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<!--
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UID=1826158
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ConceptID=C5680372
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Multiple congenital anomalies/dysmorphic syndrome-intellectual disability</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1826158</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.">C5680372</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>MCA/MR; Multiple congenital anomalies-intellectual disability with or without dysmorphism; multiple congenital anomalies-intellectual disability with or without dysmorphism; multiple congenital anomalies/dysmorphic syndrome-intellectual disability</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0015159" target="_blank">MONDO:0015159</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=102283">ORPHA102283</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 mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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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="TLline">Multiple congenital anomalies/dysmorphic syndrome-intellectual disability</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="matched_ds">Multiple congenital anomalies/dysmorphic syndrome-intellectual disability</span><ul><li><span class="TLline"><a href="/medgen/64512" ref="tree=MeSH" title="MedGen record for 11p partial monosomy syndrome">11p partial monosomy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1660019" ref="tree=MeSH" title="MedGen record for 11p15.4 microduplication syndrome">11p15.4 microduplication syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1805294" ref="tree=MeSH" title="MedGen record for 11q22.2q22.3 microdeletion syndrome">11q22.2q22.3 microdeletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/930809" ref="tree=MeSH" title="MedGen record for 12q14 microdeletion syndrome">12q14 microdeletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1657124" ref="tree=MeSH" title="MedGen record for 13q12.3 microdeletion syndrome">13q12.3 microdeletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1668571" ref="tree=MeSH" title="MedGen record for 14q24.1q24.3 microdeletion syndrome">14q24.1q24.3 microdeletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1661769" ref="tree=MeSH" title="MedGen record for 15q overgrowth syndrome">15q overgrowth syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/766772" ref="tree=MeSH" title="MedGen record for Distal tetrasomy 15q">Distal tetrasomy 15q</a></span></li><li><span class="TLline"><a href="/medgen/419879" ref="tree=MeSH" title="MedGen record for Distal trisomy 15q">Distal trisomy 15q</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1814451" ref="tree=MeSH" title="MedGen record for 16p12.1p12.3 triplication syndrome">16p12.1p12.3 triplication syndrome</a></span></li><li><span class="TLline"><a href="/medgen/501218" ref="tree=MeSH" title="MedGen record for 17q11.2 microduplication syndrome">17q11.2 microduplication syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1808156" ref="tree=MeSH" title="MedGen record for 17q24.2 microdeletion syndrome">17q24.2 microdeletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1807189" ref="tree=MeSH" title="MedGen record for 19p13.3 microduplication syndrome">19p13.3 microduplication syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1807819" ref="tree=MeSH" title="MedGen record for 1p35.2 microdeletion syndrome">1p35.2 microdeletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1655817" ref="tree=MeSH" title="MedGen record for 20p13 microdeletion syndrome">20p13 microdeletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1810637" ref="tree=MeSH" title="MedGen record for 20q11.2 microdeletion syndrome">20q11.2 microdeletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1639138" ref="tree=MeSH" title="MedGen record for 20q11.2 microduplication syndrome">20q11.2 microduplication syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1681958" ref="tree=MeSH" title="MedGen record for 21q22.11q22.12 microdeletion syndrome">21q22.11q22.12 microdeletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/977689" ref="tree=MeSH" title="MedGen record for 22q11.2 deletion syndrome">22q11.2 deletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1662313" ref="tree=MeSH" title="MedGen record for 2p13.2 microdeletion syndrome">2p13.2 microdeletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/930201" ref="tree=MeSH" title="MedGen record for 2q23.1 microdeletion syndrome">2q23.1 microdeletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1647644" ref="tree=MeSH" title="MedGen record for 2q23.1 microduplication syndrome">2q23.1 microduplication syndrome</a></span></li><li><span class="TLline"><a href="/medgen/929529" ref="tree=MeSH" title="MedGen record for 3MC syndrome">3MC syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1651953" ref="tree=MeSH" title="MedGen record for 3q27.3 microdeletion syndrome">3q27.3 microdeletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/452344" ref="tree=MeSH" title="MedGen record for 48,XXXY syndrome">48,XXXY syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1371767" ref="tree=MeSH" title="MedGen record for 48,XYYY syndrome">48,XYYY syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75573" ref="tree=MeSH" title="MedGen record for 49,XXXXY syndrome">49,XXXXY syndrome</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/1814447" ref="tree=MeSH" title="MedGen record for 4q25 proximal deletion syndrome">4q25 proximal deletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/930198" ref="tree=MeSH" title="MedGen record for 5q14.3 microdeletion syndrome">5q14.3 microdeletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1641886" ref="tree=MeSH" title="MedGen record for 7p22.1 microduplication syndrome">7p22.1 microduplication syndrome</a></span></li><li><span class="TLline"><a href="/medgen/816353" ref="tree=MeSH" title="MedGen record for 8q24.3 microdeletion syndrome">8q24.3 microdeletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1635922" ref="tree=MeSH" title="MedGen record for 9p13 microdeletion syndrome">9p13 microdeletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1665719" ref="tree=MeSH" title="MedGen record for 9q31.1q31.3 microdeletion syndrome">9q31.1q31.3 microdeletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1811810" ref="tree=MeSH" title="MedGen record for 9q33.3q34.11 microdeletion syndrome">9q33.3q34.11 microdeletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/395439" ref="tree=MeSH" title="MedGen record for Ablepharon macrostomia syndrome">Ablepharon macrostomia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/162915" ref="tree=MeSH" title="MedGen record for Acrocallosal syndrome">Acrocallosal syndrome</a></span></li><li><span class="TLline"><a href="/medgen/324947" ref="tree=MeSH" title="MedGen record for Acrocardiofacial syndrome">Acrocardiofacial syndrome</a></span></li><li><span class="TLline"><a href="/medgen/7858" ref="tree=MeSH" title="MedGen record for Acrocephalosyndactyly type I">Acrocephalosyndactyly type I</a></span></li><li><span class="TLline"><a href="/medgen/349730" ref="tree=MeSH" title="MedGen record for Acrofacial dysostosis Rodriguez type">Acrofacial dysostosis Rodriguez type</a></span></li><li><span class="TLline"><a href="/medgen/419487" ref="tree=MeSH" title="MedGen record for Acrofacial dysostosis, Catania type">Acrofacial dysostosis, Catania type</a></span></li><li><span class="TLline"><a href="/medgen/350933" ref="tree=MeSH" title="MedGen record for Acromelic frontonasal dysostosis">Acromelic frontonasal dysostosis</a></span></li><li><span class="TLline"><a href="/medgen/78544" ref="tree=MeSH" title="MedGen record for Adams-Oliver syndrome">Adams-Oliver syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1635567" ref="tree=MeSH" title="MedGen record for Adams-Oliver syndrome 1">Adams-Oliver syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/481812" ref="tree=MeSH" title="MedGen record for Adams-Oliver syndrome 2">Adams-Oliver syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/766662" ref="tree=MeSH" title="MedGen record for Adams-Oliver syndrome 3">Adams-Oliver syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/815422" ref="tree=MeSH" title="MedGen record for Adams-Oliver syndrome 4">Adams-Oliver syndrome 4</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/862975" ref="tree=MeSH" title="MedGen record for ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder">ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder</a></span></li><li><span class="TLline"><a href="/medgen/351236" ref="tree=MeSH" title="MedGen record for Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome">Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/162893" ref="tree=MeSH" title="MedGen record for Agenesis of the corpus callosum with peripheral neuropathy">Agenesis of the corpus callosum with peripheral neuropathy</a></span></li><li><span class="TLline"><a href="/medgen/354928" ref="tree=MeSH" title="MedGen record for Aglossia-adactyly syndrome">Aglossia-adactyly syndrome</a></span></li><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/332474" ref="tree=MeSH" title="MedGen record for AICA-ribosiduria">AICA-ribosiduria</a></span></li><li><span class="TLline"><a href="/medgen/1634304" ref="tree=MeSH" title="MedGen record for Alkuraya-Kucinskas syndrome">Alkuraya-Kucinskas syndrome</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/321990" ref="tree=MeSH" title="MedGen record for Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome">Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/337145" ref="tree=MeSH" title="MedGen record for Alpha thalassemia-X-linked intellectual disability syndrome">Alpha thalassemia-X-linked intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/337424" ref="tree=MeSH" title="MedGen record for Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome">Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1794138" ref="tree=MeSH" title="MedGen record for Anencephaly 1">Anencephaly 1</a></span><ul><li><span class="TLline"><a href="/medgen/992686" ref="tree=MeSH" title="MedGen record for Isolated anencephaly">Isolated anencephaly</a></span></li><li><span class="TLline"><a href="/medgen/991306" ref="tree=MeSH" title="MedGen record for Isolated exencephaly">Isolated exencephaly</a></span></li></ul></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/419752" ref="tree=MeSH" title="MedGen record for Aniridia - intellectual disability syndrome">Aniridia - intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/929405" ref="tree=MeSH" title="MedGen record for Aniridia-ptosis-intellectual disability-familial obesity syndrome">Aniridia-ptosis-intellectual disability-familial obesity syndrome</a></span></li><li><span class="TLline"><a href="/medgen/347952" ref="tree=MeSH" title="MedGen record for Aniridia-renal agenesis-psychomotor retardation syndrome">Aniridia-renal agenesis-psychomotor retardation syndrome</a></span></li><li><span class="TLline"><a href="/medgen/347232" ref="tree=MeSH" title="MedGen record for Anophthalmia/microphthalmia-esophageal atresia syndrome">Anophthalmia/microphthalmia-esophageal atresia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1714404" ref="tree=MeSH" title="MedGen record for Antley-Bixler syndrome">Antley-Bixler syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/461449" ref="tree=MeSH" title="MedGen record for Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis">Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis</a></span></li><li><span class="TLline"><a href="/medgen/422448" ref="tree=MeSH" title="MedGen record for Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis">Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/350734" ref="tree=MeSH" title="MedGen record for Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome">Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1651057" ref="tree=MeSH" title="MedGen record for Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome">Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419792" ref="tree=MeSH" title="MedGen record for Arachnodactyly-abnormal ossification-intellectual disability syndrome">Arachnodactyly-abnormal ossification-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/929699" ref="tree=MeSH" title="MedGen record for Arachnodactyly-intellectual disability-dysmorphism syndrome">Arachnodactyly-intellectual disability-dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/375800" ref="tree=MeSH" title="MedGen record for Armfield syndrome">Armfield syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1648372" ref="tree=MeSH" title="MedGen record for Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development">Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development</a></span></li><li><span class="TLline"><a href="/medgen/1655873" ref="tree=MeSH" title="MedGen record for Ataxia-photosensitivity-short stature syndrome">Ataxia-photosensitivity-short stature syndrome</a></span></li><li><span class="TLline"><a href="/medgen/338072" ref="tree=MeSH" title="MedGen record for Atelosteogenesis type II">Atelosteogenesis type II</a></span></li><li><span class="TLline"><a href="/medgen/777149" ref="tree=MeSH" title="MedGen record for Atelosteogenesis type III">Atelosteogenesis type III</a></span></li><li><span class="TLline"><a href="/medgen/163230" ref="tree=MeSH" title="MedGen record for Atkin-Flaitz syndrome">Atkin-Flaitz syndrome</a></span></li><li><span class="TLline"><a href="/medgen/862872" ref="tree=MeSH" title="MedGen record for Autism spectrum disorder due to AUTS2 deficiency">Autism spectrum disorder due to AUTS2 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/903767" ref="tree=MeSH" title="MedGen record for Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome">Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1844082" ref="tree=MeSH" title="MedGen record for Autosomal dominant popliteal pterygium syndrome">Autosomal dominant popliteal pterygium syndrome</a></span></li><li><span class="TLline"><a href="/medgen/66319" ref="tree=MeSH" title="MedGen record for Autosomal dominant primary microcephaly">Autosomal dominant primary microcephaly</a></span></li><li><span class="TLline"><a href="/medgen/502889" ref="tree=MeSH" title="MedGen record for Autosomal recessive chorioretinopathy-microcephaly syndrome">Autosomal recessive chorioretinopathy-microcephaly syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/480111" ref="tree=MeSH" title="MedGen record for Microcephaly and chorioretinopathy 1">Microcephaly and chorioretinopathy 1</a></span></li><li><span class="TLline"><a href="/medgen/863825" ref="tree=MeSH" title="MedGen record for Microcephaly and chorioretinopathy 2">Microcephaly and chorioretinopathy 2</a></span></li><li><span class="TLline"><a href="/medgen/902924" ref="tree=MeSH" title="MedGen record for Microcephaly and chorioretinopathy 3">Microcephaly and chorioretinopathy 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/376714" ref="tree=MeSH" title="MedGen record for Autosomal recessive distal osteolysis syndrome">Autosomal recessive distal osteolysis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/777995" ref="tree=MeSH" title="MedGen record for Autosomal recessive primary microcephaly">Autosomal recessive primary microcephaly</a></span><ul><li><span class="TLline"><a href="/medgen/767413" ref="tree=MeSH" title="MedGen record for Microcephalic primordial dwarfism due to ZNF335 deficiency">Microcephalic primordial dwarfism due to ZNF335 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/344415" ref="tree=MeSH" title="MedGen record for Microcephaly 1, primary, autosomal recessive">Microcephaly 1, primary, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/815761" ref="tree=MeSH" title="MedGen record for Microcephaly 11, primary, autosomal recessive">Microcephaly 11, primary, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/863593" ref="tree=MeSH" title="MedGen record for Microcephaly 12, primary, autosomal recessive">Microcephaly 12, primary, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/863517" ref="tree=MeSH" title="MedGen