{"orpha":140874,"name":"Joubert syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["JS"],"definition":"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-140874/","orphanet_url":"https://www.orpha.net/en/disease/detail/140874","names":{"fr":{"name":"Syndrome de Joubert","synonyms":["SJ"],"definition":"Le syndrome de Joubert et les maladies associées (SJMA) forme un groupe de syndromes polymalformatifs congénitaux et de retards du développement dont le signe cardinal est le \"signe de la molaire\" (SDM) qui définit un complexe malformatif du rhombo-diencéphale sur l'imagerie cérébrale. Le SDM se caractérise par une hypoplasie du vermis cérébelleux, un épaississement et une élongation des pédoncules supérieurs avec un élargissement anormal de la fosse interpédonculaire."},"de":{"name":"Joubert-Syndrom","synonyms":["JS"],"definition":"Das Joubert-Syndrom (JS) und verwandte Krankheiten (JSRDs) sind eine Gruppe von Syndromen mit verzögerter Entwicklung und multiplen Fehlbildungen, bei denen als obligatorisches Symptom mit zerebraler Bildgebung das 'Backenzahnzeichen' (MTS), eine komplexe Fehlbildung des Mittel- und Endhirns, erkennbar ist. Das MTS ist gekennzeichnet durch Hypo-/dysplasie des Kleinhirnwurms, Verdickung und Fehlorientierung der Kleinhirnstiele und eine abnorm tiefe interpedunkuläre Grube."},"es":{"name":"Síndrome de Joubert","synonyms":["SJ"],"definition":"El síndrome de Joubert (JS) y trastornos relacionados (JSRD) son un grupo de síndromes de retraso del desarrollo/anomalías congénitas múltiples en los que el rasgo obligatorio es el 'signo del diente molar' (MTS), malformación compleja del mesencéfalo-rombencéfalo reconocible mediante imagen cerebral. El MTS se caracteriza por una hipodisplasia del vermis cerebeloso, espesamiento y mala orientación del pedúnculo cerebeloso superior y fosa interpeduncular anormalmente profunda."},"it":{"name":"Sindrome di Joubert","synonyms":["JS"],"definition":"La sindrome di Joubert (JS) ed i disturbi correlati (JSRD) sono un gruppo di sindromi da difetti congeniti multipli/ritardo dello sviluppo, nelle quali il sintomo principale è il cosiddetto \"segno del dente molare\" (MTS), una malformazione complessa del mesencefalo/rombencefalo visibile all'imaging cerebrale. Il MTS è caratterizzato da ipodisplasia del verme cerebellare, ispessimento e malposizionamento dei peduncoli cerebellari superiori e anomalo approfondimento della fossa interpeduncolare."},"nl":{"name":"Syndroom van Joubert","synonyms":["JS"],"definition":"Het Joubertsyndroom (JS) en aanverwante aandoeningen (JSRD) is een groep syndromen met ontwikkelingsstoornissen/meervoudige aangeboren afwijkingen waarin als verplicht kenmerk het \"molar tooth sign\" (MTS) voorkomt, een complexe afwijking van de midden-en achterhersenen die te herkennen is via hersenscans. Het MTS is gekenmerkt door hypoplasie van de vermis cerebelli, verdikking en onjuiste oriëntatie van de pedunculus cerebellaris superior en een ongewoon diepe fossa interpeduncularis."},"pt":{"name":"Síndrome Joubert e doenças relacionadas","definition":"A síndrome Joubert (JS) e as doenças associadas (JSRD) são um grupo de perturbações do desenvolvimento/síndromes de anomalias congénitas múltiplas em que a característica obrigatória é o ''sinal do dente molar'' (MTS), uma malformação do mesencéfalo-rombencéfalo complexa reconhecível em imagiologia cerebral. O MTS é caracterizado por hipodisplasia do vermis cerebeloso, espessamento e má orientação dos pedúnculos cerebelosos superiores e fossa interpeduncular anormalmente profunda."},"pl":{"name":"Zespół Joubert i zaburzeń pokrewnych","synonyms":["JSRD"]},"cs":{"name":"Joubertův syndrom a příbuzné nemoci","synonyms":["JSRD"]},"uk":{"name":"Синдром Жубера та повязані з ним розлади","synonyms":["JSRD"],"definition":"Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa."},"zh":{"name":"Joubert综合征及相关障碍","synonyms":["JSRD"],"definition":"Joubert综合征（JS）及其相关疾病（JSRD）是一组发育迟缓/多发性先天性异常综合征，其主要特征是“臼齿征”（MTS），这是一种脑成像可识别的复杂中脑后脑畸形。MTS的特征是小脑蚓部发育不良，小脑上脚增厚和定向错误，脚间窝深度异常。"},"tr":{"name":"Joubert sendromu ve ilgili bozukluklar","synonyms":["JSRD"]}},"xrefs":[{"source":"MONDO","code":"0015369","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"15369","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679612","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19931","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98095,"name":"Autosomal recessive congenital cerebellar ataxia","classifications":[156,181]},{"orpha":269567,"name":"Genetic syndrome with a cerebellar malformation as a major feature","classifications":[156]},{"orpha":519341,"name":"Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature","classifications":[189]},{"orpha":522506,"name":"Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature","classifications":[156]},{"orpha":269523,"name":"Syndrome