive</a></span></li><li><span class="TLline"><a href="/medgen/905904" ref="tree=MeSH" title="MedGen record for Trichothiodystrophy 2, photosensitive">Trichothiodystrophy 2, photosensitive</a></span></li><li><span class="TLline"><a href="/medgen/865608" ref="tree=MeSH" title="MedGen record for Trichothiodystrophy 3, photosensitive">Trichothiodystrophy 3, photosensitive</a></span></li><li><span class="TLline"><a href="/medgen/272036" ref="tree=MeSH" title="MedGen record for Trichothiodystrophy 4, nonphotosensitive">Trichothiodystrophy 4, nonphotosensitive</a></span></li><li><span class="TLline"><a href="/medgen/1684762" ref="tree=MeSH" title="MedGen record for Trichothiodystrophy 7, nonphotosensitive">Trichothiodystrophy 7, nonphotosensitive</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/348658" ref="tree=MeSH" title="MedGen record for Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome">Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/375148" ref="tree=MeSH" title="MedGen record for Woolly hair-skin fragility syndrome">Woolly hair-skin fragility syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6547" ref="tree=MeSH" title="MedGen record for Gardner syndrome">Gardner syndrome</a></span></li><li><span class="TLline"><a href="/medgen/38214" ref="tree=MeSH" title="MedGen record for Holoprosencephaly sequence">Holoprosencephaly sequence</a></span><ul><li><span class="TLline"><a href="/medgen/78541" ref="tree=MeSH" title="MedGen record for Agnathia-otocephaly complex">Agnathia-otocephaly complex</a></span></li><li><span class="TLline"><a href="/medgen/140909" ref="tree=MeSH" title="MedGen record for Alobar holoprosencephaly">Alobar holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/382704" ref="tree=MeSH" title="MedGen record for Chromosome 1q41-q42 deletion syndrome">Chromosome 1q41-q42 deletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/452352" ref="tree=MeSH" title="MedGen record for Ethmocephaly">Ethmocephaly</a></span></li><li><span class="TLline"><a href="/medgen/335111" ref="tree=MeSH" title="MedGen record for Hartsfield-Bixler-Demyer syndrome">Hartsfield-Bixler-Demyer syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78617" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 1">Holoprosencephaly 1</a></span></li><li><span class="TLline"><a href="/medgen/322517" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 2">Holoprosencephaly 2</a></span></li><li><span class="TLline"><a href="/medgen/327125" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 3">Holoprosencephaly 3</a></span></li><li><span class="TLline"><a href="/medgen/374488" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 4">Holoprosencephaly 4</a></span></li><li><span class="TLline"><a href="/medgen/355304" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 5">Holoprosencephaly 5</a></span></li><li><span class="TLline"><a href="/medgen/342979" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 6">Holoprosencephaly 6</a></span></li><li><span class="TLline"><a href="/medgen/372134" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 7">Holoprosencephaly 7</a></span></li><li><span class="TLline"><a href="/medgen/322873" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 8">Holoprosencephaly 8</a></span></li><li><span class="TLline"><a href="/medgen/324369" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 9">Holoprosencephaly 9</a></span></li><li><span class="TLline"><a href="/medgen/441620" ref="tree=MeSH" title="MedGen record for Holoprosencephaly caudal dysgenesis">Holoprosencephaly caudal dysgenesis</a></span></li><li><span class="TLline"><a href="/medgen/441187" ref="tree=MeSH" title="MedGen record for Holoprosencephaly deletion 2p">Holoprosencephaly deletion 2p</a></span></li><li><span class="TLline"><a href="/medgen/441188" ref="tree=MeSH" title="MedGen record for Holoprosencephaly ectrodactyly cleft lip palate">Holoprosencephaly ectrodactyly cleft lip palate</a></span></li><li><span class="TLline"><a href="/medgen/441189" ref="tree=MeSH" title="MedGen record for Holoprosencephaly radial heart renal anomalies">Holoprosencephaly radial heart renal anomalies</a></span></li><li><span class="TLline"><a href="/medgen/343987" ref="tree=MeSH" title="MedGen record for Holoprosencephaly, recurrent infections, and monocytosis">Holoprosencephaly, recurrent infections, and monocytosis</a></span></li><li><span class="TLline"><a href="/medgen/330464" ref="tree=MeSH" title="MedGen record for Holoprosencephaly-craniosynostosis syndrome">Holoprosencephaly-craniosynostosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/336097" ref="tree=MeSH" title="MedGen record for Holoprosencephaly-hypokinesia-congenital contractures syndrome">Holoprosencephaly-hypokinesia-congenital contractures syndrome</a></span></li><li><span class="TLline"><a href="/medgen/340382" ref="tree=MeSH" title="MedGen record for Holoprosencephaly-postaxial polydactyly syndrome">Holoprosencephaly-postaxial polydactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/343380" ref="tree=MeSH" title="MedGen record for Lambotte syndrome">Lambotte syndrome</a></span></li><li><span class="TLline"><a