record for Microcephaly 13, primary, autosomal recessive">Microcephaly 13, primary, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/906798" ref="tree=MeSH" title="MedGen record for Microcephaly 14, primary, autosomal recessive">Microcephaly 14, primary, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/895496" ref="tree=MeSH" title="MedGen record for Microcephaly 15, primary, autosomal recessive">Microcephaly 15, primary, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/346929" ref="tree=MeSH" title="MedGen record for Microcephaly 2, primary, autosomal recessive, with or without cortical malformations">Microcephaly 2, primary, autosomal recessive, with or without cortical malformations</a></span></li><li><span class="TLline"><a href="/medgen/347619" ref="tree=MeSH" title="MedGen record for Microcephaly 3, primary, autosomal recessive">Microcephaly 3, primary, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/347655" ref="tree=MeSH" title="MedGen record for Microcephaly 4, primary, autosomal recessive">Microcephaly 4, primary, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/373344" ref="tree=MeSH" title="MedGen record for Microcephaly 5, primary, autosomal recessive">Microcephaly 5, primary, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/330770" ref="tree=MeSH" title="MedGen record for Microcephaly 6, primary, autosomal recessive">Microcephaly 6, primary, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/436370" ref="tree=MeSH" title="MedGen record for Microcephaly 7, primary, autosomal recessive">Microcephaly 7, primary, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/766328" ref="tree=MeSH" title="MedGen record for Microcephaly 8, primary, autosomal recessive">Microcephaly 8, primary, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/766800" ref="tree=MeSH" title="MedGen record for Microcephaly 9, primary, autosomal recessive">Microcephaly 9, primary, autosomal recessive</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1684324" ref="tree=MeSH" title="MedGen record for Autosomal recessive spinocerebellar ataxia 20">Autosomal recessive spinocerebellar ataxia 20</a></span></li><li><span class="TLline"><a href="/medgen/78554" ref="tree=MeSH" title="MedGen record for Bannayan-Riley-Ruvalcaba syndrome">Bannayan-Riley-Ruvalcaba 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/945467" ref="tree=MeSH" title="MedGen record for Berardinelli-Seip congenital lipodystrophy">Berardinelli-Seip congenital lipodystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/67438" ref="tree=MeSH" title="MedGen record for Congenital generalized lipodystrophy">Congenital generalized lipodystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/318592" ref="tree=MeSH" title="MedGen record for Congenital generalized lipodystrophy type 1">Congenital generalized lipodystrophy type 1</a></span></li><li><span class="TLline"><a href="/medgen/318593" ref="tree=MeSH" title="MedGen record for Congenital generalized lipodystrophy type 2">Congenital generalized lipodystrophy type 2</a></span></li><li><span class="TLline"><a href="/medgen/436541" ref="tree=MeSH" title="MedGen record for Congenital generalized lipodystrophy type 3">Congenital generalized lipodystrophy type 3</a></span></li><li><span class="TLline"><a href="/medgen/412871" ref="tree=MeSH" title="MedGen record for Congenital generalized lipodystrophy type 4">Congenital generalized lipodystrophy type 4</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/813897" ref="tree=MeSH" title="MedGen record for Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome">Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/347159" ref="tree=MeSH" title="MedGen record for Biemond syndrome type 2">Biemond syndrome type 2</a></span></li><li><span class="TLline"><a href="/medgen/347890" ref="tree=MeSH" title="MedGen record for Bird headed-dwarfism, Montreal type">Bird headed-dwarfism, Montreal type</a></span></li><li><span class="TLline"><a href="/medgen/163226" ref="tree=MeSH" title="MedGen record for Blepharonasofacial malformation syndrome">Blepharonasofacial malformation syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1761196" ref="tree=MeSH" title="MedGen record for Blepharophimosis-ptosis-epicanthus inversus syndrome plus">Blepharophimosis-ptosis-epicanthus inversus syndrome plus</a></span></li><li><span class="TLline"><a href="/medgen/208678" ref="tree=MeSH" title="MedGen record for Bohring-Opitz syndrome">Bohring-Opitz syndrome</a></span></li><li><span class="TLline"><a href="/medgen/346482" ref="tree=MeSH" title="MedGen record for Bonnemann-Meinecke-Reich syndrome">Bonnemann-Meinecke-Reich syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78557" ref="tree=MeSH" title="MedGen record for Borjeson-Forssman-Lehmann syndrome">Borjeson-Forssman-Lehmann syndrome</a></span></li><li><span class="TLline"><a href="/medgen/321908" ref="tree=MeSH" title="MedGen record for Bosley-Salih-Alorainy syndrome">Bosley-Salih-Alorainy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/349160" ref="tree=MeSH" title="MedGen record for Bowen-Conradi syndrome">Bowen-Conradi syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1645467" ref="tree=MeSH" title="MedGen record for Brachydactyly-mesomelia-intellectual disability-heart defects syndrome">Brachydactyly-mesomelia-intellectual disability-heart defects syndrome</a></span></li><li><span class="TLline"><a href="/medgen/350589" ref="tree=MeSH" title="MedGen record for Brachydactyly-nystagmus-cerebellar ataxia syndrome">Brachydactyly-nystagmus-cerebellar ataxia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/350585" ref="tree=MeSH" title="MedGen record for Brachymorphism-onychodysplasia-dysphalangism syndrome">Brachymorphism-onychodysplasia-dysphalangism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/929214" ref="tree=MeSH" title="MedGen record for Brain malformation-congenital heart disease-postaxial polydactyly syndrome">Brain malformation-congenital heart disease-postaxial polydactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/322970" ref="tree=MeSH" title="MedGen record for Branchiogenic deafness syndrome">Branchiogenic deafness syndrome</a></span></li><li><span class="TLline"><a href="/medgen/502868" ref="tree=MeSH" title="MedGen record for BRESEK syndrome">BRESEK syndrome</a></span></li><li><span class="TLline"><a href="/medgen/167105" ref="tree=MeSH" title="MedGen record for C syndrome">C syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1387501" ref="tree=MeSH" title="MedGen record for CAMOS syndrome">CAMOS syndrome</a></span></li><li><span class="TLline"><a href="/medgen/347864" ref="tree=MeSH" title="MedGen record for Campomelia, Cumming type">Campomelia, Cumming type</a></span></li><li><span class="TLline"><a href="/medgen/394371" ref="tree=MeSH" title="MedGen record for Camptodactyly syndrome, Guadalajara type 3">Camptodactyly syndrome, Guadalajara type 3</a></span></li><li><span class="TLline"><a href="/medgen/1848853" ref="tree=MeSH" title="MedGen record for Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia">Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/354620" ref="tree=MeSH" title="MedGen record for Camptomelic dysplasia">Camptomelic dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/396251" ref="tree=MeSH" title="MedGen record for Acampomelic campomelic dysplasia">Acampomelic campomelic dysplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/900924" ref="tree=MeSH" title="MedGen record for Cardiac anomalies - developmental delay - facial dysmorphism syndrome">Cardiac anomalies - developmental delay - facial dysmorphism 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/346598" ref="tree=MeSH" title="MedGen record for Cardiocranial syndrome, Pfeiffer type">Cardiocranial syndrome, Pfeiffer type</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/419760" ref="tree=MeSH" title="MedGen record for Cataract-deafness-hypogonadism syndrome">Cataract-deafness-hypogonadism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/375536" ref="tree=MeSH" title="MedGen record for Catel-Manzke syndrome">Catel-Manzke syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419843" ref="tree=MeSH" title="MedGen record for Caudal appendage-deafness syndrome">Caudal appendage-deafness syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1842919" ref="tree=MeSH" title="MedGen record for CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome">CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1780242" ref="tree=MeSH" title="MedGen record for Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome">Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome</a></span></li><li><span class="TLline"><a href="/medgen/863932" ref="tree=MeSH" title="MedGen record for Cerebellar-facial-dental syndrome">Cerebellar-facial-dental syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120537" ref="tree=MeSH" title="MedGen record for Cerebro-costo-mandibular syndrome">Cerebro-costo-mandibular syndrome</a></span></li><li><span class="TLline"><a href="/medgen/340138" ref="tree=MeSH" title="MedGen record for Cerebrooculonasal syndrome">Cerebrooculonasal syndrome</a></span></li><li><span class="TLline"><a href="/medgen/358356" ref="tree=MeSH" title="MedGen record for Char syndrome">Char syndrome</a></span></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/341214" ref="tree=MeSH" title="MedGen record for CHIME syndrome">CHIME syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1830104" ref="tree=MeSH" title="MedGen record for Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome">Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome</a></span></li><li><span class="TLline"><a href="/medgen/394455" ref="tree=MeSH" title="MedGen record for Christianson syndrome">Christianson syndrome</a></span></li><li><span class="TLline"><a href="/medgen/393784" ref="tree=MeSH" title="MedGen record for Chromosome 15q13.3 microdeletion syndrome">Chromosome 15q13.3 microdeletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/814630" ref="tree=MeSH" title="MedGen record for Chromosome 17p13.3 duplication syndrome">Chromosome 17p13.3 duplication syndrome</a></span></li><li><span class="TLline"><a href="/medgen/901723" ref="tree=MeSH" title="MedGen record for Chromosome 17q21.31 duplication syndrome">Chromosome 17q21.31 duplication syndrome</a></span></li><li><span class="TLline"><a href="/medgen/462244" ref="tree=MeSH" title="MedGen record for Chromosome 19p13.13 deletion syndrome">Chromosome 19p13.13 deletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/414432" ref="tree=MeSH" title="MedGen record for Chromosome 19q13.11 deletion syndrome">Chromosome 19q13.11 deletion syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/935015" ref="tree=MeSH" title="MedGen record for Chromosome 19q13.11 deletion syndrome, distal">Chromosome 19q13.11 deletion syndrome, distal</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1636078" ref="tree=MeSH" title="MedGen record for Chromosome 1p32-p31 deletion syndrome">Chromosome 1p32-p31 deletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/436765" ref="tree=MeSH" title="MedGen record for Chromosome 2q32-q33 deletion syndrome">Chromosome 2q32-q33 deletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419169" ref="tree=MeSH" title="MedGen record for Chromosome 2q37 deletion syndrome">Chromosome 2q37 deletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/416385" ref="tree=MeSH" title="MedGen record for Chromosome 5p13 duplication syndrome">Chromosome 5p13 duplication syndrome</a></span></li><li><span class="TLline"><a href="/medgen/816612" ref="tree=MeSH" title="MedGen record for Chromosome 5q12 deletion syndrome">Chromosome 5q12 deletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/393396" ref="tree=MeSH" title="MedGen record for Chromosome 6pter-p24 deletion syndrome">Chromosome 6pter-p24 deletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/481861" ref="tree=MeSH" title="MedGen record for Chromosome 8q21.11 deletion syndrome">Chromosome 8q21.11 deletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/440690" ref="tree=MeSH" title="MedGen record for Chromosome Xp11.23-p11.22 duplication syndrome">Chromosome Xp11.23-p11.22 duplication syndrome</a></span></li><li><span class="TLline"><a href="/medgen/443983" ref="tree=MeSH" title="MedGen record for Clark-Baraitser syndrome">Clark-Baraitser syndrome</a></span></li><li><span class="TLline"><a href="/medgen/930373" ref="tree=MeSH" title="MedGen record for Cleft palate-short stature-vertebral anomalies syndrome">Cleft palate-short stature-vertebral anomalies syndrome</a></span></li><li><span class="TLline"><a href="/medgen/387879" ref="tree=MeSH" title="MedGen record for COACH syndrome">COACH syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1769861" ref="tree=MeSH" title="MedGen record for COACH syndrome 1">COACH syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1752166" ref="tree=MeSH" title="MedGen record for COACH syndrome 2">COACH syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/1755565" ref="tree=MeSH" title="MedGen record for COACH syndrome 3">COACH syndrome 3</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/333031" ref="tree=MeSH" title="MedGen record for CODAS syndrome">CODAS syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75556" ref="tree=MeSH" title="MedGen record for Coffin-Lowry syndrome">Coffin-Lowry syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75565" ref="tree=MeSH" title="MedGen record for Coffin-Siris syndrome">Coffin-Siris syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419311" ref="tree=MeSH" title="MedGen record for COG7 congenital disorder of glycosylation">COG7 congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/894554" ref="tree=MeSH" title="MedGen record for Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome">Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78539" ref="tree=MeSH" title="MedGen record for Cohen syndrome">Cohen syndrome</a></span></li><li><span class="TLline"><a href="/medgen/400954" ref="tree=MeSH" title="MedGen record for Colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome">Colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/442377" ref="tree=MeSH" title="MedGen record for Combined immunodeficiency with faciooculoskeletal anomalies">Combined immunodeficiency with faciooculoskeletal anomalies</a></span></li><li><span class="TLline"><a href="/medgen/814727" ref="tree=MeSH" title="MedGen record for Complex cortical dysplasia with other brain malformations 1">Complex cortical dysplasia with other brain malformations 1</a></span></li><li><span class="TLline"><a href="/medgen/765150" ref="tree=MeSH" title="MedGen record for Complex cortical dysplasia with other brain malformations 7">Complex cortical dysplasia with other brain malformations 7</a></span></li><li><span class="TLline"><a href="/medgen/897292" ref="tree=MeSH" title="MedGen record for Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome">Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/346973" ref="tree=MeSH" title="MedGen record for Congenital cataracts-facial dysmorphism-neuropathy syndrome">Congenital cataracts-facial dysmorphism-neuropathy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/907234" ref="tree=MeSH" title="MedGen record for Congenital contractures of the limbs and face, hypotonia, and developmental delay">Congenital contractures of the limbs and face, hypotonia, and developmental delay</a></span></li><li><span class="TLline"><a href="/medgen/167108" ref="tree=MeSH" title="MedGen record for Congenital heart defect-round face-developmental delay syndrome">Congenital heart defect-round face-developmental delay syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1798878" ref="tree=MeSH" title="MedGen record for Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome">Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/338115" ref="tree=MeSH" title="MedGen record for Congenital nonprogressive myopathy with Moebius and Robin sequences">Congenital nonprogressive myopathy with Moebius and Robin sequences</a></span><ul><li><span class="TLline"><a href="/medgen/1804638" ref="tree=MeSH" title="MedGen record for Carey-Fineman-Ziter syndrome 1">Carey-Fineman-Ziter syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1800921" ref="tree=MeSH" title="MedGen record for Carey-Fineman-Ziter syndrome 2">Carey-Fineman-Ziter syndrome 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1799320" ref="tree=MeSH" title="MedGen record for Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome">Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1638945" ref="tree=MeSH" title="MedGen record for Cono-spondylar dysplasia">Cono-spondylar dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1805516" ref="tree=MeSH" title="MedGen record for Contractures-developmental delay-Pierre Robin syndrome">Contractures-developmental delay-Pierre Robin syndrome</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/347912" ref="tree=MeSH" title="MedGen record for Cooper-Jabs syndrome">Cooper-Jabs syndrome</a></span></li><li><span class="TLline"><a href="/medgen/341379" ref="tree=MeSH" title="MedGen record for Corneal-cerebellar syndrome">Corneal-cerebellar syndrome</a></span></li><li><span class="TLline"><a href="/medgen/335185" ref="tree=MeSH" title="MedGen record for Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome">Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1801729" ref="tree=MeSH" title="MedGen record for Corpus callosum agenesis-macrocephaly-hypertelorism syndrome">Corpus callosum agenesis-macrocephaly-hypertelorism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/347487" ref="tree=MeSH" title="MedGen record for Cortical blindness-intellectual disability-polydactyly syndrome">Cortical blindness-intellectual disability-polydactyly 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/387847" ref="tree=MeSH" title="MedGen record for Crane-Heise syndrome">Crane-Heise syndrome</a></span></li><li><span class="TLline"><a href="/medgen/333293" ref="tree=MeSH" title="MedGen record for Craniodigital syndrome and intellectual disability syndrome">Craniodigital syndrome and intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1808104" ref="tree=MeSH" title="MedGen record for Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1">Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1</a></span></li><li><span class="TLline"><a href="/medgen/370148" ref="tree=MeSH" title="MedGen record for Craniofacial dysplasia - osteopenia syndrome">Craniofacial dysplasia - osteopenia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/393947" ref="tree=MeSH" title="MedGen record for Craniofaciofrontodigital syndrome">Craniofaciofrontodigital syndrome</a></span></li><li><span class="TLline"><a href="/medgen/65095" ref="tree=MeSH" title="MedGen record for Craniofrontonasal syndrome">Craniofrontonasal syndrome</a></span></li><li><span class="TLline"><a href="/medgen/337451" ref="tree=MeSH" title="MedGen record for Creatine transporter deficiency">Creatine transporter deficiency</a></span></li><li><span class="TLline"><a href="/medgen/423639" ref="tree=MeSH" title="MedGen record for Cross syndrome">Cross 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/1647147" ref="tree=MeSH" title="MedGen record for Cryptorchidism-arachnodactyly-intellectual disability syndrome">Cryptorchidism-arachnodactyly-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/167083" ref="tree=MeSH" title="MedGen record for Curry-Jones syndrome">Curry-Jones syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82793" ref="tree=MeSH" title="MedGen record for Cutis laxa, X-linked">Cutis laxa, X-linked</a></span></li><li><span class="TLline"><a href="/medgen/82794" ref="tree=MeSH" title="MedGen record for de Barsy syndrome">de Barsy syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1720006" ref="tree=MeSH" title="MedGen record for ALDH18A1-related de Barsy syndrome">ALDH18A1-related de Barsy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/482429" ref="tree=MeSH" title="MedGen record for PYCR1-related de Barsy syndrome">PYCR1-related de Barsy syndrome</a></span></li></ul></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/419464" ref="tree=MeSH" title="MedGen record for Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome">Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/375620" ref="tree=MeSH" title="MedGen record for Deafness-intellectual disability, Martin-Probst type syndrome">Deafness-intellectual disability, Martin-Probst type syndrome</a></span></li><li><span class="TLline"><a href="/medgen/355803" ref="tree=MeSH" title="MedGen record for Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome">Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome</a></span></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/929261" ref="tree=MeSH" title="MedGen record for Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome">Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/908218" ref="tree=MeSH" title="MedGen record for DeSanto-Shinawi syndrome">DeSanto-Shinawi syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1681325" ref="tree=MeSH" title="MedGen record for DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion">DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion</a></span></li><li><span class="TLline"><a href="/medgen/1841517" ref="tree=MeSH" title="MedGen record for DeSanto-Shinawi syndrome due to WAC point mutation">DeSanto-Shinawi syndrome due to WAC point mutation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/400801" ref="tree=MeSH" title="MedGen record for Desmosterolosis">Desmosterolosis</a></span></li><li><span class="TLline"><a href="/medgen/862929" ref="tree=MeSH" title="MedGen record for Developmental and epileptic encephalopathy, 23">Developmental and epileptic encephalopathy, 23</a></span></li><li><span class="TLline"><a href="/medgen/1681654" ref="tree=MeSH" title="MedGen record for Developmental and epileptic encephalopathy, 73">Developmental and epileptic encephalopathy, 73</a></span></li><li><span class="TLline"><a href="/medgen/934768" ref="tree=MeSH" title="MedGen record for Developmental delay with short stature, dysmorphic facial features, and sparse hair">Developmental delay with short stature, dysmorphic facial features, and sparse hair</a></span><ul><li><span class="TLline"><a href="/medgen/1002069" ref="tree=MeSH" title="MedGen record for Developmental delay with short stature, dysmorphic facial features, and sparse hair 1">Developmental delay with short stature, dysmorphic facial features, and sparse hair 1</a></span></li><li><span class="TLline"><a href="/medgen/1823996" ref="tree=MeSH" title="MedGen record for Developmental delay with short stature, dysmorphic facial features, and sparse hair 2">Developmental delay with short stature, dysmorphic facial features, and sparse hair 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/325469" ref="tree=MeSH" title="MedGen record for Disorder of sex development-intellectual disability syndrome">Disorder of sex development-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1657963" ref="tree=MeSH" title="MedGen record for Distal 17p13.1 microdeletion syndrome">Distal 17p13.1 microdeletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/900126" ref="tree=MeSH" title="MedGen record for Distal monosomy 1q">Distal monosomy 1q</a></span></li><li><span class="TLline"><a href="/medgen/339855" ref="tree=MeSH" title="MedGen record for DNA ligase IV deficiency">DNA ligase IV deficiency</a></span></li><li><span class="TLline"><a href="/medgen/347406" ref="tree=MeSH" title="MedGen record for Donnai-Barrow syndrome">Donnai-Barrow syndrome</a></span></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/59797" ref="tree=MeSH" title="MedGen record for Dubowitz syndrome">Dubowitz syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120527" ref="tree=MeSH" title="MedGen record for Dyggve-Melchior-Clausen syndrome">Dyggve-Melchior-Clausen syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1799566" ref="tree=MeSH" title="MedGen record for DYRK1A-related intellectual disability syndrome">DYRK1A-related intellectual disability syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1673021" ref="tree=MeSH" title="MedGen record for DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion">DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion</a></span></li><li><span class="TLline"><a href="/medgen/1826160" ref="tree=MeSH" title="MedGen record for Intellectual disability syndrome due to a DYRK1A point mutation">Intellectual disability syndrome due to a DYRK1A point mutation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/767688" ref="tree=MeSH" title="MedGen record for Dysmorphism-conductive hearing loss-heart defect syndrome">Dysmorphism-conductive hearing loss-heart defect syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1383129" ref="tree=MeSH" title="MedGen record for Dysmorphism-short stature-deafness-disorder of sex development syndrome">Dysmorphism-short stature-deafness-disorder of sex development syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1798877" ref="tree=MeSH" title="MedGen record for Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome">Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1798652" ref="tree=MeSH" title="MedGen record for Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome">Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy 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/1841549" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome progeroid type">Ehlers-Danlos syndrome progeroid type</a></span><ul><li><span class="TLline"><a href="/medgen/393515" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, spondylocheirodysplastic type">Ehlers-Danlos syndrome, spondylocheirodysplastic type</a></span></li><li><span class="TLline"><a href="/medgen/1646889" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, spondylodysplastic type, 1">Ehlers-Danlos syndrome, spondylodysplastic type, 1</a></span></li><li><span class="TLline"><a href="/medgen/815540" ref="tree=MeSH" title="MedGen record for Ehlers-Danlos syndrome, spondylodysplastic type, 2">Ehlers-Danlos syndrome, spondylodysplastic type, 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/330468" ref="tree=MeSH" title="MedGen record for Epilepsy-microcephaly-skeletal dysplasia syndrome">Epilepsy-microcephaly-skeletal dysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/384017" ref="tree=MeSH" title="MedGen record for Epilepsy-telangiectasia syndrome">Epilepsy-telangiectasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1643947" ref="tree=MeSH" title="MedGen record for Epiphyseal dysplasia-hearing loss-dysmorphism syndrome">Epiphyseal dysplasia-hearing loss-dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/343564" ref="tree=MeSH" title="MedGen record for Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome">Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1679105" ref="tree=MeSH" title="MedGen record for Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome">Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome</a></span></li><li><span class="TLline"><a href="/medgen/341752" ref="tree=MeSH" title="MedGen record for Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome">Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419099" ref="tree=MeSH" title="MedGen record for Facial dysmorphism-shawl scrotum-joint laxity syndrome">Facial dysmorphism-shawl scrotum-joint laxity syndrome</a></span></li><li><span class="TLline"><a href="/medgen/208649" ref="tree=MeSH" title="MedGen record for Faciocardiorenal syndrome">Faciocardiorenal syndrome</a></span></li><li><span class="TLline"><a href="/medgen/977974" ref="tree=MeSH" title="MedGen record for Faciodigitogenital syndrome">Faciodigitogenital syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/61234" ref="tree=MeSH" title="MedGen record for Aarskog syndrome">Aarskog syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/322025" ref="tree=MeSH" title="MedGen record for Fallot complex-intellectual disability-growth delay syndrome">Fallot complex-intellectual disability-growth delay syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98464" ref="tree=MeSH" title="MedGen record for Familial aplasia of the vermis">Familial aplasia of the vermis</a></span><ul><li><span class="TLline"><a href="/medgen/1644883" ref="tree=MeSH" title="MedGen record for Joubert syndrome 1">Joubert syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/334114" ref="tree=MeSH" title="MedGen record for Joubert syndrome 2">Joubert syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/332931" ref="tree=MeSH" title="MedGen record for Joubert syndrome 3">Joubert syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/347545" ref="tree=MeSH" title="MedGen record for Joubert syndrome 5">Joubert syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/342805" ref="tree=MeSH" title="MedGen record for Joubert syndrome 6">Joubert syndrome 6</a></span></li><li><span class="TLline"><a href="/medgen/369401" ref="tree=MeSH" title="MedGen record for Joubert syndrome 7">Joubert syndrome 7</a></span></li><li><span class="TLline"><a href="/medgen/436772" ref="tree=MeSH" title="MedGen record for Joubert syndrome 8">Joubert syndrome 8</a></span></li><li><span class="TLline"><a href="/medgen/382940" ref="tree=MeSH" title="MedGen record for Joubert syndrome 9">Joubert syndrome 9</a></span></li><li><span class="TLline"><a href="/medgen/440688" ref="tree=MeSH" title="MedGen record for Joubert syndrome 10">Joubert syndrome 10</a></span></li><li><span class="TLline"><a href="/medgen/481661" ref="tree=MeSH" title="MedGen record for Joubert syndrome 13">Joubert syndrome 13</a></span></li><li><span class="TLline"><a href="/medgen/482396" ref="tree=MeSH" title="MedGen record for Joubert syndrome 14">Joubert syndrome 14</a></span></li><li><span class="TLline"><a href="/medgen/766178" ref="tree=MeSH" title="MedGen record for Joubert syndrome 17">Joubert syndrome 17</a></span></li><li><span class="TLline"><a href="/medgen/335526" ref="tree=MeSH" title="MedGen record for Joubert syndrome with renal defect">Joubert syndrome with renal defect</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/355365" ref="tree=MeSH" title="MedGen record for Familial scaphocephaly syndrome, McGillivray type">Familial scaphocephaly syndrome, McGillivray type</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/1650412" ref="tree=MeSH" title="MedGen record for FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome">FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/163209" ref="tree=MeSH" title="MedGen record for Feingold syndrome">Feingold syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1637716" ref="tree=MeSH" title="MedGen record for Feingold syndrome type 1">Feingold syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/482119" ref="tree=MeSH" title="MedGen record for Feingold syndrome type 2">Feingold syndrome type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1768809" ref="tree=MeSH" title="MedGen record for FG syndrome 1">FG syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/163197" ref="tree=MeSH" title="MedGen record for Filippi syndrome">Filippi syndrome</a></span></li><li><span class="TLline"><a href="/medgen/163198" ref="tree=MeSH" title="MedGen record for Fine-Lubinsky syndrome">Fine-Lubinsky syndrome</a></span></li><li><span class="TLline"><a href="/medgen/152667" ref="tree=MeSH" title="MedGen record for Floating-Harbor syndrome">Floating-Harbor syndrome</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/1640999" ref="tree=MeSH" title="MedGen record for Focal epilepsy-intellectual disability-cerebro-cerebellar malformation">Focal epilepsy-intellectual disability-cerebro-cerebellar malformation</a></span></li><li><span class="TLline"><a href="/medgen/208650" ref="tree=MeSH" title="MedGen record for Fountain syndrome">Fountain syndrome</a></span></li><li><span class="TLline"><a href="/medgen/8912" ref="tree=MeSH" title="MedGen record for Fragile X syndrome">Fragile X syndrome</a></span></li><li><span class="TLline"><a href="/medgen/930803" ref="tree=MeSH" title="MedGen record for Fried syndrome">Fried syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82703" ref="tree=MeSH" title="MedGen record for Frontometaphyseal dysplasia">Frontometaphyseal dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/923943" ref="tree=MeSH" title="MedGen