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<!--
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UID=1842619
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ConceptID=C5679853
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1842619</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.">C5679853</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
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<td>Genetic MCA; Genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)</td></tr>
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<tr><td colspan="2" class="small"> </td></tr><tr><td>Orphanet:</td>
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<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=330206">ORPHA330206</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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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 unavailable round" title="Clinical test">C</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 unavailable" title="ClinVar">V</span></span><span class="TLline">Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="matched_ds">Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability</span><ul><li><span class="TLline"><a href="/medgen/336440" ref="tree=MeSH" title="MedGen record for 3-M syndrome">3-M syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/395592" ref="tree=MeSH" title="MedGen record for 3M syndrome 1">3M syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/414168" ref="tree=MeSH" title="MedGen record for 3M syndrome 2">3M syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/481776" ref="tree=MeSH" title="MedGen record for 3M syndrome 3">3M syndrome 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1384259" ref="tree=MeSH" title="MedGen record for 49,XYYYY syndrome">49,XYYYY syndrome</a></span></li><li><span class="TLline"><a href="/medgen/334165" ref="tree=MeSH" title="MedGen record for 8q22.1 microdeletion syndrome">8q22.1 microdeletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/66316" ref="tree=MeSH" title="MedGen record for Aase-Smith syndrome">Aase-Smith syndrome</a></span></li><li><span class="TLline"><a href="/medgen/375529" ref="tree=MeSH" title="MedGen record for Abruzzo-Erickson syndrome">Abruzzo-Erickson syndrome</a></span></li><li><span class="TLline"><a href="/medgen/318725" ref="tree=MeSH" title="MedGen record for Absent tibia-polydactyly-arachnoid cyst syndrome">Absent tibia-polydactyly-arachnoid cyst syndrome</a></span></li><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/395425" ref="tree=MeSH" title="MedGen record for Acro-renal-mandibular syndrome">Acro-renal-mandibular syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78551" ref="tree=MeSH" title="MedGen record for Acrocephalosyndactyly type V">Acrocephalosyndactyly type V</a></span></li><li><span class="TLline"><a href="/medgen/349738" ref="tree=MeSH" title="MedGen record for Acrocraniofacial dysostosis">Acrocraniofacial dysostosis</a></span></li><li><span class="TLline"><a href="/medgen/383797" ref="tree=MeSH" title="MedGen record for Acrofrontofacionasal dysostosis type 2">Acrofrontofacionasal dysostosis type 2</a></span></li><li><span class="TLline"><a href="/medgen/501193" ref="tree=MeSH" title="MedGen record for Acrorenal syndrome">Acrorenal syndrome</a></span></li><li><span class="TLline"><a href="/medgen/348504" ref="tree=MeSH" title="MedGen record for Alar cartilages hypoplasia-coloboma-telecanthus syndrome">Alar cartilages hypoplasia-coloboma-telecanthus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/339565" ref="tree=MeSH" title="MedGen record for Anonychia-microcephaly syndrome">Anonychia-microcephaly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/322166" ref="tree=MeSH" title="MedGen record for Anophthalmia plus syndrome">Anophthalmia plus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/929704" ref="tree=MeSH" title="MedGen record for Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome">Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome</a></span></li><li><span class="TLline"><a href="/medgen/976695" ref="tree=MeSH" title="MedGen record for Arrhinia-choanal atresia-microphthalmia syndrome">Arrhinia-choanal atresia-microphthalmia syndrome</a></span></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/137910" ref="tree=MeSH" title="MedGen record for Ascher syndrome">Ascher syndrome</a></span></li><li><span class="TLline"><a href="/medgen/374010" ref="tree=MeSH" title="MedGen record for Atrioventricular defect-blepharophimosis-radial and anal defect syndrome">Atrioventricular defect-blepharophimosis-radial and anal defect syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1378358" ref="tree=MeSH" title="MedGen record for Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome">Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome</a></span></li><li><span class="TLline"><a href="/medgen/341637" ref="tree=MeSH" title="MedGen record for Autosomal recessive faciodigitogenital syndrome">Autosomal recessive faciodigitogenital syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82696" ref="tree=MeSH" title="MedGen record for Autosomal recessive multiple pterygium syndrome">Autosomal recessive multiple pterygium syndrome</a></span></li><li><span class="TLline"><a href="/medgen/501192" ref="tree=MeSH" title="MedGen record for Axenfeld-Rieger syndrome">Axenfeld-Rieger syndrome</a></span></li><li><span class="TLline"><a href="/medgen/992596" ref="tree=MeSH" title="MedGen record for B-cell 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record for Blepharocheilodontic syndrome">Blepharocheilodontic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/347880" ref="tree=MeSH" title="MedGen record for Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome">Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome</a></span></li><li><span class="TLline"><a href="/medgen/413305" ref="tree=MeSH" title="MedGen record for BNAR syndrome">BNAR syndrome</a></span></li><li><span class="TLline"><a href="/medgen/444052" ref="tree=MeSH" title="MedGen record for Brachytelephalangy-dysmorphism-Kallmann syndrome">Brachytelephalangy-dysmorphism-Kallmann syndrome</a></span></li><li><span class="TLline"><a href="/medgen/333986" ref="tree=MeSH" title="MedGen record for Braddock syndrome">Braddock syndrome</a></span></li><li><span class="TLline"><a href="/medgen/91261" ref="tree=MeSH" title="MedGen record for Branchiooculofacial syndrome">Branchiooculofacial syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1636666" ref="tree=MeSH" title="MedGen record for Branchiootic syndrome">Branchiootic syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/351307" ref="tree=MeSH" title="MedGen record for Branchiootic syndrome 1">Branchiootic syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/377737" ref="tree=MeSH" title="MedGen record for Branchiootic syndrome 2">Branchiootic syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/333995" ref="tree=MeSH" title="MedGen record for Branchiootic syndrome 3">Branchiootic syndrome 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/395241" ref="tree=MeSH" title="MedGen record for Camptodactyly syndrome, Guadalajara type 1">Camptodactyly syndrome, Guadalajara type 1</a></span></li><li><span class="TLline"><a href="/medgen/419870" ref="tree=MeSH" title="MedGen record for Camptodactyly syndrome, Guadalajara type 2">Camptodactyly syndrome, Guadalajara type 2</a></span></li><li><span class="TLline"><a href="/medgen/355918" ref="tree=MeSH" title="MedGen record for Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye">Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye</a></span></li><li><span class="TLline"><a href="/medgen/350520" ref="tree=MeSH" title="MedGen record for Cataract-aberrant oral frenula-growth delay syndrome">Cataract-aberrant oral frenula-growth delay syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1379887" ref="tree=MeSH" title="MedGen record for Charlie M syndrome">Charlie M syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82697" ref="tree=MeSH" title="MedGen record for Child syndrome">Child syndrome</a></span></li><li><span class="TLline"><a href="/medgen/325265" ref="tree=MeSH" title="MedGen record for Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome">Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1800190" ref="tree=MeSH" title="MedGen record for Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome">Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419494" ref="tree=MeSH" title="MedGen record for Cleft lip-retinopathy syndrome">Cleft lip-retinopathy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/444135" ref="tree=MeSH" title="MedGen record for Cleft lip/palate-intestinal malrotation-cardiopathy syndrome">Cleft lip/palate-intestinal malrotation-cardiopathy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/162888" ref="tree=MeSH" title="MedGen record for Cleft palate-lateral synechia syndrome">Cleft palate-lateral synechia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/333031" ref="tree=MeSH" title="MedGen record for CODAS syndrome">CODAS syndrome</a></span></li><li><span class="TLline"><a href="/medgen/350614" ref="tree=MeSH" title="MedGen record for Cole-Carpenter syndrome">Cole-Carpenter syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1814457" ref="tree=MeSH" title="MedGen record for Congenital vertebral-cardiac-renal anomalies syndrome">Congenital vertebral-cardiac-renal anomalies syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1661787" ref="tree=MeSH" title="MedGen record for Contractures - webbed neck - micrognathia - hypoplastic nipples syndrome">Contractures - webbed neck - micrognathia - hypoplastic nipples syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75554" ref="tree=MeSH" title="MedGen record for Craniofacial microsomia">Craniofacial microsomia</a></span><ul><li><span class="TLline"><a href="/medgen/501171" ref="tree=MeSH" title="MedGen record for Craniofacial microsomia 1">Craniofacial microsomia 1</a></span></li><li><span class="TLline"><a href="/medgen/1830923" ref="tree=MeSH" title="MedGen record for Craniofacial microsomia 2">Craniofacial microsomia 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/377694" ref="tree=MeSH" title="MedGen record for Craniofacial-deafness-hand syndrome">Craniofacial-deafness-hand syndrome</a></span></li><li><span class="TLline"><a href="/medgen/334671" ref="tree=MeSH" title="MedGen record for Craniolenticulosutural dysplasia">Craniolenticulosutural dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/377678" ref="tree=MeSH" title="MedGen record for Cryptomicrotia-brachydactyly-excess fingertip arch syndrome">Cryptomicrotia-brachydactyly-excess fingertip arch 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/141594" ref="tree=MeSH" title="MedGen record for Curry-Hall syndrome">Curry-Hall syndrome</a></span></li><li><span class="TLline"><a href="/medgen/343800" ref="tree=MeSH" title="MedGen record for Cyprus facial-neuromusculoskeletal syndrome">Cyprus facial-neuromusculoskeletal syndrome</a></span></li><li><span class="TLline"><a href="/medgen/401071" ref="tree=MeSH" title="MedGen record for Czeizel-Losonci syndrome">Czeizel-Losonci 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/342201" ref="tree=MeSH" title="MedGen record for Deafness-craniofacial syndrome">Deafness-craniofacial syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1848671" ref="tree=MeSH" title="MedGen record for Developmental malformations-deafness-dystonia syndrome">Developmental malformations-deafness-dystonia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/371377" ref="tree=MeSH" title="MedGen record for Diaphragmatic defect-limb deficiency-skull defect syndrome">Diaphragmatic defect-limb deficiency-skull defect syndrome</a></span></li><li><span class="TLline"><a href="/medgen/987924" ref="tree=MeSH" title="MedGen record for Digitotalar dysmorphism">Digitotalar dysmorphism</a></span></li><li><span class="TLline"><a href="/medgen/316970" ref="tree=MeSH" title="MedGen record for Dislocation of the hip-dysmorphism syndrome">Dislocation of the hip-dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1385827" ref="tree=MeSH" title="MedGen record for Dysmorphism-pectus carinatum-joint laxity syndrome">Dysmorphism-pectus carinatum-joint laxity syndrome</a></span></li><li><span class="TLline"><a href="/medgen/904613" ref="tree=MeSH" title="MedGen record for Even-plus syndrome">Even-plus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/361813" ref="tree=MeSH" title="MedGen record for External auditory canal atresia-vertical talus-hypertelorism syndrome">External auditory canal atresia-vertical talus-hypertelorism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419355" ref="tree=MeSH" title="MedGen record for Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome">Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome</a></span></li><li><span class="TLline"><a href="/medgen/41967" ref="tree=MeSH" title="MedGen record for Fanconi anemia">Fanconi anemia</a></span><ul><li><span class="TLline"><a href="/medgen/483333" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group A">Fanconi anemia complementation group A</a></span><ul><li><span class="TLline"><a href="/medgen/341624" ref="tree=MeSH" title="MedGen record for Fanconi anemia, Estren-Dameshek variant">Fanconi anemia, Estren-Dameshek variant</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/336901" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group B">Fanconi anemia complementation group B</a></span></li><li><span class="TLline"><a