href="/medgen/96559" ref="tree=MeSH" title="MedGen record for Lobar holoprosencephaly">Lobar holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/798407" ref="tree=MeSH" title="MedGen record for Midline interhemispheric variant of holoprosencephaly">Midline interhemispheric variant of holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/468539" ref="tree=MeSH" title="MedGen record for NODAL-Related Holoprosencephaly">NODAL-Related Holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/199694" ref="tree=MeSH" title="MedGen record for Semilobar holoprosencephaly">Semilobar holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1843386" ref="tree=MeSH" title="MedGen record for Septopreoptic holoprosencephaly">Septopreoptic holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1708682" ref="tree=MeSH" title="MedGen record for Syntelencephaly">Syntelencephaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78578" ref="tree=MeSH" title="MedGen record for Ichthyosis linearis circumflexa">Ichthyosis linearis circumflexa</a></span></li><li><span class="TLline"><a href="/medgen/403467" ref="tree=MeSH" title="MedGen record for Isolated Noncompaction of the Ventricular Myocardium">Isolated Noncompaction of the Ventricular Myocardium</a></span></li><li><span class="TLline"><a href="/medgen/44078" ref="tree=MeSH" title="MedGen record for Laurence-Moon syndrome">Laurence-Moon syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82708" ref="tree=MeSH" title="MedGen record for Leprechaunism syndrome">Leprechaunism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/395827" ref="tree=MeSH" title="MedGen record for Loeys-Dietz syndrome">Loeys-Dietz syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/462437" ref="tree=MeSH" title="MedGen record for Aneurysm-osteoarthritis syndrome">Aneurysm-osteoarthritis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1646567" ref="tree=MeSH" title="MedGen record for Loeys-Dietz syndrome 1">Loeys-Dietz syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/382398" ref="tree=MeSH" title="MedGen record for Loeys-Dietz syndrome 2">Loeys-Dietz syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/766676" ref="tree=MeSH" title="MedGen record for Loeys-Dietz syndrome 4">Loeys-Dietz syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/395828" ref="tree=MeSH" title="MedGen record for Loeys-Dietz Syndrome Type 1">Loeys-Dietz Syndrome Type 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/18145" ref="tree=MeSH" title="MedGen record for Lowe syndrome">Lowe syndrome</a></span></li><li><span class="TLline"><a href="/medgen/44287" ref="tree=MeSH" title="MedGen record for Marfan syndrome">Marfan syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/443966" ref="tree=MeSH" title="MedGen record for Loeys-Dietz Syndrome Type 2">Loeys-Dietz Syndrome Type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82693" ref="tree=MeSH" title="MedGen record for Melnick-Fraser syndrome">Melnick-Fraser syndrome</a></span></li><li><span class="TLline"><a href="/medgen/10257" ref="tree=MeSH" title="MedGen record for Nail-patella syndrome">Nail-patella syndrome</a></span></li><li><span class="TLline"><a href="/medgen/104494" ref="tree=MeSH" title="MedGen record for Noonan syndrome with multiple lentigines">Noonan syndrome with multiple lentigines</a></span><ul><li><span class="TLline"><a href="/medgen/1631694" ref="tree=MeSH" title="MedGen record for LEOPARD syndrome 1">LEOPARD syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/370588" ref="tree=MeSH" title="MedGen record for LEOPARD syndrome 2">LEOPARD syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/462321" ref="tree=MeSH" title="MedGen record for LEOPARD syndrome 3">LEOPARD syndrome 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/14518" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome">Orofaciodigital syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/10077" ref="tree=MeSH" title="MedGen record for Mohr syndrome">Mohr syndrome</a></span></li><li><span class="TLline"><a href="/medgen/96069" ref="tree=MeSH" title="MedGen record for Orofacial-digital syndrome III">Orofacial-digital syndrome III</a></span></li><li><span class="TLline"><a href="/medgen/98358" ref="tree=MeSH" title="MedGen record for Orofacial-digital syndrome IV">Orofacial-digital syndrome IV</a></span></li><li><span class="TLline"><a href="/medgen/162908" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome IX">Orofaciodigital syndrome IX</a></span></li><li><span class="TLline"><a href="/medgen/411200" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome type 6">Orofaciodigital syndrome type 6</a></span></li><li><span class="TLline"><a href="/medgen/420948" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome type 12">Orofaciodigital syndrome type 12</a></span></li><li><span class="TLline"><a href="/medgen/420203" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome type 13">Orofaciodigital syndrome type 13</a></span></li><li><span class="TLline"><a href="/medgen/1635470" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome type 14">Orofaciodigital syndrome type 14</a></span></li><li><span class="TLline"><a