record for Frontometaphyseal dysplasia 1">Frontometaphyseal dysplasia 1</a></span></li><li><span class="TLline"><a href="/medgen/934664" ref="tree=MeSH" title="MedGen record for Frontometaphyseal dysplasia 2">Frontometaphyseal dysplasia 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/462053" ref="tree=MeSH" title="MedGen record for Frontonasal dysplasia with alopecia and genital anomaly">Frontonasal dysplasia with alopecia and genital anomaly</a></span></li><li><span class="TLline"><a href="/medgen/65088" ref="tree=MeSH" title="MedGen record for Fryns syndrome">Fryns syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1375401" ref="tree=MeSH" title="MedGen record for Gabriele de Vries syndrome">Gabriele de Vries syndrome</a></span></li><li><span class="TLline"><a href="/medgen/167086" ref="tree=MeSH" title="MedGen record for Galloway-Mowat syndrome">Galloway-Mowat syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1634188" ref="tree=MeSH" title="MedGen record for Galloway-Mowat syndrome 1">Galloway-Mowat syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1627611" ref="tree=MeSH" title="MedGen record for Galloway-Mowat syndrome 3">Galloway-Mowat syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/1613511" ref="tree=MeSH" title="MedGen record for Galloway-Mowat syndrome 4">Galloway-Mowat syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/1617227" ref="tree=MeSH" title="MedGen record for Galloway-Mowat syndrome 5">Galloway-Mowat syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/1625619" ref="tree=MeSH" title="MedGen record for Galloway-Mowat syndrome 2, X-linked">Galloway-Mowat syndrome 2, X-linked</a></span></li></ul></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/929239" ref="tree=MeSH" title="MedGen record for Global developmental delay-osteopenia-ectodermal defect syndrome">Global developmental delay-osteopenia-ectodermal defect syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1798945" ref="tree=MeSH" title="MedGen record for Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome">Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1615160" ref="tree=MeSH" title="MedGen record for Glycosylphosphatidylinositol biosynthesis defect 15">Glycosylphosphatidylinositol biosynthesis defect 15</a></span></li><li><span class="TLline"><a href="/medgen/374804" ref="tree=MeSH" title="MedGen record for GMS syndrome">GMS syndrome</a></span></li><li><span class="TLline"><a href="/medgen/332131" ref="tree=MeSH" title="MedGen record for Goldberg-Shprintzen syndrome">Goldberg-Shprintzen syndrome</a></span></li><li><span class="TLline"><a href="/medgen/163201" ref="tree=MeSH" title="MedGen record for Gomez Lopez Hernandez syndrome">Gomez Lopez Hernandez 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/120531" ref="tree=MeSH" title="MedGen record for Greig cephalopolysyndactyly syndrome">Greig cephalopolysyndactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419108" ref="tree=MeSH" title="MedGen record for Grubben-de Cock-Borghgraef syndrome">Grubben-de Cock-Borghgraef syndrome</a></span></li><li><span class="TLline"><a href="/medgen/341089" ref="tree=MeSH" title="MedGen record for Hall-Riggs syndrome">Hall-Riggs 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/162895" ref="tree=MeSH" title="MedGen record for Harrod syndrome">Harrod syndrome</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/137946" ref="tree=MeSH" title="MedGen record for Hennekam lymphangiectasia-lymphedema syndrome">Hennekam lymphangiectasia-lymphedema syndrome</a></span></li><li><span class="TLline"><a href="/medgen/462843" ref="tree=MeSH" title="MedGen record for Hennekam-Beemer syndrome">Hennekam-Beemer syndrome</a></span></li><li><span class="TLline"><a href="/medgen/347120" ref="tree=MeSH" title="MedGen record for Hepatic fibrosis-renal cysts-intellectual disability syndrome">Hepatic fibrosis-renal cysts-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1002391" ref="tree=MeSH" title="MedGen record for Hereditary persistence of fetal hemoglobin-intellectual disability syndrome">Hereditary persistence of fetal hemoglobin-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419481" ref="tree=MeSH" title="MedGen record for Hernández-Aguirre Negrete syndrome">Hernández-Aguirre Negrete syndrome</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/1830493" ref="tree=MeSH" title="MedGen record for Hogue-Janssens syndrome 1">Hogue-Janssens syndrome 1</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/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/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/401047" ref="tree=MeSH" title="MedGen record for Holoprosencephaly-radial heart renal anomalies syndrome">Holoprosencephaly-radial heart renal anomalies syndrome</a></span></li><li><span class="TLline"><a href="/medgen/899880" ref="tree=MeSH" title="MedGen record for Houge-Janssens syndrome 2">Houge-Janssens syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/39698" ref="tree=MeSH" title="MedGen record for Hurler syndrome">Hurler syndrome</a></span></li><li><span class="TLline"><a href="/medgen/764174" ref="tree=MeSH" title="MedGen record for Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome">Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/462408" ref="tree=MeSH" title="MedGen record for Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase">Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase</a></span></li><li><span class="TLline"><a href="/medgen/383800" ref="tree=MeSH" title="MedGen record for Hyperphosphatasia-intellectual disability syndrome">Hyperphosphatasia-intellectual disability syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1647044" ref="tree=MeSH" title="MedGen record for Hyperphosphatasia with intellectual disability syndrome 1">Hyperphosphatasia with intellectual disability syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/766551" ref="tree=MeSH" title="MedGen record for Hyperphosphatasia with intellectual disability syndrome 2">Hyperphosphatasia with intellectual disability syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/481783" ref="tree=MeSH" title="MedGen record for Hyperphosphatasia with intellectual disability syndrome 3">Hyperphosphatasia with intellectual disability syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/816684" ref="tree=MeSH" title="MedGen record for Hyperphosphatasia with intellectual disability syndrome 4">Hyperphosphatasia with intellectual disability syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/863395" ref="tree=MeSH" title="MedGen record for Hyperphosphatasia with intellectual disability syndrome 5">Hyperphosphatasia with intellectual disability syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/906509" ref="tree=MeSH" title="MedGen record for Hyperphosphatasia with intellectual disability syndrome 6">Hyperphosphatasia with intellectual disability syndrome 6</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/113104" ref="tree=MeSH" title="MedGen record for Hypertelorism, microtia, facial clefting syndrome">Hypertelorism, microtia, facial clefting syndrome</a></span></li><li><span class="TLline"><a href="/medgen/208647" ref="tree=MeSH" title="MedGen record for Hypertrichotic osteochondrodysplasia Cantu type">Hypertrichotic osteochondrodysplasia Cantu type</a></span></li><li><span class="TLline"><a href="/medgen/444117" ref="tree=MeSH" title="MedGen record for Hypogonadism-mitral valve prolapse-intellectual disability syndrome">Hypogonadism-mitral valve prolapse-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/343427" ref="tree=MeSH" title="MedGen record for Hypomandibular faciocranial dysostosis">Hypomandibular faciocranial dysostosis</a></span></li><li><span class="TLline"><a href="/medgen/340984" ref="tree=MeSH" title="MedGen record for Hypoparathyroidism-retardation-dysmorphism syndrome">Hypoparathyroidism-retardation-dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/162896" ref="tree=MeSH" title="MedGen record for Hypospadias-intellectual disability, Goldblatt type syndrome">Hypospadias-intellectual disability, Goldblatt type syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1642314" ref="tree=MeSH" title="MedGen record for Hypotonia, infantile, with psychomotor retardation and characteristic facies">Hypotonia, infantile, with psychomotor retardation and characteristic facies</a></span></li><li><span class="TLline"><a href="/medgen/1798903" ref="tree=MeSH" title="MedGen record for Hypotonia, infantile, with psychomotor retardation and characteristic facies 3">Hypotonia, infantile, with psychomotor retardation and characteristic facies 3</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/340966" ref="tree=MeSH" title="MedGen record for Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome">Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1814445" ref="tree=MeSH" title="MedGen record for Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome">Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1675627" ref="tree=MeSH" title="MedGen record for Intellectual developmental disorder with cardiac defects and dysmorphic facies">Intellectual developmental disorder with cardiac defects and dysmorphic facies</a></span></li><li><span class="TLline"><a href="/medgen/1375601" ref="tree=MeSH" title="MedGen record for Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies">Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies</a></span></li><li><span class="TLline"><a href="/medgen/462274" ref="tree=MeSH" title="MedGen record for Intellectual disability, anterior maxillary protrusion, and strabismus">Intellectual disability, anterior maxillary protrusion, and strabismus</a></span></li><li><span class="TLline"><a href="/medgen/1622196" ref="tree=MeSH" title="MedGen record for Intellectual disability, autosomal dominant 47">Intellectual disability, autosomal dominant 47</a></span></li><li><span class="TLline"><a href="/medgen/1619532" ref="tree=MeSH" title="MedGen record for Intellectual disability, autosomal dominant 48">Intellectual disability, autosomal dominant 48</a></span></li><li><span class="TLline"><a href="/medgen/167102" ref="tree=MeSH" title="MedGen record for Intellectual disability, Buenos-Aires type">Intellectual disability, Buenos-Aires type</a></span></li><li><span class="TLline"><a href="/medgen/336345" ref="tree=MeSH" title="MedGen record for Intellectual disability, Wolff type">Intellectual disability, Wolff type</a></span></li><li><span class="TLline"><a href="/medgen/401129" ref="tree=MeSH" title="MedGen record for Intellectual disability-balding-patella luxation-acromicria syndrome">Intellectual disability-balding-patella luxation-acromicria syndrome</a></span></li><li><span class="TLline"><a href="/medgen/325196" ref="tree=MeSH" title="MedGen record for Intellectual disability-brachydactyly-Pierre Robin syndrome">Intellectual disability-brachydactyly-Pierre Robin syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1799995" ref="tree=MeSH" title="MedGen record for Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome">Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome</a></span></li><li><span class="TLline"><a href="/medgen/343317" ref="tree=MeSH" title="MedGen record for Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome">Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1809999" ref="tree=MeSH" title="MedGen record for Intellectual disability-expressive aphasia-facial dysmorphism syndrome">Intellectual disability-expressive aphasia-facial dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/816736" ref="tree=MeSH" title="MedGen record for Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency">Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency</a></span></li><li><span class="TLline"><a href="/medgen/1655582" ref="tree=MeSH" title="MedGen record for Intellectual disability-facial dysmorphism-hand anomalies syndrome">Intellectual disability-facial dysmorphism-hand anomalies syndrome</a></span></li><li><span class="TLline"><a href="/medgen/816016" ref="tree=MeSH" title="MedGen record for Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome">Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/928199" ref="tree=MeSH" title="MedGen record for Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome">Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1655593" ref="tree=MeSH" title="MedGen record for Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome">Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/897984" ref="tree=MeSH" title="MedGen record for Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome">Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1805563" ref="tree=MeSH" title="MedGen record for Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome">Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1644787" ref="tree=MeSH" title="MedGen record for Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome">Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/376145" ref="tree=MeSH" title="MedGen record for Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome">Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome</a></span></li><li><span class="TLline"><a href="/medgen/444082" ref="tree=MeSH" title="MedGen record for Intellectual disability-polydactyly-uncombable hair syndrome">Intellectual disability-polydactyly-uncombable hair syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1650833" ref="tree=MeSH" title="MedGen record for Intellectual disability-seizures-macrocephaly-obesity syndrome">Intellectual disability-seizures-macrocephaly-obesity syndrome</a></span></li><li><span class="TLline"><a href="/medgen/862201" ref="tree=MeSH" title="MedGen record for Intellectual disability-severe speech delay-mild dysmorphism syndrome">Intellectual disability-severe speech delay-mild dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1665709" ref="tree=MeSH" title="MedGen record for Intellectual disability-short stature-hypertelorism syndrome">Intellectual disability-short stature-hypertelorism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/340888" ref="tree=MeSH" title="MedGen record for Intellectual disability-spasticity-ectrodactyly syndrome">Intellectual disability-spasticity-ectrodactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1665943" ref="tree=MeSH" title="MedGen record for Intellectual disability-strabismus syndrome">Intellectual disability-strabismus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/96600" ref="tree=MeSH" title="MedGen record for Isotretinoin-like syndrome">Isotretinoin-like syndrome</a></span></li><li><span class="TLline"><a href="/medgen/810673" ref="tree=MeSH" title="MedGen record for Jawad syndrome">Jawad 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/909607" ref="tree=MeSH" title="MedGen record for Joubert syndrome with ocular defect">Joubert syndrome with ocular defect</a></span></li><li><span class="TLline"><a href="/medgen/340930" ref="tree=MeSH" title="MedGen record for Joubert syndrome with oculorenal defect">Joubert syndrome with oculorenal defect</a></span></li><li><span class="TLline"><a href="/medgen/162897" ref="tree=MeSH" title="MedGen record for Kabuki syndrome">Kabuki syndrome</a></span></li><li><span class="TLline"><a href="/medgen/928566" ref="tree=MeSH" title="MedGen record for Kallmann syndrome-heart disease syndrome">Kallmann syndrome-heart disease syndrome</a></span></li><li><span class="TLline"><a href="/medgen/208654" ref="tree=MeSH" title="MedGen record for Kapur-Toriello syndrome">Kapur-Toriello syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419068" ref="tree=MeSH" title="MedGen record for Karandikar Maria Kamble syndrome">Karandikar Maria Kamble syndrome</a></span></li><li><span class="TLline"><a href="/medgen/66317" ref="tree=MeSH" title="MedGen record for KBG syndrome">KBG 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/481430" ref="tree=MeSH" title="MedGen record for Keppen-Lubinsky syndrome">Keppen-Lubinsky syndrome</a></span></li><li><span class="TLline"><a href="/medgen/374340" ref="tree=MeSH" title="MedGen record for Keratosis follicularis-dwarfism-cerebral atrophy syndrome">Keratosis follicularis-dwarfism-cerebral atrophy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/383722" ref="tree=MeSH" title="MedGen