href="/medgen/483324" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group C">Fanconi anemia complementation group C</a></span></li><li><span class="TLline"><a href="/medgen/325420" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group D1">Fanconi anemia complementation group D1</a></span></li><li><span class="TLline"><a href="/medgen/463627" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group D2">Fanconi anemia complementation group D2</a></span></li><li><span class="TLline"><a href="/medgen/463628" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group E">Fanconi anemia complementation group E</a></span></li><li><span class="TLline"><a href="/medgen/854016" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group F">Fanconi anemia complementation group F</a></span></li><li><span class="TLline"><a href="/medgen/854017" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group G">Fanconi anemia complementation group G</a></span></li><li><span class="TLline"><a href="/medgen/323016" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group I">Fanconi anemia complementation group I</a></span></li><li><span class="TLline"><a href="/medgen/323015" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group J">Fanconi anemia complementation group J</a></span></li><li><span class="TLline"><a href="/medgen/854018" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group L">Fanconi anemia complementation group L</a></span></li><li><span class="TLline"><a href="/medgen/372133" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group N">Fanconi anemia complementation group N</a></span></li><li><span class="TLline"><a href="/medgen/462003" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group O">Fanconi anemia complementation group O</a></span></li><li><span class="TLline"><a href="/medgen/854020" ref="tree=MeSH" title="MedGen record for Fanconi anemia complementation group P">Fanconi anemia complementation group P</a></span></li><li><span class="TLline"><a href="/medgen/854019" ref="tree=MeSH" title="MedGen record for Fanconi anemia, complementation group M">Fanconi anemia, complementation group M</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/120523" ref="tree=MeSH" title="MedGen record for Femoral hypoplasia - unusual facies syndrome">Femoral hypoplasia - unusual facies syndrome</a></span></li><li><span class="TLline"><a href="/medgen/220903" ref="tree=MeSH" title="MedGen record for Fetal akinesia deformation sequence 1">Fetal akinesia deformation sequence 1</a></span></li><li><span class="TLline"><a href="/medgen/40219" ref="tree=MeSH" title="MedGen record for Fibrous dysplasia of jaw">Fibrous dysplasia of jaw</a></span></li><li><span class="TLline"><a href="/medgen/383972" ref="tree=MeSH" title="MedGen record for Fibulo-ulnar hypoplasia-renal anomalies syndrome">Fibulo-ulnar hypoplasia-renal anomalies syndrome</a></span></li><li><span class="TLline"><a href="/medgen/356655" ref="tree=MeSH" title="MedGen record for Flat face-microstomia-ear anomaly syndrome">Flat face-microstomia-ear anomaly syndrome</a></span></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/120516" ref="tree=MeSH" title="MedGen record for Freeman-Sheldon syndrome">Freeman-Sheldon syndrome</a></span></li><li><span class="TLline"><a href="/medgen/400621" ref="tree=MeSH" title="MedGen record for Frias syndrome">Frias syndrome</a></span></li><li><span class="TLline"><a href="/medgen/341558" ref="tree=MeSH" title="MedGen record for Genito-palato-cardiac syndrome">Genito-palato-cardiac syndrome</a></span></li><li><span class="TLline"><a href="/medgen/346437" ref="tree=MeSH" title="MedGen record for Gingival fibromatosis-facial dysmorphism syndrome">Gingival fibromatosis-facial dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/444125" ref="tree=MeSH" title="MedGen record for Gollop syndrome">Gollop syndrome</a></span></li><li><span class="TLline"><a href="/medgen/66314" ref="tree=MeSH" title="MedGen record for Gordon syndrome">Gordon syndrome</a></span></li><li><span class="TLline"><a href="/medgen/355427" ref="tree=MeSH" title="MedGen record for Grange syndrome">Grange syndrome</a></span></li><li><span class="TLline"><a href="/medgen/331103" ref="tree=MeSH" title="MedGen record for Hand-foot-genital syndrome">Hand-foot-genital syndrome</a></span></li><li><span class="TLline"><a href="/medgen/341804" ref="tree=MeSH" title="MedGen record for Heart defect - tongue hamartoma - polysyndactyly syndrome">Heart defect - tongue hamartoma - polysyndactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/349142" ref="tree=MeSH" title="MedGen record for Heart defects-limb shortening syndrome">Heart defects-limb shortening syndrome</a></span></li><li><span class="TLline"><a href="/medgen/444030" ref="tree=MeSH" title="MedGen record for Heart-hand syndrome type 2">Heart-hand syndrome type 2</a></span></li><li><span class="TLline"><a href="/medgen/333883" ref="tree=MeSH" title="MedGen record for Heart-hand syndrome type 3">Heart-hand syndrome type 3</a></span></li><li><span class="TLline"><a href="/medgen/341066" ref="tree=MeSH" title="MedGen record for Hirschsprung disease-hearing loss-polydactyly syndrome">Hirschsprung disease-hearing loss-polydactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/375339" ref="tree=MeSH" title="MedGen record for Hirschsprung disease-type D brachydactyly syndrome">Hirschsprung disease-type D brachydactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120524" ref="tree=MeSH" title="MedGen record for Holt-Oram syndrome">Holt-Oram syndrome</a></span></li><li><span class="TLline"><a href="/medgen/344650" ref="tree=MeSH" title="MedGen record for Holzgreve-Wagner-Rehder syndrome">Holzgreve-Wagner-Rehder syndrome</a></span></li><li><span class="TLline"><a href="/medgen/383828" ref="tree=MeSH" title="MedGen record for Hydrocephaly-tall stature-joint laxity syndrome">Hydrocephaly-tall stature-joint laxity syndrome</a></span></li><li><span class="TLline"><a href="/medgen/342457" ref="tree=MeSH" title="MedGen record for Ichthyosis-oral and digital anomalies syndrome">Ichthyosis-oral and digital anomalies syndrome</a></span></li><li><span class="TLline"><a href="/medgen/162906" ref="tree=MeSH" title="MedGen record for Juberg-Hayward syndrome">Juberg-Hayward syndrome</a></span></li><li><span class="TLline"><a href="/medgen/338088" ref="tree=MeSH" title="MedGen record for Keipert syndrome">Keipert 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/344338" ref="tree=MeSH" title="MedGen record for Lethal congenital contracture syndrome 1">Lethal congenital contracture syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/334413" ref="tree=MeSH" title="MedGen record for Lethal congenital contracture syndrome 2">Lethal congenital contracture syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/369555" ref="tree=MeSH" title="MedGen