href="/medgen/358131" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome V">Orofaciodigital syndrome V</a></span></li><li><span class="TLline"><a href="/medgen/208667" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome VIII">Orofaciodigital syndrome VIII</a></span></li><li><span class="TLline"><a href="/medgen/322280" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome X">Orofaciodigital syndrome X</a></span></li><li><span class="TLline"><a href="/medgen/416694" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome XI">Orofaciodigital syndrome XI</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/66357" ref="tree=MeSH" title="MedGen record for Oromandibular-limb hypogenesis spectrum">Oromandibular-limb hypogenesis spectrum</a></span></li><li><span class="TLline"><a href="/medgen/120514" ref="tree=MeSH" title="MedGen record for Pallister-Hall syndrome">Pallister-Hall syndrome</a></span></li><li><span class="TLline"><a href="/medgen/107540" ref="tree=MeSH" title="MedGen record for Pentalogy of Cantrell">Pentalogy of Cantrell</a></span></li><li><span class="TLline"><a href="/medgen/39276" ref="tree=MeSH" title="MedGen record for POEMS syndrome">POEMS syndrome</a></span></li><li><span class="TLline"><a href="/medgen/46057" ref="tree=MeSH" title="MedGen record for Prader-Willi syndrome">Prader-Willi syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1826086" ref="tree=MeSH" title="MedGen record for Prader-Willi syndrome due to imprinting mutation">Prader-Willi syndrome due to imprinting mutation</a></span></li><li><span class="TLline"><a href="/medgen/1826079" ref="tree=MeSH" title="MedGen record for Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15">Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15</a></span></li><li><span class="TLline"><a href="/medgen/1826129" ref="tree=MeSH" title="MedGen record for Prader-Willi syndrome due to paternal 15q11q13 deletion">Prader-Willi syndrome due to paternal 15q11q13 deletion</a></span></li><li><span class="TLline"><a href="/medgen/1826085" ref="tree=MeSH" title="MedGen record for Prader-Willi syndrome due to translocation">Prader-Willi syndrome due to translocation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/120647" ref="tree=MeSH" title="MedGen record for Prolidase deficiency">Prolidase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/39008" ref="tree=MeSH" title="MedGen record for Proteus syndrome">Proteus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/18718" ref="tree=MeSH" title="MedGen record for Prune belly syndrome">Prune belly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/48517" ref="tree=MeSH" title="MedGen record for Rubinstein-Taybi syndrome">Rubinstein-Taybi syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/350477" ref="tree=MeSH" title="MedGen record for Rubinstein-Taybi syndrome due to 16p13.3 microdeletion">Rubinstein-Taybi syndrome due to 16p13.3 microdeletion</a></span></li><li><span class="TLline"><a href="/medgen/1639327" ref="tree=MeSH" title="MedGen record for Rubinstein-Taybi syndrome due to CREBBP mutations">Rubinstein-Taybi syndrome due to CREBBP mutations</a></span></li><li><span class="TLline"><a href="/medgen/462291" ref="tree=MeSH" title="MedGen record for Rubinstein-Taybi syndrome due to EP300 haploinsufficiency">Rubinstein-Taybi syndrome due to EP300 haploinsufficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/104492" ref="tree=MeSH" title="MedGen record for Russell-Silver syndrome">Russell-Silver syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1718472" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome 1">Silver-Russell syndrome 1</a></span><ul><li><span class="TLline"><a href="/medgen/1826102" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to an imprinting defect of 11p15">Silver-Russell syndrome due to an imprinting defect of 11p15</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1714148" ref="tree=MeSH" title="MedGen record for Silver-russell syndrome 2">Silver-russell syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/894912" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome 3">Silver-Russell syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/1712866" ref="tree=MeSH" title="MedGen record for Silver-russell syndrome 4">Silver-russell syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/1713787" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome 5">Silver-Russell syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/1826103" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to 11p15 microduplication">Silver-Russell syndrome due to 11p15 microduplication</a></span></li><li><span class="TLline"><a href="/medgen/1826059" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to 7p11.2p13 microduplication">Silver-Russell syndrome due to 7p11.2p13 microduplication</a></span></li><li><span class="TLline"><a href="/medgen/1843388" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to a point mutation">Silver-Russell syndrome due to a point mutation</a></span></li><li><span class="TLline"><a href="/medgen/1826074" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7">Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7</a></span></li><li><span