record for Keutel syndrome">Keutel syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1684615" ref="tree=MeSH" title="MedGen record for Kleefstra syndrome">Kleefstra syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1610338" ref="tree=MeSH" title="MedGen record for Kleefstra syndrome due to 9q34 microdeletion">Kleefstra syndrome due to 9q34 microdeletion</a></span></li><li><span class="TLline"><a href="/medgen/1826146" ref="tree=MeSH" title="MedGen record for Kleefstra syndrome due to a point mutation">Kleefstra syndrome due to a point mutation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1842955" ref="tree=MeSH" title="MedGen record for KLHL7-related Bohring-Opitz-like syndrome">KLHL7-related Bohring-Opitz-like syndrome</a></span></li><li><span class="TLline"><a href="/medgen/355853" ref="tree=MeSH" title="MedGen record for Koolen-de Vries syndrome">Koolen-de Vries syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/992590" ref="tree=MeSH" title="MedGen record for Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome">Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1843302" ref="tree=MeSH" title="MedGen record for Koolen-de Vries syndrome due to a point mutation">Koolen-de Vries syndrome due to a point mutation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/903542" ref="tree=MeSH" title="MedGen record for Lamb-Shaffer syndrome">Lamb-Shaffer syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1652598" ref="tree=MeSH" title="MedGen record for 12p12.1 microdeletion syndrome">12p12.1 microdeletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1660895" ref="tree=MeSH" title="MedGen record for Developmental and speech delay due to SOX5 deficiency">Developmental and speech delay due to SOX5 deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/343381" ref="tree=MeSH" title="MedGen record for Lambert syndrome">Lambert syndrome</a></span></li><li><span class="TLline"><a href="/medgen/6009" ref="tree=MeSH" title="MedGen record for Langer-Giedion syndrome">Langer-Giedion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/375885" ref="tree=MeSH" title="MedGen record for Lathosterolosis">Lathosterolosis</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/986737" ref="tree=MeSH" title="MedGen record for Lenz microphthalmia syndrome">Lenz microphthalmia syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/162898" ref="tree=MeSH" title="MedGen record for Microphthalmia, syndromic 1">Microphthalmia, syndromic 1</a></span></li><li><span class="TLline"><a href="/medgen/337547" ref="tree=MeSH" title="MedGen record for Oculofaciocardiodental syndrome">Oculofaciocardiodental syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/98483" ref="tree=MeSH" title="MedGen record for Lenz-Majewski hyperostosis syndrome">Lenz-Majewski hyperostosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/376757" ref="tree=MeSH" title="MedGen record for Lethal omphalocele-cleft palate syndrome">Lethal omphalocele-cleft palate syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98356" ref="tree=MeSH" title="MedGen record for Lethal tight skin contracture syndrome">Lethal tight skin contracture syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1812447" ref="tree=MeSH" title="MedGen record for Restrictive dermopathy 1">Restrictive dermopathy 1</a></span></li><li><span class="TLline"><a href="/medgen/1801155" ref="tree=MeSH" title="MedGen record for Restrictive dermopathy 2">Restrictive dermopathy 2</a></span></li></ul></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/1709796" ref="tree=MeSH" title="MedGen record for Liberfarb syndrome">Liberfarb syndrome</a></span></li><li><span class="TLline"><a href="/medgen/946288" ref="tree=MeSH" title="MedGen record for Linear skin defects with multiple congenital anomalies">Linear skin defects with multiple congenital anomalies</a></span><ul><li><span class="TLline"><a href="/medgen/163210" ref="tree=MeSH" title="MedGen record for Linear skin defects with multiple congenital anomalies 1">Linear skin defects with multiple congenital anomalies 1</a></span></li><li><span class="TLline"><a href="/medgen/763835" ref="tree=MeSH" title="MedGen record for Linear skin defects with multiple congenital anomalies 2">Linear skin defects with multiple congenital anomalies 2</a></span></li><li><span class="TLline"><a href="/medgen/906997" ref="tree=MeSH" title="MedGen record for Linear skin defects with multiple congenital anomalies 3">Linear skin defects with multiple congenital anomalies 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/334166" ref="tree=MeSH" title="MedGen record for Lipodystrophy-intellectual disability-deafness syndrome">Lipodystrophy-intellectual disability-deafness syndrome</a></span></li><li><span class="TLline"><a href="/medgen/167095" ref="tree=MeSH" title="MedGen record for Lowry-MacLean syndrome">Lowry-MacLean syndrome</a></span></li><li><span class="TLline"><a href="/medgen/898669" ref="tree=MeSH" title="MedGen record for Luscan-Lumish syndrome">Luscan-Lumish syndrome</a></span></li><li><span class="TLline"><a href="/medgen/381416" ref="tree=MeSH" title="MedGen record for Macrocephaly-autism syndrome">Macrocephaly-autism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/816555" ref="tree=MeSH" title="MedGen record for Macrocephaly-developmental delay syndrome">Macrocephaly-developmental delay syndrome</a></span></li><li><span class="TLline"><a href="/medgen/899689" ref="tree=MeSH" title="MedGen record for Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome">Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419845" ref="tree=MeSH" title="MedGen record for Macrocephaly-short stature-paraplegia syndrome">Macrocephaly-short stature-paraplegia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/373933" ref="tree=MeSH" title="MedGen record for Macrocephaly-spastic paraplegia-dysmorphism syndrome">Macrocephaly-spastic paraplegia-dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/906646" ref="tree=MeSH" title="MedGen record for Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome">Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/766574" ref="tree=MeSH" title="MedGen record for Malan overgrowth syndrome">Malan overgrowth syndrome</a></span></li><li><span class="TLline"><a href="/medgen/334557" ref="tree=MeSH" title="MedGen record for Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome">Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome</a></span></li><li><span class="TLline"><a href="/medgen/355264" ref="tree=MeSH" title="MedGen record for Mandibulofacial dysostosis-microcephaly syndrome">Mandibulofacial dysostosis-microcephaly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/163206" ref="tree=MeSH" title="MedGen record for Marden-Walker syndrome">Marden-Walker syndrome</a></span></li><li><span class="TLline"><a href="/medgen/343326" ref="tree=MeSH" title="MedGen record for Marfanoid habitus-autosomal recessive intellectual disability syndrome">Marfanoid habitus-autosomal recessive intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75551" ref="tree=MeSH" title="MedGen record for Marshall-Smith syndrome">Marshall-Smith syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1778114" ref="tree=MeSH" title="MedGen record for Martsolf syndrome 1">Martsolf syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/88435" ref="tree=MeSH" title="MedGen record for Maternal phenylketonuria">Maternal phenylketonuria</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/162902" ref="tree=MeSH" title="MedGen record for McDonough syndrome">McDonough syndrome</a></span></li><li><span class="TLline"><a href="/medgen/355421" ref="tree=MeSH" title="MedGen record for Megalencephaly-capillary malformation-polymicrogyria syndrome">Megalencephaly-capillary malformation-polymicrogyria syndrome</a></span></li><li><span class="TLline"><a href="/medgen/928562" ref="tree=MeSH" title="MedGen record for Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome">Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1814470" ref="tree=MeSH" title="MedGen record for Megalencephaly-severe kyphoscoliosis-overgrowth syndrome">Megalencephaly-severe kyphoscoliosis-overgrowth syndrome</a></span></li><li><span class="TLline"><a href="/medgen/162904" ref="tree=MeSH" title="MedGen record for Megalocornea-intellectual disability syndrome">Megalocornea-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/375855" ref="tree=MeSH" title="MedGen record for MEHMO syndrome">MEHMO syndrome</a></span></li><li><span class="TLline"><a href="/medgen/905986" ref="tree=MeSH" title="MedGen record for MEND syndrome">MEND syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1814480" ref="tree=MeSH" title="MedGen record for Menke-Hennekam syndrome">Menke-Hennekam syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1675629" ref="tree=MeSH" title="MedGen record for Menke-Hennekam syndrome 1">Menke-Hennekam syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1676668" ref="tree=MeSH" title="MedGen record for Menke-Hennekam syndrome 2">Menke-Hennekam syndrome 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/344453" ref="tree=MeSH" title="MedGen record for Metaphyseal acroscyphodysplasia">Metaphyseal acroscyphodysplasia</a></span></li><li><span class="TLline"><a href="/medgen/381579" ref="tree=MeSH" title="MedGen record for Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome">Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome</a></span></li><li><span class="TLline"><a href="/medgen/344437" ref="tree=MeSH" title="MedGen record for Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome">Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome</a></span></li><li><span class="TLline"><a href="/medgen/963237" ref="tree=MeSH" title="MedGen record for Metopic ridging-ptosis-facial dysmorphism syndrome">Metopic ridging-ptosis-facial dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/162914" ref="tree=MeSH" title="MedGen record for Microbrachycephaly-ptosis-cleft lip syndrome">Microbrachycephaly-ptosis-cleft lip syndrome</a></span></li><li><span class="TLline"><a href="/medgen/381554" ref="tree=MeSH" title="MedGen record for Microcephalus cardiomyopathy syndrome">Microcephalus cardiomyopathy 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/419731" ref="tree=MeSH" title="MedGen record for Microcephaly-brachydactyly-kyphoscoliosis syndrome">Microcephaly-brachydactyly-kyphoscoliosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1668792" ref="tree=MeSH" title="MedGen record for Microcephaly-brain defect-spasticity-hypernatremia syndrome">Microcephaly-brain defect-spasticity-hypernatremia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/482322" ref="tree=MeSH" title="MedGen record for Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome">Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome</a></span></li><li><span class="TLline"><a href="/medgen/208663" ref="tree=MeSH" title="MedGen record for Microcephaly-cervical spine fusion anomalies syndrome">Microcephaly-cervical spine fusion anomalies syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419293" ref="tree=MeSH" title="MedGen record for Microcephaly-cleft palate syndrome">Microcephaly-cleft palate syndrome</a></span></li><li><span class="TLline"><a href="/medgen/163208" ref="tree=MeSH" title="MedGen record for Microcephaly-deafness-intellectual disability syndrome">Microcephaly-deafness-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/343327" ref="tree=MeSH" title="MedGen record for Microcephaly-glomerulonephritis-marfanoid habitus syndrome">Microcephaly-glomerulonephritis-marfanoid habitus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419433" ref="tree=MeSH" title="MedGen record for Microcephaly-microcornea syndrome, Seemanova type">Microcephaly-microcornea syndrome, Seemanova type</a></span></li><li><span class="TLline"><a href="/medgen/1653942" ref="tree=MeSH" title="MedGen record for Microcephaly-polymicrogyria-corpus callosum agenesis syndrome">Microcephaly-polymicrogyria-corpus callosum agenesis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419830" ref="tree=MeSH" title="MedGen record for Microcephaly-seizures-intellectual disability-heart disease syndrome">Microcephaly-seizures-intellectual disability-heart disease syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1659920" ref="tree=MeSH" title="MedGen record for Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome">Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/816410" ref="tree=MeSH" title="MedGen record for Microcephaly-thin corpus callosum-intellectual disability syndrome">Microcephaly-thin corpus callosum-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/322532" ref="tree=MeSH" title="MedGen record for Microgastria-limb reduction defect syndrome">Microgastria-limb reduction defect syndrome</a></span></li><li><span class="TLline"><a href="/medgen/934707" ref="tree=MeSH" title="MedGen record for Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome">Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1377242" ref="tree=MeSH" title="MedGen record for Microlissencephaly-micromelia syndrome">Microlissencephaly-micromelia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/355268" ref="tree=MeSH" title="MedGen record for Microphthalmia with brain and digit anomalies">Microphthalmia with brain and digit anomalies</a></span></li><li><span class="TLline"><a href="/medgen/154638" ref="tree=MeSH" title="MedGen record for Microphthalmia with limb anomalies">Microphthalmia with limb anomalies</a></span></li><li><span class="TLline"><a href="/medgen/370809" ref="tree=MeSH" title="MedGen record for Microphthalmia-brain atrophy syndrome">Microphthalmia-brain atrophy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1656562" ref="tree=MeSH" title="MedGen record for Microtriplication 11q24.1">Microtriplication 11q24.1</a></span></li><li><span class="TLline"><a href="/medgen/82695" ref="tree=MeSH" title="MedGen record for Mietens syndrome">Mietens syndrome</a></span></li><li><span class="TLline"><a href="/medgen/330469" ref="tree=MeSH" title="MedGen record for MMEP syndrome">MMEP syndrome</a></span></li><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/1641418" ref="tree=MeSH" title="MedGen record for Mosaic variegated aneuploidy syndrome">Mosaic variegated aneuploidy syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/338026" ref="tree=MeSH" title="MedGen record for Mosaic variegated aneuploidy syndrome 1">Mosaic variegated aneuploidy syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/481473" ref="tree=MeSH" title="MedGen record for Mosaic variegated aneuploidy syndrome 2">Mosaic variegated aneuploidy syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/1616382" ref="tree=MeSH" title="MedGen record for Mosaic variegated aneuploidy syndrome 3">Mosaic variegated aneuploidy syndrome 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/863995" ref="tree=MeSH" title="MedGen record for Motor developmental delay due to 14q32.2 paternally expressed gene defect">Motor developmental delay due to 14q32.2 paternally expressed gene defect</a></span><ul><li><span class="TLline"><a href="/medgen/1841563" ref="tree=MeSH" title="MedGen record for Maternal uniparental disomy of chromosome 14">Maternal uniparental disomy of chromosome 14</a></span></li><li><span class="TLline"><a href="/medgen/1842839" ref="tree=MeSH" title="MedGen record for Paternal 14q32.2 hypomethylation syndrome">Paternal 14q32.2 hypomethylation syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1842589" ref="tree=MeSH" title="MedGen record for Paternal 14q32.2 microdeletion syndrome">Paternal 14q32.2 microdeletion syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/341067" ref="tree=MeSH" title="MedGen record for Mowat-Wilson syndrome">Mowat-Wilson syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1842263" ref="tree=MeSH" title="MedGen record for Mowat-Wilson syndrome due to a ZEB2 point mutation">Mowat-Wilson syndrome due to a ZEB2 point mutation</a></span></li><li><span class="TLline"><a href="/medgen/1723926" ref="tree=MeSH" title="MedGen record for Mowat-Wilson syndrome due to monosomy 2q22">Mowat-Wilson syndrome due to monosomy 