record for Lethal congenital contracture syndrome 3">Lethal congenital contracture syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/78545" ref="tree=MeSH" title="MedGen record for Levy-Hollister syndrome">Levy-Hollister syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1824059" ref="tree=MeSH" title="MedGen record for Lacrimoauriculodentodigital syndrome 2">Lacrimoauriculodentodigital syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/1824060" ref="tree=MeSH" title="MedGen record for Lacrimoauriculodentodigital syndrome 3">Lacrimoauriculodentodigital syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/1824096" ref="tree=MeSH" title="MedGen record for LADD syndrome 1">LADD syndrome 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1391725" ref="tree=MeSH" title="MedGen record for Macrostomia-preauricular tags-external ophthalmoplegia syndrome">Macrostomia-preauricular tags-external ophthalmoplegia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98316" ref="tree=MeSH" title="MedGen record for Mandibular prognathia">Mandibular prognathia</a></span></li><li><span class="TLline"><a href="/medgen/98485" ref="tree=MeSH" title="MedGen record for Mandibuloacral dysplasia">Mandibuloacral dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/1757618" ref="tree=MeSH" title="MedGen record for Mandibuloacral dysplasia with type A lipodystrophy">Mandibuloacral dysplasia with type A lipodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/332940" ref="tree=MeSH" title="MedGen record for Mandibuloacral dysplasia with type B lipodystrophy">Mandibuloacral dysplasia with type B lipodystrophy</a></span></li></ul></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/318679" ref="tree=MeSH" title="MedGen record for Matthew-Wood syndrome">Matthew-Wood syndrome</a></span></li><li><span class="TLline"><a href="/medgen/184924" ref="tree=MeSH" title="MedGen record for McKusick-Kaufman syndrome">McKusick-Kaufman syndrome</a></span></li><li><span class="TLline"><a href="/medgen/372034" ref="tree=MeSH" title="MedGen record for Median nodule of the upper lip">Median nodule of the upper lip</a></span></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/6292" ref="tree=MeSH" title="MedGen record for Melnick-Needles syndrome">Melnick-Needles syndrome</a></span></li><li><span class="TLline"><a href="/medgen/340833" ref="tree=MeSH" title="MedGen record for Mesomelic dwarfism-cleft palate-camptodactyly syndrome">Mesomelic dwarfism-cleft palate-camptodactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/140771" ref="tree=MeSH" title="MedGen record for Microcephaly, normal intelligence and immunodeficiency">Microcephaly, normal intelligence and immunodeficiency</a></span></li><li><span class="TLline"><a href="/medgen/395372" ref="tree=MeSH" title="MedGen record for Microcephaly-albinism-digital anomalies syndrome">Microcephaly-albinism-digital anomalies syndrome</a></span></li><li><span class="TLline"><a href="/medgen/371329" ref="tree=MeSH" title="MedGen record for Microcephaly-cardiac defect-lung malsegmentation syndrome">Microcephaly-cardiac defect-lung malsegmentation syndrome</a></span></li><li><span class="TLline"><a href="/medgen/414129" ref="tree=MeSH" title="MedGen record for Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type">Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type</a></span></li><li><span class="TLline"><a href="/medgen/120522" ref="tree=MeSH" title="MedGen record for Miller syndrome">Miller syndrome</a></span></li><li><span class="TLline"><a href="/medgen/343489" ref="tree=MeSH" title="MedGen record for Mullerian derivatives-lymphangiectasia-polydactyly syndrome">Mullerian derivatives-lymphangiectasia-polydactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/327078" ref="tree=MeSH" title="MedGen record for Mullerian duct anomalies-limb anomalies syndrome">Mullerian duct anomalies-limb anomalies syndrome</a></span></li><li><span class="TLline"><a href="/medgen/333929" ref="tree=MeSH" title="MedGen record for Multinodular goiter-cystic kidney-polydactyly syndrome">Multinodular goiter-cystic kidney-polydactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120519" ref="tree=MeSH" title="MedGen record for Nager syndrome">Nager syndrome</a></span></li><li><span class="TLline"><a href="/medgen/358378" ref="tree=MeSH" title="MedGen record for Nasopalpebral lipoma-coloboma syndrome">Nasopalpebral lipoma-coloboma syndrome</a></span></li><li><span class="TLline"><a href="/medgen/340568" ref="tree=MeSH" title="MedGen record for Nephrosis-deafness-urinary tract-digital malformations syndrome">Nephrosis-deafness-urinary tract-digital malformations syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1814437" ref="tree=MeSH" title="MedGen record for Night blindness-skeletal anomalies-dysmorphism syndrome">Night blindness-skeletal anomalies-dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/442700" ref="tree=MeSH" title="MedGen record for Nijmegen breakage syndrome-like disorder">Nijmegen breakage syndrome-like disorder</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/67392" ref="tree=MeSH" title="MedGen record for Oculoauriculovertebral spectrum with radial defects">Oculoauriculovertebral spectrum with radial defects</a></span></li><li><span class="TLline"><a href="/medgen/383680" ref="tree=MeSH" title="MedGen record for Oculotrichoanal syndrome">Oculotrichoanal syndrome</a></span></li><li><span class="TLline"><a href="/medgen/376704" ref="tree=MeSH" title="MedGen record for Otoonychoperoneal syndrome">Otoonychoperoneal syndrome</a></span></li><li><span class="TLline"><a href="/medgen/341234" ref="tree=MeSH" title="MedGen record for Otospondylomegaepiphyseal dysplasia, autosomal dominant">Otospondylomegaepiphyseal dysplasia, autosomal dominant</a></span></li><li><span class="TLline"><a href="/medgen/347985" ref="tree=MeSH" title="MedGen record for PAGOD syndrome">PAGOD syndrome</a></span></li><li><span class="TLline"><a href="/medgen/373923" ref="tree=MeSH" title="MedGen record for PARC syndrome">PARC syndrome</a></span></li><li><span class="TLline"><a href="/medgen/373902" ref="tree=MeSH" title="MedGen record for Pectus excavatum-macrocephaly-dysplastic nails syndrome">Pectus excavatum-macrocephaly-dysplastic nails syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1374037" ref="tree=MeSH" title="MedGen record for Pelvis syndrome">Pelvis 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/376670" ref="tree=MeSH" title="MedGen record for PHAVER syndrome">PHAVER syndrome</a></span></li><li><span class="TLline"><a href="/medgen/337895" ref="tree=MeSH" title="MedGen record for Polysyndactyly-cardiac malformation syndrome">Polysyndactyly-cardiac malformation syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1682989" ref="tree=MeSH" title="MedGen record for Port-wine nevi-mega