class="TLline"><a href="/medgen/1843295" ref="tree=MeSH" title="MedGen record for Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11">Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/11412" ref="tree=MeSH" title="MedGen record for Short rib-polydactyly syndrome">Short rib-polydactyly syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/19860" ref="tree=MeSH" title="MedGen record for Asphyxiating thoracic dystrophy 3">Asphyxiating thoracic dystrophy 3</a></span></li><li><span class="TLline"><a href="/medgen/78548" ref="tree=MeSH" title="MedGen record for Jeune thoracic dystrophy">Jeune thoracic dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/1648057" ref="tree=MeSH" title="MedGen record for Asphyxiating thoracic dystrophy 1">Asphyxiating thoracic dystrophy 1</a></span></li><li><span class="TLline"><a href="/medgen/370804" ref="tree=MeSH" title="MedGen record for Asphyxiating thoracic dystrophy 2">Asphyxiating thoracic dystrophy 2</a></span></li><li><span class="TLline"><a href="/medgen/462535" ref="tree=MeSH" title="MedGen record for Asphyxiating thoracic dystrophy 4">Asphyxiating thoracic dystrophy 4</a></span></li><li><span class="TLline"><a href="/medgen/482228" ref="tree=MeSH" title="MedGen record for Asphyxiating thoracic dystrophy 5">Asphyxiating thoracic dystrophy 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1371401" ref="tree=MeSH" title="MedGen record for Joubert syndrome with Jeune asphyxiating thoracic dystrophy">Joubert syndrome with Jeune asphyxiating thoracic dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/988414" ref="tree=MeSH" title="MedGen record for Short rib-polydactyly syndrome, Majewski type">Short rib-polydactyly syndrome, Majewski type</a></span><ul><li><span class="TLline"><a href="/medgen/44252" ref="tree=MeSH" title="MedGen record for Short-rib thoracic dysplasia 6 with or without polydactyly">Short-rib thoracic dysplasia 6 with or without polydactyly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/481422" ref="tree=MeSH" title="MedGen record for Short-rib thoracic dysplasia 7 with or without polydactyly">Short-rib thoracic dysplasia 7 with or without polydactyly</a></span></li><li><span class="TLline"><a href="/medgen/96578" ref="tree=MeSH" title="MedGen record for Type IV short rib polydactyly syndrome">Type IV short rib polydactyly syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/61231" ref="tree=MeSH" title="MedGen record for Smith-Lemli-Opitz syndrome">Smith-Lemli-Opitz syndrome</a></span></li><li><span class="TLline"><a href="/medgen/162881" ref="tree=MeSH" title="MedGen record for Smith-Magenis syndrome">Smith-Magenis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/61232" ref="tree=MeSH" title="MedGen record for Sotos syndrome">Sotos syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1379406" ref="tree=MeSH" title="MedGen record for Trisomy 13 Syndromes">Trisomy 13 Syndromes</a></span></li><li><span class="TLline"><a href="/medgen/1384417" ref="tree=MeSH" title="MedGen record for Trisomy 18">Trisomy 18</a></span></li><li><span class="TLline"><a href="/medgen/465273" ref="tree=MeSH" title="MedGen record for Visceral heterotaxy">Visceral heterotaxy</a></span><ul><li><span class="TLline"><a href="/medgen/4255" ref="tree=MeSH" title="MedGen record for Dextrocardia">Dextrocardia</a></span></li><li><span class="TLline"><a href="/medgen/75620" ref="tree=MeSH" title="MedGen record for Heterotaxy">Heterotaxy</a></span><ul><li><span class="TLline"><a href="/medgen/868855" ref="tree=MeSH" title="MedGen record for Abnormality of abdominal situs">Abnormality of abdominal situs</a></span></li><li><span class="TLline"><a href="/medgen/1634559" ref="tree=MeSH" title="MedGen record for Isomerism">Isomerism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/465274" ref="tree=MeSH" title="MedGen record for Right atrial isomerism">Right atrial isomerism</a></span></li><li><span class="TLline"><a href="/medgen/1642262" ref="tree=MeSH" title="MedGen record for Situs inversus">Situs inversus</a></span></li><li><span class="TLline"><a href="/medgen/7331" ref="tree=MeSH" title="MedGen record for Situs inversus with levocardia">Situs inversus with levocardia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/473809" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome">Waardenburg syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/376211" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 1">Waardenburg syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/398443" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 2">Waardenburg syndrome type 2</a></span><ul><li><span class="TLline"><a href="/medgen/349786" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 2A">Waardenburg syndrome type 2A</a></span></li><li><span class="TLline"><a href="/medgen/373973" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 2B">Waardenburg syndrome type 2B</a></span></li><li><span class="TLline"><a href="/medgen/335755" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 2C">Waardenburg syndrome type 2C</a></span></li><li><span class="TLline"><a href="/medgen/323102" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 