2q22</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/463207" ref="tree=MeSH" title="MedGen record for Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome">Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/435914" ref="tree=MeSH" title="MedGen record for Mucolipidosis type II">Mucolipidosis type II</a></span></li><li><span class="TLline"><a href="/medgen/934594" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis-plus syndrome">Mucopolysaccharidosis-plus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/355217" ref="tree=MeSH" title="MedGen record for Muenke syndrome">Muenke syndrome</a></span></li><li><span class="TLline"><a href="/medgen/481405" ref="tree=MeSH" title="MedGen record for Multiple congenital anomalies-hypotonia-seizures syndrome 1">Multiple congenital anomalies-hypotonia-seizures syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/477139" ref="tree=MeSH" title="MedGen record for Multiple congenital anomalies-hypotonia-seizures syndrome 2">Multiple congenital anomalies-hypotonia-seizures syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/815686" ref="tree=MeSH" title="MedGen record for Multiple congenital anomalies-hypotonia-seizures syndrome 3">Multiple congenital anomalies-hypotonia-seizures syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/1665387" ref="tree=MeSH" title="MedGen record for Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome">Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome</a></span></li><li><span class="TLline"><a href="/medgen/167103" ref="tree=MeSH" title="MedGen record for Myhre syndrome">Myhre syndrome</a></span></li><li><span class="TLline"><a href="/medgen/424834" ref="tree=MeSH" title="MedGen record for N syndrome">N syndrome</a></span></li><li><span class="TLline"><a href="/medgen/208665" ref="tree=MeSH" title="MedGen record for Nance-Horan syndrome">Nance-Horan syndrome</a></span></li><li><span class="TLline"><a href="/medgen/140806" ref="tree=MeSH" title="MedGen record for Neonatal pseudo-hydrocephalic progeroid syndrome">Neonatal pseudo-hydrocephalic progeroid syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1775930" ref="tree=MeSH" title="MedGen record for Neurodevelopmental disorder with alopecia and brain abnormalities">Neurodevelopmental disorder with alopecia and brain abnormalities</a></span></li><li><span class="TLline"><a href="/medgen/1380860" ref="tree=MeSH" title="MedGen record for Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies">Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies</a></span></li><li><span class="TLline"><a href="/medgen/934739" ref="tree=MeSH" title="MedGen record for Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart">Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart</a></span></li><li><span class="TLline"><a href="/medgen/1380260" ref="tree=MeSH" title="MedGen record for Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies">Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies</a></span></li><li><span class="TLline"><a href="/medgen/988286" ref="tree=MeSH" title="MedGen record for Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome">Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/900671" ref="tree=MeSH" title="MedGen record for Au-Kline syndrome">Au-Kline syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1842292" ref="tree=MeSH" title="MedGen record for Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion">Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/163212" ref="tree=MeSH" title="MedGen record for Neurofaciodigitorenal syndrome">Neurofaciodigitorenal syndrome</a></span></li><li><span class="TLline"><a href="/medgen/864165" ref="tree=MeSH" title="MedGen record for Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1">Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1</a></span></li><li><span class="TLline"><a href="/medgen/355328" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 8 northern epilepsy variant">Neuronal ceroid lipofuscinosis 8 northern epilepsy variant</a></span></li><li><span class="TLline"><a href="/medgen/220983" ref="tree=MeSH" title="MedGen record for Nicolaides-Baraitser syndrome">Nicolaides-Baraitser syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1842941" ref="tree=MeSH" title="MedGen record for Nodular neuronal heterotopia">Nodular neuronal heterotopia</a></span><ul><li><span class="TLline"><a href="/medgen/358387" ref="tree=MeSH" title="MedGen record for Periventricular nodular heterotopia">Periventricular nodular heterotopia</a></span><ul><li><span class="TLline"><a href="/medgen/442882" ref="tree=MeSH" title="MedGen record for Chromosome 5Q14.3 deletion syndrome, distal">Chromosome 5Q14.3 deletion syndrome, distal</a></span></li><li><span class="TLline"><a href="/medgen/374963" ref="tree=MeSH" title="MedGen record for Heterotopia, periventricular, associated with chromosome 5P anomalies">Heterotopia, periventricular, associated with chromosome 5P anomalies</a></span></li><li><span class="TLline"><a href="/medgen/376309" ref="tree=MeSH" title="MedGen record for Heterotopia, periventricular, X-linked dominant">Heterotopia, periventricular, X-linked dominant</a></span></li><li><span class="TLline"><a href="/medgen/334110" ref="tree=MeSH" title="MedGen record for Periventricular heterotopia with microcephaly, autosomal recessive">Periventricular heterotopia with microcephaly, autosomal recessive</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1843064" ref="tree=MeSH" title="MedGen record for Sub-cortical nodular heterotopia">Sub-cortical nodular heterotopia</a></span></li><li><span class="TLline"><a href="/medgen/781340" ref="tree=MeSH" title="MedGen record for Subependymal nodular heterotopia">Subependymal nodular heterotopia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/18073" ref="tree=MeSH" title="MedGen record for Noonan syndrome">Noonan syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1638960" ref="tree=MeSH" title="MedGen record for Noonan syndrome 1">Noonan syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/344290" ref="tree=MeSH" title="MedGen record for Noonan syndrome 2">Noonan syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/349931" ref="tree=MeSH" title="MedGen record for Noonan syndrome 3">Noonan syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/339908" ref="tree=MeSH" title="MedGen record for Noonan syndrome 4">Noonan syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/370589" ref="tree=MeSH" title="MedGen record for Noonan syndrome 5">Noonan syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/413028" ref="tree=MeSH" title="MedGen record for Noonan syndrome 6">Noonan syndrome 6</a></span></li><li><span class="TLline"><a href="/medgen/462320" ref="tree=MeSH" title="MedGen record for Noonan syndrome 7">Noonan syndrome 7</a></span></li><li><span class="TLline"><a href="/medgen/815563" ref="tree=MeSH" title="MedGen record for Noonan syndrome 8">Noonan syndrome 8</a></span></li><li><span class="TLline"><a href="/medgen/896352" ref="tree=MeSH" title="MedGen record for Noonan syndrome 9">Noonan syndrome 9</a></span></li><li><span class="TLline"><a href="/medgen/902892" ref="tree=MeSH" title="MedGen record for Noonan syndrome 10">Noonan syndrome 10</a></span></li><li><span class="TLline"><a href="/medgen/1681177" ref="tree=MeSH" title="MedGen record for Noonan syndrome 11">Noonan syndrome 11</a></span></li><li><span class="TLline"><a href="/medgen/1684730" ref="tree=MeSH" title="MedGen record for Noonan syndrome 12">Noonan syndrome 12</a></span></li><li><span class="TLline"><a href="/medgen/1761918" ref="tree=MeSH" title="MedGen record for Noonan syndrome 13">Noonan syndrome 13</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/334697" ref="tree=MeSH" title="MedGen record for Noonan syndrome-like disorder with loose anagen hair">Noonan syndrome-like disorder with loose anagen hair</a></span><ul><li><span class="TLline"><a href="/medgen/1379805" ref="tree=MeSH" title="MedGen record for Noonan syndrome-like disorder with loose anagen hair 1">Noonan syndrome-like disorder with loose anagen hair 1</a></span></li><li><span class="TLline"><a href="/medgen/1376945" ref="tree=MeSH" title="MedGen record for Noonan syndrome-like disorder with loose anagen hair 2">Noonan syndrome-like disorder with loose anagen hair 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/338025" ref="tree=MeSH" title="MedGen record for Oculo-palato-cerebral syndrome">Oculo-palato-cerebral syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419131" ref="tree=MeSH" title="MedGen record for Oculocerebral hypopigmentation syndrome of Preus">Oculocerebral hypopigmentation syndrome of Preus</a></span></li><li><span class="TLline"><a href="/medgen/343403" ref="tree=MeSH" title="MedGen record for Oculocerebrofacial syndrome, Kaufman type">Oculocerebrofacial syndrome, Kaufman type</a></span></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/1779113" ref="tree=MeSH" title="MedGen record for Oculogastrointestinal-neurodevelopmental syndrome">Oculogastrointestinal-neurodevelopmental syndrome</a></span></li><li><span class="TLline"><a href="/medgen/340516" ref="tree=MeSH" title="MedGen record for Oculorenocerebellar syndrome">Oculorenocerebellar syndrome</a></span></li><li><span class="TLline"><a href="/medgen/477078" ref="tree=MeSH" title="MedGen record for Ogden syndrome">Ogden syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1843864" ref="tree=MeSH" title="MedGen record for Okamoto syndrome">Okamoto syndrome</a></span></li><li><span class="TLline"><a href="/medgen/342472" ref="tree=MeSH" title="MedGen record for Oliver syndrome">Oliver syndrome</a></span></li><li><span class="TLline"><a href="/medgen/356653" ref="tree=MeSH" title="MedGen record for Omphalocele syndrome, Shprintzen-Goldberg type">Omphalocele syndrome, Shprintzen-Goldberg type</a></span></li><li><span class="TLline"><a href="/medgen/976517" ref="tree=MeSH" title="MedGen record for Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome">Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome</a></span></li><li><span class="TLline"><a href="/medgen/318972" ref="tree=MeSH" title="MedGen record for Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome">Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/946147" ref="tree=MeSH" title="MedGen record for Opitz G/BBB syndrome">Opitz G/BBB 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/307142" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome I">Orofaciodigital syndrome I</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/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/322280" ref="tree=MeSH" title="MedGen record for Orofaciodigital syndrome X">Orofaciodigital syndrome X</a></span></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/928495" ref="tree=MeSH" title="MedGen record for Ossification anomalies-psychomotor developmental delay syndrome">Ossification anomalies-psychomotor developmental delay syndrome</a></span></li><li><span class="TLline"><a href="/medgen/928493" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome">Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/337979" ref="tree=MeSH" title="MedGen record for Osteopenia-intellectual disability-sparse hair syndrome">Osteopenia-intellectual disability-sparse hair syndrome</a></span></li><li><span class="TLline"><a href="/medgen/98480" ref="tree=MeSH" title="MedGen record for Osteoporosis with pseudoglioma">Osteoporosis with pseudoglioma</a></span></li><li><span class="TLline"><a href="/medgen/78542" ref="tree=MeSH" title="MedGen record for Oto-palato-digital syndrome, type I">Oto-palato-digital syndrome, type I</a></span></li><li><span class="TLline"><a href="/medgen/337064" ref="tree=MeSH" title="MedGen record for Oto-palato-digital syndrome, type II">Oto-palato-digital syndrome, type II</a></span></li><li><span class="TLline"><a href="/medgen/322257" ref="tree=MeSH" title="MedGen record for Otofaciocervical syndrome">Otofaciocervical syndrome</a></span></li><li><span class="TLline"><a href="/medgen/333107" ref="tree=MeSH" title="MedGen record for Pachygyria-intellectual disability-epilepsy syndrome">Pachygyria-intellectual disability-epilepsy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/895943" ref="tree=MeSH" title="MedGen record for Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome">Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome</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/163215" ref="tree=MeSH" title="MedGen record for Pallister-W syndrome">Pallister-W syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1808942" ref="tree=MeSH" title="MedGen record for Pancreatic agenesis-holoprosencephaly syndrome">Pancreatic agenesis-holoprosencephaly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/411554" ref="tree=MeSH" title="MedGen record for Paraplegia-intellectual disability-hyperkeratosis syndrome">Paraplegia-intellectual disability-hyperkeratosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/934709" ref="tree=MeSH" title="MedGen record for PERCHING syndrome">PERCHING syndrome</a></span></li><li><span class="TLline"><a href="/medgen/163204" ref="tree=MeSH" title="MedGen record for Peters plus syndrome">Peters plus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/162924" ref="tree=MeSH" title="MedGen record for Pettigrew syndrome">Pettigrew syndrome</a></span></li><li><span class="TLline"><a href="/medgen/342366" ref="tree=MeSH" title="MedGen record for Pfeiffer-Palm-Teller syndrome">Pfeiffer-Palm-Teller syndrome</a></span></li><li><span class="TLline"><a href="/medgen/376231" ref="tree=MeSH" title="MedGen record for PHACE syndrome">PHACE syndrome</a></span></li><li><span class="TLline"><a href="/medgen/339994" ref="tree=MeSH" title="MedGen record for Phelan-McDermid syndrome">Phelan-McDermid syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1641154" ref="tree=MeSH" title="MedGen record for PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome">PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome</a></span></li><li><span class="TLline"><a href="/medgen/356049" ref="tree=MeSH" title="MedGen record for Pierpont syndrome">Pierpont syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1619150" ref="tree=MeSH" title="MedGen record for Pilarowski-Bjornsson syndrome">Pilarowski-Bjornsson syndrome</a></span></li><li><span class="TLline"><a href="/medgen/370910" ref="tree=MeSH" title="MedGen record for Pitt-Hopkins syndrome">Pitt-Hopkins syndrome</a></span></li><li><span class="TLline"><a href="/medgen/894862" ref="tree=MeSH" title="MedGen record for PMP22-RAI1 contiguous gene duplication syndrome">PMP22-RAI1 contiguous gene duplication syndrome</a></span></li><li><span class="TLline"><a href="/medgen/370203" ref="tree=MeSH" title="MedGen record for Polyhydramnios, megalencephaly, and symptomatic epilepsy">Polyhydramnios, megalencephaly, and symptomatic epilepsy</a></span></li><li><span class="TLline"><a href="/medgen/442565" ref="tree=MeSH" title="MedGen record for Polymicrogyria with optic nerve hypoplasia">Polymicrogyria with optic nerve hypoplasia</a></span></li><li><span class="TLline"><a href="/medgen/1665486" ref="tree=MeSH" title="MedGen record for Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome">Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1376905" ref="tree=MeSH" title="MedGen record for Polyvalvular heart disease syndrome">Polyvalvular heart disease syndrome</a></span></li><li><span class="TLline"><a href="/medgen/767140" ref="tree=MeSH" title="MedGen record for Pontocerebellar hypoplasia type 7">Pontocerebellar hypoplasia type 7</a></span></li><li><span class="TLline"><a href="/medgen/1676575" ref="tree=MeSH" title="MedGen record for Pontocerebellar hypoplasia type 10">Pontocerebellar hypoplasia type 10</a></span></li><li><span class="TLline"><a href="/medgen/1627627" ref="tree=MeSH" title="MedGen record for Pontocerebellar hypoplasia, type 11">Pontocerebellar hypoplasia, type 11</a></span></li><li><span class="TLline"><a href="/medgen/1684708" ref="tree=MeSH" title="MedGen record for Pontocerebellar hypoplasia, type 13">Pontocerebellar hypoplasia, type 13</a></span></li><li><span class="TLline"><a href="/medgen/1778516" ref="tree=MeSH" title="MedGen record for Pontocerebellar hypoplasia, type 