cisterna magna-hydrocephalus syndrome">Port-wine nevi-mega cisterna magna-hydrocephalus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/348108" ref="tree=MeSH" title="MedGen record for Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome">Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/357271" ref="tree=MeSH" title="MedGen record for Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome">Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome</a></span></li><li><span class="TLline"><a href="/medgen/336602" ref="tree=MeSH" title="MedGen record for Rapadilino syndrome">Rapadilino syndrome</a></span></li><li><span class="TLline"><a href="/medgen/336581" ref="tree=MeSH" title="MedGen record for Richieri Costa-Pereira syndrome">Richieri Costa-Pereira syndrome</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/371716" ref="tree=MeSH" title="MedGen record for Schilbach-Rott syndrome">Schilbach-Rott syndrome</a></span></li><li><span class="TLline"><a href="/medgen/355971" ref="tree=MeSH" title="MedGen record for Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome">Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome</a></span></li><li><span class="TLline"><a href="/medgen/357988" ref="tree=MeSH" title="MedGen record for Short stature-craniofacial anomalies-genital hypoplasia syndrome">Short stature-craniofacial anomalies-genital hypoplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/338866" ref="tree=MeSH" title="MedGen record for Short stature-valvular heart disease-characteristic facies syndrome">Short stature-valvular heart disease-characteristic facies syndrome</a></span></li><li><span class="TLline"><a href="/medgen/325001" ref="tree=MeSH" title="MedGen record for Short tarsus-absence of lower eyelashes syndrome">Short tarsus-absence of lower eyelashes syndrome</a></span></li><li><span class="TLline"><a href="/medgen/347431" ref="tree=MeSH" title="MedGen record for Split hand-foot malformation 1 with sensorineural hearing loss">Split hand-foot malformation 1 with sensorineural hearing loss</a></span></li><li><span class="TLline"><a href="/medgen/1798910" ref="tree=MeSH" title="MedGen record for Split-foot malformation-mesoaxial polydactyly syndrome">Split-foot malformation-mesoaxial polydactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/167085" ref="tree=MeSH" title="MedGen record for Subaortic stenosis-short stature syndrome">Subaortic stenosis-short stature syndrome</a></span></li><li><span class="TLline"><a href="/medgen/394424" ref="tree=MeSH" title="MedGen record for Syndactyly-telecanthus-anogenital and renal malformations syndrome">Syndactyly-telecanthus-anogenital and renal malformations syndrome</a></span></li><li><span class="TLline"><a href="/medgen/989457" ref="tree=MeSH" title="MedGen record for Teebi hypertelorism syndrome 1">Teebi hypertelorism syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/419746" ref="tree=MeSH" title="MedGen record for Tetraamelia-multiple malformations syndrome">Tetraamelia-multiple malformations syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419362" ref="tree=MeSH" title="MedGen record for Thomas syndrome">Thomas syndrome</a></span></li><li><span class="TLline"><a href="/medgen/336425" ref="tree=MeSH" title="MedGen record for Thymic-renal-anal-lung dysplasia">Thymic-renal-anal-lung dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/75555" ref="tree=MeSH" title="MedGen record for Townes syndrome">Townes syndrome</a></span></li><li><span class="TLline"><a href="/medgen/66078" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome">Treacher Collins syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/994681" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome 1">Treacher Collins syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/462333" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome 2">Treacher Collins syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/340868" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome 3">Treacher Collins syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/1712280" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome 4">Treacher Collins syndrome 4</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/341296" ref="tree=MeSH" title="MedGen record for Trigonocephaly-bifid nose-acral anomalies syndrome">Trigonocephaly-bifid nose-acral anomalies syndrome</a></span></li><li><span class="TLline"><a href="/medgen/322127" ref="tree=MeSH" title="MedGen record for Van den Ende-Gupta syndrome">Van den Ende-Gupta syndrome</a></span></li><li><span class="TLline"><a href="/medgen/61233" ref="tree=MeSH" title="MedGen record for Van der Woude syndrome">Van der Woude syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1640616" ref="tree=MeSH" title="MedGen record for Van der Woude syndrome 1">Van der Woude syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/338272" ref="tree=MeSH" title="MedGen record for Van der Woude syndrome 2">Van der Woude syndrome 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/322177" ref="tree=MeSH" title="MedGen record for Velo-facial-skeletal syndrome">Velo-facial-skeletal syndrome</a></span></li><li><span class="TLline"><a href="/medgen/395493" ref="tree=MeSH" title="MedGen record for Ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome">Ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome</a></span></li><li><span class="TLline"><a href="/medgen/395171" ref="tree=MeSH" title="MedGen record for Verloove Vanhorick-Brubakk syndrome">Verloove Vanhorick-Brubakk syndrome</a></span></li><li><span class="TLline"><a href="/medgen/340962" ref="tree=MeSH" title="MedGen record for Vici syndrome">Vici syndrome</a></span></li><li><span class="TLline"><a href="/medgen/341728" ref="tree=MeSH" title="MedGen record for Von Voss-Cherstvoy syndrome">Von Voss-Cherstvoy syndrome</a></span></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/462008" ref="tree=MeSH" title="MedGen record for Warsaw breakage syndrome">Warsaw breakage syndrome</a></span></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/376362" ref="tree=MeSH" title="MedGen record for White forelock with malformations">White forelock with malformations</a></span></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/36803942">Joubert syndrome: Molecular basis and treatment.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Spahiu L,
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Behluli E,
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||
Grajçevci-Uka V,
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||
Liehr T,
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Temaj G</span><br />
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<span class="medgenPMjournal">J Mother Child</span>
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2022 Mar 1;26(1):118-123.