2D">Waardenburg syndrome type 2D</a></span></li><li><span class="TLline"><a href="/medgen/398476" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 2E">Waardenburg syndrome type 2E</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/86948" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 3">Waardenburg syndrome type 3</a></span></li><li><span class="TLline"><a href="/medgen/341244" ref="tree=MeSH" title="MedGen record for Waardenburg syndrome type 4A">Waardenburg syndrome type 4A</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82705" ref="tree=MeSH" title="MedGen record for Weill-Marchesani syndrome">Weill-Marchesani syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/416383" ref="tree=MeSH" title="MedGen record for Weill-Marchesani 4 syndrome, recessive">Weill-Marchesani 4 syndrome, recessive</a></span></li><li><span class="TLline"><a href="/medgen/1637058" ref="tree=MeSH" title="MedGen record for Weill-Marchesani syndrome 1">Weill-Marchesani syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/766699" ref="tree=MeSH" title="MedGen record for Weill-Marchesani syndrome 3">Weill-Marchesani syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/358388" ref="tree=MeSH" title="MedGen record for Weill-Marchesani syndrome 2, dominant">Weill-Marchesani syndrome 2, dominant</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/21958" ref="tree=MeSH" title="MedGen record for Zellweger spectrum disorders">Zellweger spectrum disorders</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></div></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/31690835">Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Riggs ER,
|
||
Andersen EF,
|
||
Cherry AM,
|
||
Kantarci S,
|
||
Kearney H,
|
||
Patel A,
|
||
Raca G,
|
||
Ritter DI,
|
||
South ST,
|
||
Thorland EC,
|
||
Pineda-Alvarez D,
|
||
Aradhya S,
|
||
Martin CL</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2020 Feb;22(2):245-257.
|
||
Epub 2019 Nov 6
|
||
doi: 10.1038/s41436-019-0686-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31690835" target="_blank">31690835</a><a href="/pmc/articles/PMC7313390" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31618753">Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ziats MN,
|
||
Ahmad A,
|
||
Bernat JA,
|
||
Fisher R,
|
||
Glassford M,
|
||
Hannibal MC,
|
||
Jacher JE,
|
||
Weiser N,
|
||
Keegan CE,
|
||
Lee KN,
|
||
Marzulla TB,
|
||
O'Connor BC,
|
||
Quinonez SC,
|
||
Seemann L,
|
||
Turner L,
|
||
Bielas S,
|
||
Harris NL,
|
||
Ogle JD,
|
||
Innis JW,
|
||
Martin DM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Res</span>
|
||
2020 Mar;87(4):735-739.
|
||
Epub 2019 Oct 16
|
||
doi: 10.1038/s41390-019-0611-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31618753" target="_blank">31618753</a><a href="/pmc/articles/PMC7082194" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20466091">Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miller DT,
|
||
Adam MP,
|
||
Aradhya S,
|
||
Biesecker LG,
|
||
Brothman AR,
|
||
Carter NP,
|
||
Church DM,
|
||
Crolla JA,
|
||
Eichler EE,
|
||
Epstein CJ,
|
||
Faucett WA,
|
||
Feuk L,
|
||
Friedman JM,
|
||
Hamosh A,
|
||
Jackson L,
|
||
Kaminsky EB,
|
||
Kok K,
|
||
Krantz ID,
|
||
Kuhn RM,
|
||
Lee C,
|
||
Ostell JM,
|
||
Rosenberg C,
|
||
Scherer SW,
|
||
Spinner NB,
|
||
Stavropoulos DJ,
|
||
Tepperberg JH,
|
||
Thorland EC,
|
||
Vermeesch JR,
|
||
Waggoner DJ,
|
||
Watson MS,
|
||
Martin CL,
|
||
Ledbetter DH</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2010 May 14;86(5):749-64.
|
||
doi: 10.1016/j.ajhg.2010.04.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20466091" target="_blank">20466091</a><a href="/pmc/articles/PMC2869000" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22multiple%20congenital%20anomalies%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 (63)</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/38766979">Simpson-Golabi-Behmel syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vaisfeld A,
|
||
Neri G</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2024 Dec;196(4):e32088.
|
||
Epub 2024 May 20
|
||
doi: 10.1002/ajmg.c.32088.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38766979" target="_blank">38766979</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30580478">The etiology of VACTERL association: Current knowledge and hypotheses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Solomon BD</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2018 Dec;178(4):440-446.
|
||
doi: 10.1002/ajmg.c.31664.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30580478" target="_blank">30580478</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21150890">Phenotypic manifestations of copy number variation in chromosome 16p13.11.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nagamani SC,
|
||
Erez A,
|
||
Bader P,
|
||
Lalani SR,
|
||
Scott DA,
|
||
Scaglia F,
|
||
Plon SE,
|
||
Tsai CH,
|
||
Reimschisel T,
|
||
Roeder E,
|
||
Malphrus AD,
|
||
Eng PA,
|
||
Hixson PM,
|
||
Kang SH,
|
||
Stankiewicz P,
|
||
Patel A,
|
||
Cheung SW</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2011 Mar;19(3):280-6.