14">Pontocerebellar hypoplasia, type 14</a></span></li><li><span class="TLline"><a href="/medgen/444010" ref="tree=MeSH" title="MedGen record for Potocki-Lupski syndrome">Potocki-Lupski syndrome</a></span></li><li><span class="TLline"><a href="/medgen/318657" ref="tree=MeSH" title="MedGen record for Potocki-Shaffer syndrome">Potocki-Shaffer 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/444110" ref="tree=MeSH" title="MedGen record for Preaxial polydactyly-colobomata-intellectual disability syndrome">Preaxial polydactyly-colobomata-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/374294" ref="tree=MeSH" title="MedGen record for Prieto syndrome">Prieto syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1675765" ref="tree=MeSH" title="MedGen record for Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome">Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome</a></span></li><li><span class="TLline"><a href="/medgen/162911" ref="tree=MeSH" title="MedGen record for Primrose syndrome">Primrose syndrome</a></span></li><li><span class="TLline"><a href="/medgen/895952" ref="tree=MeSH" title="MedGen record for Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome">Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome</a></span></li><li><span class="TLline"><a href="/medgen/4698" ref="tree=MeSH" title="MedGen record for Progressive myositis ossificans">Progressive myositis ossificans</a></span></li><li><span class="TLline"><a href="/medgen/1800305" ref="tree=MeSH" title="MedGen record for Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome">Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/162900" ref="tree=MeSH" title="MedGen record for Prominent glabella-microcephaly-hypogenitalism syndrome">Prominent glabella-microcephaly-hypogenitalism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/483678" ref="tree=MeSH" title="MedGen record for Pseudo-TORCH syndrome">Pseudo-TORCH syndrome</a></span></li><li><span class="TLline"><a href="/medgen/163196" ref="tree=MeSH" title="MedGen record for Pseudoaminopterin syndrome">Pseudoaminopterin syndrome</a></span></li><li><span class="TLline"><a href="/medgen/163218" ref="tree=MeSH" title="MedGen record for Pseudoprogeria syndrome">Pseudoprogeria syndrome</a></span></li><li><span class="TLline"><a href="/medgen/374001" ref="tree=MeSH" title="MedGen record for Pterygium colli-intellectual disability-digital anomalies syndrome">Pterygium colli-intellectual disability-digital anomalies syndrome</a></span></li><li><span class="TLline"><a href="/medgen/863794" ref="tree=MeSH" title="MedGen record for PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome">PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1564287" ref="tree=MeSH" title="MedGen record for PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation">PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation</a></span></li><li><span class="TLline"><a href="/medgen/1636705" ref="tree=MeSH" title="MedGen record for Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion">Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/976061" ref="tree=MeSH" title="MedGen record for PYCR2-related microcephaly-progressive leukoencephalopathy">PYCR2-related microcephaly-progressive leukoencephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/443987" ref="tree=MeSH" title="MedGen record for Qazi Markouizos syndrome">Qazi Markouizos syndrome</a></span></li><li><span class="TLline"><a href="/medgen/341460" ref="tree=MeSH" title="MedGen record for Radioulnar synostosis-developmental delay-hypotonia syndrome">Radioulnar synostosis-developmental delay-hypotonia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/208669" ref="tree=MeSH" title="MedGen record for Ramon syndrome">Ramon syndrome</a></span></li><li><span class="TLline"><a href="/medgen/418932" ref="tree=MeSH" title="MedGen record for Ramos-Arroyo syndrome">Ramos-Arroyo syndrome</a></span></li><li><span class="TLline"><a href="/medgen/208670" ref="tree=MeSH" title="MedGen record for Renpenning syndrome">Renpenning syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1842506" ref="tree=MeSH" title="MedGen record for Hamel cerebro-palato-cardiac syndrome">Hamel cerebro-palato-cardiac syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1842639" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability, Golabi-Ito-hall type">X-linked intellectual disability, Golabi-Ito-hall type</a></span></li><li><span class="TLline"><a href="/medgen/1842708" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability, Porteous type">X-linked intellectual disability, Porteous type</a></span></li><li><span class="TLline"><a href="/medgen/1842836" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability, Sutherland-Haan type">X-linked intellectual disability, Sutherland-Haan type</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1615526" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome">Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/340317" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome">Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/863679" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome">Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/163219" ref="tree=MeSH" title="MedGen record for Richards-Rundle syndrome">Richards-Rundle syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419686" ref="tree=MeSH" title="MedGen record for Richieri Costa-da Silva syndrome">Richieri Costa-da Silva syndrome</a></span></li><li><span class="TLline"><a href="/medgen/416526" ref="tree=MeSH" title="MedGen record for RIN2 syndrome">RIN2 syndrome</a></span></li><li><span class="TLline"><a href="/medgen/539252" ref="tree=MeSH" title="MedGen record for Ring chromosome 10">Ring chromosome 10</a></span></li><li><span class="TLline"><a href="/medgen/163220" ref="tree=MeSH" title="MedGen record for Ritscher-Schinzel syndrome">Ritscher-Schinzel syndrome</a></span></li><li><span class="TLline"><a href="/medgen/985597" ref="tree=MeSH" title="MedGen record for Roberts syndrome">Roberts syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78535" ref="tree=MeSH" title="MedGen record for Robinow syndrome">Robinow syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1675001" ref="tree=MeSH" title="MedGen record for Autosomal dominant Robinow syndrome">Autosomal dominant Robinow syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1770070" ref="tree=MeSH" title="MedGen record for Autosomal recessive Robinow syndrome">Autosomal recessive Robinow syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/375801" ref="tree=MeSH" title="MedGen record for Roifman syndrome">Roifman 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/120520" ref="tree=MeSH" title="MedGen record for Ruvalcaba syndrome">Ruvalcaba syndrome</a></span></li><li><span class="TLline"><a href="/medgen/977265" ref="tree=MeSH" title="MedGen record for SATB2 associated disorder">SATB2 associated disorder</a></span><ul><li><span class="TLline"><a href="/medgen/1645054" ref="tree=MeSH" title="MedGen record for 2q33.1 microdeletion syndrome">2q33.1 microdeletion syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/343258" ref="tree=MeSH" title="MedGen record for Say-Barber-Miller syndrome">Say-Barber-Miller syndrome</a></span></li><li><span class="TLline"><a href="/medgen/326461" ref="tree=MeSH" title="MedGen record for SCARF syndrome">SCARF 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/767257" ref="tree=MeSH" title="MedGen record for Schuurs-Hoeijmakers syndrome">Schuurs-Hoeijmakers syndrome</a></span></li><li><span class="TLline"><a href="/medgen/343450" ref="tree=MeSH" title="MedGen record for Seizures-intellectual disability due to hydroxylysinuria syndrome">Seizures-intellectual disability due to hydroxylysinuria syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1843293" ref="tree=MeSH" title="MedGen record for SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome">SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1656239" ref="tree=MeSH" title="MedGen record for Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome">Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome</a></span></li><li><span class="TLline"><a href="/medgen/934712" ref="tree=MeSH" title="MedGen record for Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome">Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/902346" ref="tree=MeSH" title="MedGen record for Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome">Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1372948" ref="tree=MeSH" title="MedGen record for Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia">Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia</a></span></li><li><span class="TLline"><a href="/medgen/1808836" ref="tree=MeSH" title="MedGen record for Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome">Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/767362" ref="tree=MeSH" title="MedGen record for Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome">Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome</a></span></li><li><span class="TLline"><a href="/medgen/767363" ref="tree=MeSH" title="MedGen record for Severe intellectual disability-progressive spastic diplegia syndrome">Severe intellectual disability-progressive spastic diplegia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/816183" ref="tree=MeSH" title="MedGen record for Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome">Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1682668" ref="tree=MeSH" title="MedGen record for Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome">Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/812964" ref="tree=MeSH" title="MedGen record for Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome">Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/167088" ref="tree=MeSH" title="MedGen record for Severe X-linked intellectual disability, Gustavson type">Severe X-linked intellectual disability, Gustavson type</a></span></li><li><span class="TLline"><a href="/medgen/934656" ref="tree=MeSH" title="MedGen record for Short stature-brachydactyly-obesity-global developmental delay syndrome">Short stature-brachydactyly-obesity-global developmental delay syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419677" ref="tree=MeSH" title="MedGen record for Short stature-webbed neck-heart disease syndrome">Short stature-webbed neck-heart disease syndrome</a></span></li><li><span class="TLline"><a href="/medgen/350025" ref="tree=MeSH" title="MedGen record for Short stature-wormian bones-dextrocardia syndrome">Short stature-wormian bones-dextrocardia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/164212" ref="tree=MeSH" title="MedGen record for SHORT syndrome">SHORT syndrome</a></span></li><li><span class="TLline"><a href="/medgen/767523" ref="tree=MeSH" title="MedGen record for Short ulna-dysmorphism-hypotonia-intellectual disability syndrome">Short ulna-dysmorphism-hypotonia-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/231160" ref="tree=MeSH" title="MedGen record for Shprintzen-Goldberg syndrome">Shprintzen-Goldberg syndrome</a></span></li><li><span class="TLline"><a href="/medgen/124418" ref="tree=MeSH" title="MedGen record for Shwachman syndrome">Shwachman syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1640046" ref="tree=MeSH" title="MedGen record for Shwachman-Diamond syndrome 1">Shwachman-Diamond syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1634617" ref="tree=MeSH" title="MedGen record for Shwachman-Diamond syndrome 2">Shwachman-Diamond syndrome 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/924303" ref="tree=MeSH" title="MedGen record for Sialidosis type 2">Sialidosis type 2</a></span><ul><li><span class="TLline"><a href="/medgen/1843300" ref="tree=MeSH" title="MedGen record for Congenital sialidosis type 2">Congenital sialidosis type 2</a></span></li><li><span class="TLline"><a href="/medgen/1825999" ref="tree=MeSH" title="MedGen record for Juvenile sialidosis type 2">Juvenile sialidosis type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1387611" ref="tree=MeSH" title="MedGen record for Simpson-Golabi-Behmel syndrome">Simpson-Golabi-Behmel syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/162917" ref="tree=MeSH" title="MedGen record for Simpson-Golabi-Behmel syndrome type 1">Simpson-Golabi-Behmel syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/337527" ref="tree=MeSH" title="MedGen record for Simpson-Golabi-Behmel syndrome type 2">Simpson-Golabi-Behmel syndrome type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/941664" ref="tree=MeSH" title="MedGen record for SIN3A-related intellectual disability syndrome">SIN3A-related intellectual disability syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/462024" ref="tree=MeSH" title="MedGen record for Chromosome 15q24 deletion syndrome">Chromosome 15q24 deletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/934771" ref="tree=MeSH" title="MedGen record for SIN3A-related intellectual disability syndrome due to a point mutation">SIN3A-related intellectual disability syndrome due to a point mutation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/208660" ref="tree=MeSH" title="MedGen record for Skeletal dysplasia-epilepsy-short stature syndrome">Skeletal dysplasia-epilepsy-short stature syndrome</a></span></li><li><span class="TLline"><a href="/medgen/326949" ref="tree=MeSH" title="MedGen record for Skeletal dysplasia-intellectual disability syndrome">Skeletal dysplasia-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1799322" ref="tree=MeSH" title="MedGen record for Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome">Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1627555" ref="tree=MeSH" title="MedGen record for Skraban-Deardorff syndrome">Skraban-Deardorff syndrome</a></span></li><li><span class="TLline"><a href="/medgen/899837" ref="tree=MeSH" title="MedGen record for SLC39A8-CDG">SLC39A8-CDG</a></span></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/1648495" ref="tree=MeSH" title="MedGen record for Snijders Blok-Campeau syndrome">Snijders Blok-Campeau 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/897828" ref="tree=MeSH" title="MedGen record for Spastic paraplegia-severe developmental delay-epilepsy syndrome">Spastic paraplegia-severe developmental delay-epilepsy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/325070" ref="tree=MeSH" title="MedGen record for Split hand-foot malformation 3">Split hand-foot malformation 3</a></span></li><li><span class="TLline"><a href="/medgen/900371" ref="tree=MeSH" title="MedGen record for Spondylo-ocular syndrome">Spondylo-ocular syndrome</a></span></li><li><span class="TLline"><a href="/medgen/338603" ref="tree=MeSH" title="MedGen record for Spondyloepiphyseal dysplasia tarda, Kohn type">Spondyloepiphyseal dysplasia tarda, Kohn type</a></span></li><li><span class="TLline"><a href="/medgen/355919" ref="tree=MeSH" title="MedGen record for Spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability">Spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability</a></span></li><li><span class="TLline"><a href="/medgen/1780157" ref="tree=MeSH" title="MedGen record for Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis">Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis</a></span></li><li><span class="TLline"><a href="/medgen/1714019" ref="tree=MeSH" title="MedGen record for Spondylometaphyseal dysplasia with corneal dystrophy">Spondylometaphyseal dysplasia with corneal dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/860832" ref="tree=MeSH" title="MedGen record for SSR4-congenital disorder of glycosylation">SSR4-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/348505" ref="tree=MeSH" title="MedGen record for Stimmler syndrome">Stimmler syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1814465" ref="tree=MeSH" title="MedGen record for Symptomatic form of Coffin-Lowry syndrome in female carriers">Symptomatic form of Coffin-Lowry syndrome in female carriers</a></span></li><li><span class="TLline"><a href="/medgen/461999" ref="tree=MeSH" title="MedGen record for Syndromic multisystem autoimmune disease due to ITCH deficiency">Syndromic multisystem autoimmune