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Epub 2023 Feb 22
|
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doi: 10.34763/jmotherandchild.20222601.d-22-00034.
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<span class="bold">PMID: </span><a href="/pubmed/36803942" target="_blank">36803942</a><a href="/pmc/articles/PMC10032320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31333129">Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Butler MG,
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Miller JL,
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||
Forster JL</span><br />
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<span class="medgenPMjournal">Curr Pediatr Rev</span>
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||
2019;15(4):207-244.
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doi: 10.2174/1573396315666190716120925.
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<span class="bold">PMID: </span><a href="/pubmed/31333129" target="_blank">31333129</a><a href="/pmc/articles/PMC7040524" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<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>
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<div class="portlet_content ln"><span class="medgenPMauthor">Miller DT,
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Adam MP,
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Aradhya S,
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||
Biesecker LG,
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Brothman AR,
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Carter NP,
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Church DM,
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Crolla JA,
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Eichler EE,
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Epstein CJ,
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Faucett WA,
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Feuk L,
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||
Friedman JM,
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Hamosh A,
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Jackson L,
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Kaminsky EB,
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Kok K,
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Krantz ID,
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Kuhn RM,
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Lee C,
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Ostell JM,
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Rosenberg C,
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||
Scherer SW,
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Spinner NB,
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||
Stavropoulos DJ,
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||
Tepperberg JH,
|
||
Thorland EC,
|
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Vermeesch JR,
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Waggoner DJ,
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Watson MS,
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||
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=(genetic%20multiple%20congenital%20anomalies%2Fdysmorphic%20syndrome%20without%20intellectual%20disability)%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 (820)</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/37450557">Epigenetic Causes of Overgrowth Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lui JC,
|
||
Baron J</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2024 Jan 18;109(2):312-320.
|
||
doi: 10.1210/clinem/dgad420.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37450557" target="_blank">37450557</a><a href="/pmc/articles/PMC11032252" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34845825">22q11.2 duplications: Expanding the clinical presentation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bartik LE,
|
||
Hughes SS,
|
||
Tracy M,
|
||
Feldt MM,
|
||
Zhang L,
|
||
Arganbright J,
|
||
Kaye A</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2022 Mar;188(3):779-787.
|
||
Epub 2021 Nov 29
|
||
doi: 10.1002/ajmg.a.62577.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34845825" target="_blank">34845825</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34687637">Alzheimer's disease associated with Down syndrome: a genetic form of dementia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fortea J,
|
||
Zaman SH,
|
||
Hartley S,
|
||
Rafii MS,
|
||
Head E,
|
||
Carmona-Iragui M</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2021 Nov;20(11):930-942.
|
||
doi: 10.1016/S1474-4422(21)00245-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34687637" target="_blank">34687637</a><a href="/pmc/articles/PMC9387748" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32029743">Down syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Antonarakis SE,
|
||
Skotko BG,
|
||
Rafii MS,
|
||
Strydom A,
|
||
Pape SE,
|
||
Bianchi DW,
|
||
Sherman SL,
|
||
Reeves RH</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2020 Feb 6;6(1):9.
|
||
doi: 10.1038/s41572-019-0143-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32029743" target="_blank">32029743</a><a href="/pmc/articles/PMC8428796" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22237428">Prader-Willi syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cassidy SB,
|
||
Schwartz S,
|
||
Miller JL,
|
||
Driscoll DJ</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2012 Jan;14(1):10-26.
|
||
Epub 2011 Sep 26
|
||
doi: 10.1038/gim.0b013e31822bead0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22237428" target="_blank">22237428</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Genetic%20multiple%20congenital%20anomalies%2Fdysmorphic%20syndrome%20without%20intellectual%20disability%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 (4795)</a></div><h3 class="subhead">Diagnosis</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/36803942">Joubert syndrome: Molecular basis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spahiu L,
|
||
Behluli E,
|
||
Grajçevci-Uka V,
|
||
Liehr T,
|
||
Temaj G</span><br />
|
||
<span class="medgenPMjournal">J Mother Child</span>
|
||
2022 Mar 1;26(1):118-123.
|
||
Epub 2023 Feb 22
|
||
doi: 10.34763/jmotherandchild.20222601.d-22-00034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36803942" target="_blank">36803942</a><a href="/pmc/articles/PMC10032320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30054457">NAA10-related syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu Y,
|
||
Lyon GJ</span><br />
|
||
<span class="medgenPMjournal">Exp Mol Med</span>
|
||
2018 Jul 27;50(7):1-10.
|
||
doi: 10.1038/s12276-018-0098-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30054457" target="_blank">30054457</a><a href="/pmc/articles/PMC6063861" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3290491">The Coffin-Lowry syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Young ID</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1988 May;25(5):344-8.