|
||
Epub 2010 Dec 8
|
||
doi: 10.1038/ejhg.2010.184.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21150890" target="_blank">21150890</a><a href="/pmc/articles/PMC3061988" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18505544">Leopard syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarkozy A,
|
||
Digilio MC,
|
||
Dallapiccola B</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2008 May 27;3:13.
|
||
doi: 10.1186/1750-1172-3-13.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18505544" target="_blank">18505544</a><a href="/pmc/articles/PMC2467408" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3044795">Wiedemann-Beckwith syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Engström W,
|
||
Lindham S,
|
||
Schofield P</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
1988 Jun;147(5):450-7.
|
||
doi: 10.1007/BF00441965.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3044795" target="_blank">3044795</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20congenital%20anomalies%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 (457)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35909110">Post-intubation Respiratory Failure in an Infant with Multiple Congenital Anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berlin K,
|
||
Cabacungan E,
|
||
Hopp A,
|
||
Jarzembowski J,
|
||
Karody V</span><br />
|
||
<span class="medgenPMjournal">Neoreviews</span>
|
||
2022 Aug 1;23(8):e589-e594.
|
||
doi: 10.1542/neo.23-8-e589.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35909110" target="_blank">35909110</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25425112">Pallister-Killian syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Izumi K,
|
||
Krantz ID</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2014 Dec;166C(4):406-13.
|
||
Epub 2014 Nov 25
|
||
doi: 10.1002/ajmg.c.31423.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25425112" target="_blank">25425112</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25424727">Pallister-Hall syndrome has gone the way of modern medical genetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hall JG</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2014 Dec;166C(4):414-8.
|
||
Epub 2014 Nov 25
|
||
doi: 10.1002/ajmg.c.31419.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25424727" target="_blank">25424727</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25237200">Paroxysmal nocturnal hemoglobinuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brodsky RA</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2014 Oct 30;124(18):2804-11.
|
||
Epub 2014 Sep 18
|
||
doi: 10.1182/blood-2014-02-522128.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25237200" target="_blank">25237200</a><a href="/pmc/articles/PMC4215311" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16208689">XK-aprosencephaly and related entities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Renzetti G,
|
||
Villani A,
|
||
Bizzarri C,
|
||
Chessa L,
|
||
Vignati E,
|
||
Gianotti A,
|
||
Cappa M,
|
||
Szakacs J,
|
||
Townsend JJ,
|
||
Miller ME,
|
||
Opitz JM,
|
||
Kennedy AM,
|
||
Byrne JL</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2005 Nov 1;138(4):401-10.
|
||
doi: 10.1002/ajmg.a.30600.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16208689" target="_blank">16208689</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20congenital%20anomalies%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 (813)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/20421621">Teratogenic causes of malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gilbert-Barness E</span><br />
|
||
<span class="medgenPMjournal">Ann Clin Lab Sci</span>
|
||
2010 Spring;40(2):99-114.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20421621" target="_blank">20421621</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14745921">Multiple congenital anomalies associated with in utero exposure of phenytoin: possible hypoxic ischemic mechanism?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lyon HM,
|
||
Holmes LB,
|
||
Huang T</span><br />
|
||
<span class="medgenPMjournal">Birth Defects Res A Clin Mol Teratol</span>
|
||
2003 Dec;67(12):993-6.
|
||
doi: 10.1002/bdra.10100.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14745921" target="_blank">14745921</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3343412">Ulerythema ophryogenes with multiple congenital anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Burnett JW,
|
||
Schwartz MF,
|
||
Berberian BJ</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
1988 Feb;18(2 Pt 2):437-40.
|
||
doi: 10.1016/s0190-9622(88)70065-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3343412" target="_blank">3343412</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7395946">Multiple congenital anomalies in a fetus exposed to 5-fluorouracil during the first trimester.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stephens JD,
|
||
Golbus MS,
|
||
Miller TR,
|
||
Wilber RR,
|
||
Epstein CJ</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
1980 Jul 15;137(6):747-9.
|
||
doi: 10.1016/s0002-9378(15)33259-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7395946" target="_blank">7395946</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/831501">Multiple congenital anomalies associated with oral anticoagulants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shaul WL,
|
||
Hall JG</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
1977 Jan 15;127(2):191-8.
|
||
doi: 10.1016/s0002-9378(16)33249-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/831501" target="_blank">831501</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20congenital%20anomalies%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 (85)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34131312">Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shao L,
|
||
Akkari Y,
|
||
Cooley LD,
|
||
Miller DT,
|
||
Seifert BA,
|
||
Wolff DJ,
|
||
Mikhail FM;
|
||
ACMG Laboratory Quality Assurance Committee</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2021 Oct;23(10):1818-1829.