disease due to ITCH deficiency</a></span></li><li><span class="TLline"><a href="/medgen/337403" ref="tree=MeSH" title="MedGen record for Syndromic X-linked intellectual disability 7">Syndromic X-linked intellectual disability 7</a></span></li><li><span class="TLline"><a href="/medgen/902184" ref="tree=MeSH" title="MedGen record for Syndromic X-linked intellectual disability 34">Syndromic X-linked intellectual disability 34</a></span></li><li><span class="TLline"><a href="/medgen/337376" ref="tree=MeSH" title="MedGen record for Syndromic X-linked intellectual disability Abidi type">Syndromic X-linked intellectual disability Abidi type</a></span></li><li><span class="TLline"><a href="/medgen/335139" ref="tree=MeSH" title="MedGen record for Syndromic X-linked intellectual disability Claes-Jensen type">Syndromic X-linked intellectual disability Claes-Jensen type</a></span></li><li><span class="TLline"><a href="/medgen/337496" ref="tree=MeSH" title="MedGen record for Syndromic X-linked intellectual disability Lubs type">Syndromic X-linked intellectual disability Lubs type</a></span></li><li><span class="TLline"><a href="/medgen/437070" ref="tree=MeSH" title="MedGen record for Syndromic X-linked intellectual disability Najm type">Syndromic X-linked intellectual disability Najm type</a></span></li><li><span class="TLline"><a href="/medgen/477095" ref="tree=MeSH" title="MedGen record for Syndromic X-linked intellectual disability Nascimento type">Syndromic X-linked intellectual disability Nascimento type</a></span></li><li><span class="TLline"><a href="/medgen/335348" ref="tree=MeSH" title="MedGen record for Syndromic X-linked intellectual disability Shashi type">Syndromic X-linked intellectual disability Shashi type</a></span></li><li><span class="TLline"><a href="/medgen/395523" ref="tree=MeSH" title="MedGen record for Syndromic X-linked intellectual disability Shrimpton type">Syndromic X-linked intellectual disability Shrimpton type</a></span></li><li><span class="TLline"><a href="/medgen/337375" ref="tree=MeSH" title="MedGen record for Syndromic X-linked intellectual disability Siderius type">Syndromic X-linked intellectual disability Siderius type</a></span></li><li><span class="TLline"><a href="/medgen/162918" ref="tree=MeSH" title="MedGen record for Syndromic X-linked intellectual disability Snyder type">Syndromic X-linked intellectual disability Snyder type</a></span></li><li><span class="TLline"><a href="/medgen/934682" ref="tree=MeSH" title="MedGen record for Tall stature-intellectual disability-renal anomalies syndrome">Tall stature-intellectual disability-renal anomalies syndrome</a></span></li><li><span class="TLline"><a href="/medgen/333324" ref="tree=MeSH" title="MedGen record for TARP syndrome">TARP syndrome</a></span></li><li><span class="TLline"><a href="/medgen/862982" ref="tree=MeSH" title="MedGen record for Tatton-Brown-Rahman overgrowth syndrome">Tatton-Brown-Rahman overgrowth syndrome</a></span></li><li><span class="TLline"><a href="/medgen/799090" ref="tree=MeSH" title="MedGen record for Telecanthus-hypertelorism-strabismus-pes cavus syndrome">Telecanthus-hypertelorism-strabismus-pes cavus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/934745" ref="tree=MeSH" title="MedGen record for TELO2-related intellectual disability-neurodevelopmental disorder">TELO2-related intellectual disability-neurodevelopmental disorder</a></span></li><li><span class="TLline"><a href="/medgen/395636" ref="tree=MeSH" title="MedGen record for Temple-Baraitser syndrome">Temple-Baraitser syndrome</a></span></li><li><span class="TLline"><a href="/medgen/347474" ref="tree=MeSH" title="MedGen record for Temtamy syndrome">Temtamy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/462289" ref="tree=MeSH" title="MedGen record for THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome">THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/396073" ref="tree=MeSH" title="MedGen record for Thumb stiffness-brachydactyly-intellectual disability syndrome">Thumb stiffness-brachydactyly-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/163225" ref="tree=MeSH" title="MedGen record for Toriello-Carey syndrome">Toriello-Carey syndrome</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/1809140" ref="tree=MeSH" title="MedGen record for TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome">TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1814561" ref="tree=MeSH" title="MedGen record for Transketolase deficiency">Transketolase deficiency</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/374138" ref="tree=MeSH" title="MedGen record for Trigonocephaly-short stature-developmental delay syndrome">Trigonocephaly-short stature-developmental delay syndrome</a></span></li><li><span class="TLline"><a href="/medgen/376585" ref="tree=MeSH" title="MedGen record for Ulbright-Hodes syndrome">Ulbright-Hodes syndrome</a></span></li><li><span class="TLline"><a href="/medgen/341275" ref="tree=MeSH" title="MedGen record for Ulna hypoplasia-intellectual disability syndrome">Ulna hypoplasia-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/357886" ref="tree=MeSH" title="MedGen record for Ulnar-mammary syndrome">Ulnar-mammary syndrome</a></span></li><li><span class="TLline"><a href="/medgen/376448" ref="tree=MeSH" title="MedGen record for Upper limb defect-eye and ear abnormalities syndrome">Upper limb defect-eye and ear abnormalities syndrome</a></span></li><li><span class="TLline"><a href="/medgen/162919" ref="tree=MeSH" title="MedGen record for Urban-Rogers-Meyer syndrome">Urban-Rogers-Meyer syndrome</a></span></li><li><span class="TLline"><a href="/medgen/811762" ref="tree=MeSH" title="MedGen record for Uveal coloboma-cleft lip and palate-intellectual disability">Uveal coloboma-cleft lip and palate-intellectual disability</a></span></li><li><span class="TLline"><a href="/medgen/376400" ref="tree=MeSH" title="MedGen record for VACTERL with hydrocephalus">VACTERL with hydrocephalus</a></span></li><li><span class="TLline"><a href="/medgen/162920" ref="tree=MeSH" title="MedGen record for Van den Bosch syndrome">Van den Bosch syndrome</a></span></li><li><span class="TLline"><a href="/medgen/318616" ref="tree=MeSH" title="MedGen record for Van Maldergem syndrome">Van Maldergem syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1644627" ref="tree=MeSH" title="MedGen record for Van Maldergem syndrome 1">Van Maldergem syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/816205" ref="tree=MeSH" title="MedGen record for Van Maldergem syndrome 2">Van Maldergem syndrome 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1647785" ref="tree=MeSH" title="MedGen record for Ververi-Brady syndrome">Ververi-Brady 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/930071" ref="tree=MeSH" title="MedGen record for Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome">Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120511" ref="tree=MeSH" title="MedGen record for Weaver syndrome">Weaver syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1392915" ref="tree=MeSH" title="MedGen record for Weaver-Williams syndrome">Weaver-Williams syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419038" ref="tree=MeSH" title="MedGen record for White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome">White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/163227" ref="tree=MeSH" title="MedGen record for Wieacker-Wolff syndrome">Wieacker-Wolff syndrome</a></span></li><li><span class="TLline"><a href="/medgen/340266" ref="tree=MeSH" title="MedGen record for Wiedemann-Steiner syndrome">Wiedemann-Steiner syndrome</a></span></li><li><span class="TLline"><a href="/medgen/59799" ref="tree=MeSH" title="MedGen record for Williams syndrome">Williams syndrome</a></span></li><li><span class="TLline"><a href="/medgen/333393" ref="tree=MeSH" title="MedGen record for Wilson-Turner syndrome">Wilson-Turner syndrome</a></span></li><li><span class="TLline"><a href="/medgen/140926" ref="tree=MeSH" title="MedGen record for Wolcott-Rallison dysplasia">Wolcott-Rallison dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/477118" ref="tree=MeSH" title="MedGen record for X-linked cerebral-cerebellar-coloboma syndrome syndrome">X-linked cerebral-cerebellar-coloboma syndrome syndrome</a></span></li><li><span class="TLline"><a href="/medgen/813072" ref="tree=MeSH" title="MedGen record for X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome">X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome</a></span></li><li><span class="TLline"><a href="/medgen/477107" ref="tree=MeSH" title="MedGen record for X-linked dominant chondrodysplasia, Chassaing-Lacombe type">X-linked dominant chondrodysplasia, Chassaing-Lacombe type</a></span></li><li><span class="TLline"><a href="/medgen/1798946" ref="tree=MeSH" title="MedGen record for X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability">X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability</a></span></li><li><span class="TLline"><a href="/medgen/337334" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability Cabezas type">X-linked intellectual disability Cabezas type</a></span></li><li><span class="TLline"><a href="/medgen/1675094" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability due to GRIA3 anomalies">X-linked intellectual disability due to GRIA3 anomalies</a></span></li><li><span class="TLline"><a href="/medgen/167096" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability with marfanoid habitus">X-linked intellectual disability with marfanoid habitus</a></span></li><li><span class="TLline"><a href="/medgen/930693" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability, Cilliers type">X-linked intellectual disability, Cilliers type</a></span></li><li><span class="TLline"><a href="/medgen/930695" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability, Pai type">X-linked intellectual disability, Pai type</a></span></li><li><span class="TLline"><a href="/medgen/374193" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability, Schimke type">X-linked intellectual disability, Schimke type</a></span></li><li><span class="TLline"><a href="/medgen/930757" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability, Seemanova type">X-linked intellectual disability, Seemanova type</a></span></li><li><span class="TLline"><a href="/medgen/930746" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability, Stevenson type">X-linked intellectual disability, Stevenson type</a></span></li><li><span class="TLline"><a href="/medgen/335202" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability, Stocco dos Santos type">X-linked intellectual disability, Stocco dos Santos type</a></span></li><li><span class="TLline"><a href="/medgen/930744" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability, Stoll type">X-linked intellectual disability, Stoll type</a></span></li><li><span class="TLline"><a href="/medgen/930741" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability, van Esch type">X-linked intellectual disability, van Esch type</a></span></li><li><span class="TLline"><a href="/medgen/930076" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability-acromegaly-hyperactivity syndrome">X-linked intellectual disability-acromegaly-hyperactivity syndrome</a></span></li><li><span class="TLline"><a href="/medgen/336920" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability-cerebellar hypoplasia syndrome">X-linked intellectual disability-cerebellar hypoplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1811349" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome">X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/394716" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability-craniofacioskeletal syndrome">X-linked intellectual disability-craniofacioskeletal syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1801270" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability-cubitus valgus-dysmorphism syndrome">X-linked intellectual disability-cubitus valgus-dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/930586" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome">X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/977993" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome">X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome</a></span></li><li><span class="TLline"><a href="/medgen/930588" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome">X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome</a></span></li><li><span class="TLline"><a href="/medgen/162925" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome">X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome</a></span></li><li><span class="TLline"><a href="/medgen/930075" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability-macrocephaly-macroorchidism syndrome">X-linked intellectual disability-macrocephaly-macroorchidism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419824" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability-plagiocephaly syndrome">X-linked intellectual disability-plagiocephaly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/501947" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability-seizures-psoriasis syndrome">X-linked intellectual disability-seizures-psoriasis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/901885" ref="tree=MeSH" title="MedGen record for X-linked intellectual disability-short stature-overweight syndrome">X-linked intellectual disability-short stature-overweight syndrome</a></span></li><li><span class="TLline"><a href="/medgen/375543" ref="tree=MeSH" title="MedGen record for X-linked mandibulofacial dysostosis">X-linked mandibulofacial dysostosis</a></span></li><li><span class="TLline"><a href="/medgen/1812501" ref="tree=MeSH" title="MedGen record for X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome">X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/337124" ref="tree=MeSH" title="MedGen record for X-linked spinocerebellar ataxia type 3">X-linked spinocerebellar ataxia type 3</a></span></li><li><span class="TLline"><a href="/medgen/1684472" ref="tree=MeSH" title="MedGen record for Xp22.13p22.2 duplication syndrome">Xp22.13p22.2 duplication syndrome</a></span></li><li><span class="TLline"><a href="/medgen/935016" ref="tree=MeSH" title="MedGen record for Xq25 microduplication syndrome">Xq25 microduplication syndrome</a></span></li><li><span class="TLline"><a href="/medgen/422434" ref="tree=MeSH" title="MedGen record for XXYY syndrome">XXYY syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1659170" ref="tree=MeSH" title="MedGen record for XYLT1-congenital disorder of glycosylation">XYLT1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/341818" ref="tree=MeSH" title="MedGen record for Yunis-Varon syndrome">Yunis-Varon syndrome</a></span></li><li><span class="TLline"><a href="/medgen/416693" ref="tree=MeSH" title="MedGen record for Zechi-Ceide syndrome">Zechi-Ceide syndrome</a></span></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><li><span class="TLline"><a href="/medgen/208656" ref="tree=MeSH" title="MedGen record for Zimmermann-Laband syndrome">Zimmermann-Laband syndrome</a></span></li><li><span class="TLline"><a href="/medgen/934663" ref="tree=MeSH" title="MedGen record for ZTTK syndrome">ZTTK syndrome</a></span></li></ul></li></ul></div></div></div></div>
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<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
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=102283" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Multiple%20congenital%20anomalies/dysmorphic%20syndrome-intellectual%20disability" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Multiple%20congenital%20anomalies/dysmorphic%20syndrome-intellectual%20disability" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/19832/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/clinical?term=Multiple%20congenital%20anomalies/dysmorphic%20syndrome-intellectual%20disability" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Multiple%20congenital%20anomalies/dysmorphic%20syndrome-intellectual%20disability%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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