|
||
doi: 10.1136/jmg.25.5.344.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3290491" target="_blank">3290491</a><a href="/pmc/articles/PMC1050463" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3312608">Rubinstein-Taybi syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berry AC</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1987 Sep;24(9):562-6.
|
||
doi: 10.1136/jmg.24.9.562.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3312608" target="_blank">3312608</a><a href="/pmc/articles/PMC1050269" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Genetic%20multiple%20congenital%20anomalies%2Fdysmorphic%20syndrome%20without%20intellectual%20disability%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 (6474)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31787159">Radial Ray Malformation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Society for Maternal-Fetal Medicine (SMFM),
|
||
Gandhi M,
|
||
Rac MWF,
|
||
McKinney J</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2019 Dec;221(6):B16-B18.
|
||
doi: 10.1016/j.ajog.2019.09.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31787159" target="_blank">31787159</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27600794">Risk factors for Down syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coppedè F</span><br />
|
||
<span class="medgenPMjournal">Arch Toxicol</span>
|
||
2016 Dec;90(12):2917-2929.
|
||
Epub 2016 Sep 7
|
||
doi: 10.1007/s00204-016-1843-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27600794" target="_blank">27600794</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26013035">HDAC8: a multifaceted target for therapeutic interventions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chakrabarti A,
|
||
Oehme I,
|
||
Witt O,
|
||
Oliveira G,
|
||
Sippl W,
|
||
Romier C,
|
||
Pierce RJ,
|
||
Jung M</span><br />
|
||
<span class="medgenPMjournal">Trends Pharmacol Sci</span>
|
||
2015 Jul;36(7):481-92.
|
||
Epub 2015 May 23
|
||
doi: 10.1016/j.tips.2015.04.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26013035" target="_blank">26013035</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18174705">KIGS: 20 years.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ranke M</span><br />
|
||
<span class="medgenPMjournal">Horm Res</span>
|
||
2007;68 Suppl 5:40.
|
||
Epub 2007 Dec 10
|
||
doi: 10.1159/000110473.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18174705" target="_blank">18174705</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9734553">Prader-Willi syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martin A,
|
||
State M,
|
||
Koenig K,
|
||
Schultz R,
|
||
Dykens EM,
|
||
Cassidy SB,
|
||
Leckman JF</span><br />
|
||
<span class="medgenPMjournal">Am J Psychiatry</span>
|
||
1998 Sep;155(9):1265-73.
|
||
doi: 10.1176/ajp.155.9.1265.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9734553" target="_blank">9734553</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Genetic%20multiple%20congenital%20anomalies%2Fdysmorphic%20syndrome%20without%20intellectual%20disability%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 (1022)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38277088">A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carvalho LML,
|
||
Jorge AAL,
|
||
Bertola DR,
|
||
Krepischi ACV,
|
||
Rosenberg C</span><br />
|
||
<span class="medgenPMjournal">Curr Obes Rep</span>
|
||
2024 Jun;13(2):313-337.
|
||
Epub 2024 Jan 26
|
||
doi: 10.1007/s13679-023-00543-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38277088" target="_blank">38277088</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/24295820">Down syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hobson-Rohrer WL,
|
||
Samson-Fang L</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rev</span>
|
||
2013 Dec;34(12):573-4; discussion 574.
|
||
doi: 10.1542/pir.34-12-573.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24295820" target="_blank">24295820</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22768674">Warburg Micro syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dursun F,
|
||
Güven A,
|
||
Morris-Rosendahl D</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2012;25(3-4):379-82.
|
||
doi: 10.1515/jpem-2011-0459.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22768674" target="_blank">22768674</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20920258">Acro-cardio-facial syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Digilio MC,
|
||
Dallapiccola B</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2010 Sep 29;5:25.
|
||
doi: 10.1186/1750-1172-5-25.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20920258" target="_blank">20920258</a><a href="/pmc/articles/PMC2955584" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Genetic%20multiple%20congenital%20anomalies%2Fdysmorphic%20syndrome%20without%20intellectual%20disability%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 (1988)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36446582">Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martinez-Cayuelas E,
|
||
Blanco-Kelly F,
|
||
Lopez-Grondona F,
|
||
Swafiri ST,
|
||
Lopez-Rodriguez R,
|
||
Losada-Del Pozo R,
|
||
Mahillo-Fernandez I,
|
||
Moreno B,
|
||
Rodrigo-Moreno M,
|
||
Casas-Alba D,
|
||
Lopez-Gonzalez A,
|
||
García-Miñaúr S,
|
||
Ángeles Mori M,
|
||
Pacio-Minguez M,
|
||
Rikeros-Orozco E,
|
||
Santos-Simarro F,
|
||
Cruz-Rojo J,
|
||
Quesada-Espinosa JF,
|
||
Sanchez-Calvin MT,
|
||
Sanchez-Del Pozo J,
|
||
Bernado Fonz R,
|
||
Isidoro-Garcia M,
|
||
Ruiz-Ayucar I,
|
||
Alvarez-Mora MI,
|
||
Blanco-Lago R,
|
||
De Azua B,
|
||
Eiris J,
|
||
Garcia-Peñas JJ,
|
||
Gil-Fournier B,
|
||
Gomez-Lado C,
|
||
Irazabal N,
|
||
Lopez-Gonzalez V,
|
||
Madrigal I,
|
||
Malaga I,
|
||
Martinez-Menendez B,
|
||
Ramiro-Leon S,
|
||
Garcia-Hoyos M,
|
||
Prieto-Matos P,
|
||
Lopez-Pison J,
|
||
Aguilera-Albesa S,
|
||
Alvarez S,
|
||
Fernández-Jaén A,
|
||
Llano-Rivas I,
|
||
Gener-Querol B,
|
||
Ayuso C,
|
||
Arteche-Lopez A,
|
||
Palomares-Bralo M,
|
||
Cueto-González A,
|
||
Valenzuela I,
|
||
Martinez-Monseny A,
|
||
Lorda-Sanchez I,
|
||
Almoguera B</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2023 Jul;60(7):644-654.