|
||
Epub 2021 Jun 15
|
||
doi: 10.1038/s41436-021-01214-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34131312" target="_blank">34131312</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31618753">Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ziats MN,
|
||
Ahmad A,
|
||
Bernat JA,
|
||
Fisher R,
|
||
Glassford M,
|
||
Hannibal MC,
|
||
Jacher JE,
|
||
Weiser N,
|
||
Keegan CE,
|
||
Lee KN,
|
||
Marzulla TB,
|
||
O'Connor BC,
|
||
Quinonez SC,
|
||
Seemann L,
|
||
Turner L,
|
||
Bielas S,
|
||
Harris NL,
|
||
Ogle JD,
|
||
Innis JW,
|
||
Martin DM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Res</span>
|
||
2020 Mar;87(4):735-739.
|
||
Epub 2019 Oct 16
|
||
doi: 10.1038/s41390-019-0611-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31618753" target="_blank">31618753</a><a href="/pmc/articles/PMC7082194" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25836705">Common genetic and epigenetic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adams DJ,
|
||
Clark DA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2015 Apr;62(2):411-26.
|
||
Epub 2015 Jan 22
|
||
doi: 10.1016/j.pcl.2014.11.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25836705" target="_blank">25836705</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25425112">Pallister-Killian syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Izumi K,
|
||
Krantz ID</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2014 Dec;166C(4):406-13.
|
||
Epub 2014 Nov 25
|
||
doi: 10.1002/ajmg.c.31423.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25425112" target="_blank">25425112</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18505544">Leopard syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarkozy A,
|
||
Digilio MC,
|
||
Dallapiccola B</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2008 May 27;3:13.
|
||
doi: 10.1186/1750-1172-3-13.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18505544" target="_blank">18505544</a><a href="/pmc/articles/PMC2467408" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20congenital%20anomalies%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 (283)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31618753">Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ziats MN,
|
||
Ahmad A,
|
||
Bernat JA,
|
||
Fisher R,
|
||
Glassford M,
|
||
Hannibal MC,
|
||
Jacher JE,
|
||
Weiser N,
|
||
Keegan CE,
|
||
Lee KN,
|
||
Marzulla TB,
|
||
O'Connor BC,
|
||
Quinonez SC,
|
||
Seemann L,
|
||
Turner L,
|
||
Bielas S,
|
||
Harris NL,
|
||
Ogle JD,
|
||
Innis JW,
|
||
Martin DM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Res</span>
|
||
2020 Mar;87(4):735-739.
|
||
Epub 2019 Oct 16
|
||
doi: 10.1038/s41390-019-0611-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31618753" target="_blank">31618753</a><a href="/pmc/articles/PMC7082194" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29469822">Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnston JJ,
|
||
van der Smagt JJ,
|
||
Rosenfeld JA,
|
||
Pagnamenta AT,
|
||
Alswaid A,
|
||
Baker EH,
|
||
Blair E,
|
||
Borck G,
|
||
Brinkmann J,
|
||
Craigen W,
|
||
Dung VC,
|
||
Emrick L,
|
||
Everman DB,
|
||
van Gassen KL,
|
||
Gulsuner S,
|
||
Harr MH,
|
||
Jain M,
|
||
Kuechler A,
|
||
Leppig KA,
|
||
McDonald-McGinn DM,
|
||
Can NTB,
|
||
Peleg A,
|
||
Roeder ER,
|
||
Rogers RC,
|
||
Sagi-Dain L,
|
||
Sapp JC,
|
||
Schäffer AA,
|
||
Schanze D,
|
||
Stewart H,
|
||
Taylor JC,
|
||
Verbeek NE,
|
||
Walkiewicz MA,
|
||
Zackai EH,
|
||
Zweier C;
|
||
Members of the Undiagnosed Diseases Network,
|
||
Zenker M,
|
||
Lee B,
|
||
Biesecker LG</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2018 Oct;20(10):1175-1185.
|
||
Epub 2018 Feb 22
|
||
doi: 10.1038/gim.2017.249.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29469822" target="_blank">29469822</a><a href="/pmc/articles/PMC6105555" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26697951">FTO variant associated with malformation syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rohena L,
|
||
Lawson M,
|
||
Guzman E,
|
||
Ganapathi M,
|
||
Cho MT,
|
||
Haverfield E,
|
||
Anyane-Yeboa K</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2016 Apr;170A(4):1023-8.