|
||
Epub 2022 Nov 29
|
||
doi: 10.1136/jmg-2022-108632.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36446582" target="_blank">36446582</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36373844">Anxiety in Wiedemann-Steiner syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ng R,
|
||
Bjornsson HT,
|
||
Fahrner JA,
|
||
Harris J</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2023 Feb;191(2):437-444.
|
||
Epub 2022 Nov 14
|
||
doi: 10.1002/ajmg.a.63040.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36373844" target="_blank">36373844</a><a href="/pmc/articles/PMC9907226" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31388190">The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weiss K,
|
||
Lazar HP,
|
||
Kurolap A,
|
||
Martinez AF,
|
||
Paperna T,
|
||
Cohen L,
|
||
Smeland MF,
|
||
Whalen S,
|
||
Heide S,
|
||
Keren B,
|
||
Terhal P,
|
||
Irving M,
|
||
Takaku M,
|
||
Roberts JD,
|
||
Petrovich RM,
|
||
Schrier Vergano SA,
|
||
Kenney A,
|
||
Hove H,
|
||
DeChene E,
|
||
Quinonez SC,
|
||
Colin E,
|
||
Ziegler A,
|
||
Rumple M,
|
||
Jain M,
|
||
Monteil D,
|
||
Roeder ER,
|
||
Nugent K,
|
||
van Haeringen A,
|
||
Gambello M,
|
||
Santani A,
|
||
Medne L,
|
||
Krock B,
|
||
Skraban CM,
|
||
Zackai EH,
|
||
Dubbs HA,
|
||
Smol T,
|
||
Ghoumid J,
|
||
Parker MJ,
|
||
Wright M,
|
||
Turnpenny P,
|
||
Clayton-Smith J,
|
||
Metcalfe K,
|
||
Kurumizaka H,
|
||
Gelb BD,
|
||
Baris Feldman H,
|
||
Campeau PM,
|
||
Muenke M,
|
||
Wade PA,
|
||
Lachlan K</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2020 Feb;22(2):389-397.
|
||
Epub 2019 Aug 7
|
||
doi: 10.1038/s41436-019-0612-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31388190" target="_blank">31388190</a><a href="/pmc/articles/PMC8900827" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30683921">CUGC for Simpson-Golabi-Behmel syndrome (SGBS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vuillaume ML,
|
||
Moizard MP,
|
||
Baumer A,
|
||
Cottereau E,
|
||
Brioude F,
|
||
Rauch A,
|
||
Toutain A</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2019 Apr;27(4):663-668.
|
||
Epub 2019 Jan 25
|
||
doi: 10.1038/s41431-019-0339-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30683921" target="_blank">30683921</a><a href="/pmc/articles/PMC6460641" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25169814">The ARID1B phenotype: what we have learned so far.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santen GW,
|
||
Clayton-Smith J;
|
||
ARID1B-CSS consortium</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2014 Sep;166C(3):276-89.
|
||
Epub 2014 Aug 28
|
||
doi: 10.1002/ajmg.c.31414.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25169814" target="_blank">25169814</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Genetic%20multiple%20congenital%20anomalies%2Fdysmorphic%20syndrome%20without%20intellectual%20disability%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 (3390)</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/36526544">Clinical and epilepsy characteristics in Wolf-Hirschhorn syndrome (4p-): A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paprocka J,
|
||
Kaminiów K,
|
||
Yetkin O,
|
||
Tekturk P,
|
||
Baykan B,
|
||
Leiz S,
|
||
Kluger G,
|
||
Striano P</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2024 Mar;116:14-23.
|
||
Epub 2022 Dec 8
|
||
doi: 10.1016/j.seizure.2022.12.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36526544" target="_blank">36526544</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35946706">Autism and Down syndrome: early identification and diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Diniz NLF,
|
||
Parlato-Oliveira E,
|
||
Pimenta PGA,
|
||
Araújo LA,
|
||
Valadares ER</span><br />
|
||
<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
|
||
2022 Jun;80(6):620-630.
|
||
doi: 10.1590/0004-282X-ANP-2021-0156.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35946706" target="_blank">35946706</a><a href="/pmc/articles/PMC9387185" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32920658">Neurologic complications of Down syndrome: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santoro JD,
|
||
Pagarkar D,
|
||
Chu DT,
|
||
Rosso M,
|
||
Paulsen KC,
|
||
Levitt P,
|
||
Rafii MS</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2021 Dec;268(12):4495-4509.
|
||
Epub 2020 Sep 12
|
||
doi: 10.1007/s00415-020-10179-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32920658" target="_blank">32920658</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26781507">Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Taylor-Phillips S,
|
||
Freeman K,
|
||
Geppert J,
|
||
Agbebiyi A,
|
||
Uthman OA,
|
||
Madan J,
|
||
Clarke A,
|
||
Quenby S,
|
||
Clarke A</span><br />
|
||
<span class="medgenPMjournal">BMJ Open</span>
|
||
2016 Jan 18;6(1):e010002.
|
||
doi: 10.1136/bmjopen-2015-010002.
|
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<span class="bold">PMID: </span><a href="/pubmed/26781507" target="_blank">26781507</a><a href="/pmc/articles/PMC4735304" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Deal CL,
|
||
Tony M,
|
||
Höybye C,
|
||
Allen DB,
|
||
Tauber M,
|
||
Christiansen JS;
|
||
2011 Growth Hormone in Prader-Willi Syndrome Clinical Care Guidelines Workshop Participants</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2013 Jun;98(6):E1072-87.
|
||
Epub 2013 Mar 29
|
||
doi: 10.1210/jc.2012-3888.
|
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<span class="bold">PMID: </span><a href="/pubmed/23543664" target="_blank">23543664</a><a href="/pmc/articles/PMC3789886" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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