|
||
Epub 2015 Dec 24
|
||
doi: 10.1002/ajmg.a.37515.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26697951" target="_blank">26697951</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25356970">Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farwell KD,
|
||
Shahmirzadi L,
|
||
El-Khechen D,
|
||
Powis Z,
|
||
Chao EC,
|
||
Tippin Davis B,
|
||
Baxter RM,
|
||
Zeng W,
|
||
Mroske C,
|
||
Parra MC,
|
||
Gandomi SK,
|
||
Lu I,
|
||
Li X,
|
||
Lu H,
|
||
Lu HM,
|
||
Salvador D,
|
||
Ruble D,
|
||
Lao M,
|
||
Fischbach S,
|
||
Wen J,
|
||
Lee S,
|
||
Elliott A,
|
||
Dunlop CL,
|
||
Tang S</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2015 Jul;17(7):578-86.
|
||
Epub 2014 Nov 13
|
||
doi: 10.1038/gim.2014.154.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25356970" target="_blank">25356970</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21150890">Phenotypic manifestations of copy number variation in chromosome 16p13.11.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nagamani SC,
|
||
Erez A,
|
||
Bader P,
|
||
Lalani SR,
|
||
Scott DA,
|
||
Scaglia F,
|
||
Plon SE,
|
||
Tsai CH,
|
||
Reimschisel T,
|
||
Roeder E,
|
||
Malphrus AD,
|
||
Eng PA,
|
||
Hixson PM,
|
||
Kang SH,
|
||
Stankiewicz P,
|
||
Patel A,
|
||
Cheung SW</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2011 Mar;19(3):280-6.
|
||
Epub 2010 Dec 8
|
||
doi: 10.1038/ejhg.2010.184.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21150890" target="_blank">21150890</a><a href="/pmc/articles/PMC3061988" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20congenital%20anomalies%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 (319)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<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/39228063">Prenatal Phenotype of Alkuraya-Kučinskas Syndrome: A Novel Case and Systematic Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rice SM,
|
||
Varotsis DF,
|
||
Wodoslawsky S,
|
||
Critchlow E,
|
||
Liu R,
|
||
McLaren RA Jr,
|
||
Makhamreh MM,
|
||
Firman B,
|
||
Berger SI,
|
||
Al-Kouatly HB</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2024 Oct;44(11):1381-1397.
|
||
Epub 2024 Sep 3
|
||
doi: 10.1002/pd.6637.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39228063" target="_blank">39228063</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36941760">Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Le H,
|
||
Jin E,
|
||
Jewell A,
|
||
Jackson-Cook C,
|
||
Haskell GT,
|
||
Couser N</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2023 Jun;191(6):1639-1645.
|
||
Epub 2023 Mar 20
|
||
doi: 10.1002/ajmg.a.63186.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36941760" target="_blank">36941760</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33794347">Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Merdler-Rabinowicz R,
|
||
Prat D,
|
||
Pode-Shakked B,
|
||
Abel G,
|
||
Chorin O,
|
||
Somech R,
|
||
Raas-Rothschild A</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2021 Jun;64(6):104210.
|
||
Epub 2021 Mar 30
|
||
doi: 10.1016/j.ejmg.2021.104210.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33794347" target="_blank">33794347</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29482518">Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xin C,
|
||
Wang C,
|
||
Wang Y,
|
||
Zhao J,
|
||
Wang L,
|
||
Li R,
|
||
Liu J</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2018 Feb 27;19(1):31.
|
||
doi: 10.1186/s12881-018-0545-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29482518" target="_blank">29482518</a><a href="/pmc/articles/PMC6389055" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20congenital%20anomalies%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
||
|
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|
||
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|
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|
||
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|
||
|
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</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
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<div>
|
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|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0000772%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (85)</a></li>
|
||
<li><a href="/gtr/tests?term=C0000772%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C0000772%5bDISCUI%5d&filter=method%3A3%5F23" target="_blank">FISH-interphase (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C0000772%5bDISCUI%5d&filter=method%3A3%5F24" target="_blank">FISH-metaphase (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0000772%5bDISCUI%5d&filter=method%3A3%5F32" target="_blank">Karyotyping (31)</a></li>
|
||
<li><a href="/gtr/tests?term=C0000772%5bDISCUI%5d&filter=method%3A2%5F13" target="_blank">Linkage analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0000772%5bDISCUI%5d&filter=method%3A%5F" target="_blank">Multicolor FISH (M-FISH)/Spectral Karyotyping™ (SKY™) (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0000772%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (63)</a></li>
|
||
<li><a href="/gtr/tests?term=C0000772%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0000772%5bDISCUI%5d&filter=method%3A2%5F20" target="_blank">Uniparental disomy study (UPD) (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0000772%5bDISCUI%5d" target="_blank">See all (123)</a></total></li>
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</ul></div>
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</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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