with a cerebellar malformation as a major feature","classifications":[147,181]}],"children":[{"orpha":475,"name":"Isolated Joubert syndrome","type":"Clinical subtype"},{"orpha":397715,"name":"Joubert syndrome with Jeune asphyxiating thoracic dystrophy","type":"Clinical subtype"},{"orpha":1454,"name":"Joubert syndrome with hepatic defect","type":"Clinical subtype"},{"orpha":220493,"name":"Joubert syndrome with ocular anomaly","type":"Clinical subtype"},{"orpha":2318,"name":"Joubert syndrome with oculorenal defect","type":"Clinical subtype"},{"orpha":220497,"name":"Joubert syndrome with renal defect","type":"Clinical subtype"},{"orpha":2754,"name":"Orofaciodigital syndrome type 6","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"CBY1","name":"chibby 1, beta catenin antagonist","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"33131181[PMID]","hgnc":"1307","ensembl":"ENSG00000100211","omim":"607757","loci":["22q13.1"],"via":{"orpha":475,"name":"Isolated Joubert syndrome"}},{"symbol":"CEP41","name":"centrosomal protein 41","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22246503[PMID]","hgnc":"12370","ensembl":"ENSG00000106477","omim":"610523","loci":["7q32.2"],"via":{"orpha":475,"name":"Isolated Joubert syndrome"}},{"symbol":"CEP41","name":"centrosomal protein 41","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301500[PMID]_22246503[PMID]","hgnc":"12370","ensembl":"ENSG00000106477","omim":"610523","loci":["7q32.2"],"via":{"orpha":220493,"name":"Joubert syndrome with ocular anomaly"}},{"symbol":"CSPP1","name":"centrosome and spindle pole associated protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24360808[PMID]_24360803[PMID]","hgnc":"26193","ensembl":"ENSG00000104218","omim":"611654","loci":["8q13.1-q13.2"],"via":{"orpha":475,"name":"Isolated Joubert syndrome"}},{"symbol":"CSPP1","name":"centrosome and spindle pole associated protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24360808[PMID]","hgnc":"26193","ensembl":"ENSG00000104218","omim":"611654","loci":["8q13.1-q13.2"],"via":{"orpha":397715,"name":"Joubert syndrome with Jeune asphyxiating thoracic dystrophy"}},{"symbol":"KATNIP","name":"katanin interacting protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26714646[PMID]","hgnc":"29068","ensembl":"ENSG00000047578","omim":"616650","loci":["16p12.1"],"via":{"orpha":475,"name":"Isolated Joubert syndrome"}},{"symbol":"KIAA0586","name":"KIAA0586","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26386044[PMID]","hgnc":"19960","ensembl":"ENSG00000100578","omim":"610178","loci":["14q23.1"],"via":{"orpha":397715,"name":"Joubert syndrome with Jeune asphyxiating thoracic dystrophy"}},{"symbol":"PDE6D","name":"phosphodiesterase 6D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24166846[PMID]","hgnc":"8788","ensembl":"ENSG00000156973","omim":"602676","loci":["2q37.1"],"via":{"orpha":2754,"name":"Orofaciodigital syndrome type 6"}},{"symbol":"TMEM138","name":"transmembrane protein 138","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22282472[PMID]","hgnc":"26944","ensembl":"ENSG00000149483","omim":"614459","loci":["11q12.2"],"via":{"orpha":2318,"name":"Joubert syndrome with oculorenal defect"}},{"symbol":"TMEM218","name":"transmembrane protein 218","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"33791682[PMID]","hgnc":"27344","ensembl":"ENSG00000150433","omim":"619285","loci":["11q24.2"],"via":{"orpha":475,"name":"Isolated Joubert syndrome"}},{"symbol":"AHI1","name":"Abelson helper integration site 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22693042[PMID]","hgnc":"21575","ensembl":"ENSG00000135541","omim":"608894","loci":["6q23.3"],"via":{"orpha":475,"name":"Isolated Joubert syndrome"}},{"symbol":"AHI1","name":"Abelson helper integration site 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20615230[PMID]_20301500[PMID]","hgnc":"21575","ensembl":"ENSG00000135541","omim":"608894","loci":["6q23.3"],"via":{"orpha":220493,"name":"Joubert syndrome with ocular anomaly"}},{"symbol":"ARL13B","name":"ARF like GTPase 13B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18674751[PMID]_20301500[PMID]","hgnc":"25419","ensembl":"ENSG00000169379","omim":"608922","loci":["3q11.1-q11.2"],"via":{"orpha":475,"name":"Isolated Joubert syndrome"}},{"symbol":"ARL3","name":"ARF like GTPase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30269812[PMID]","hgnc":"694","ensembl":"ENSG00000138175","omim":"604695","loci":["10q24.32"],"via":{"orpha":475,"name":"Isolated Joubert syndrome"}},{"symbol":"ARMC9","name":"armadillo repeat containing 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28625504[PMID]","hgnc":"20730","ensembl":"ENSG00000135931","omim":"617612","loci":["2q37.1"],"via":{"orpha":475,"name":"Isolated Joubert syndrome"}},{"symbol":"B9D1","name":"B9 domain containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24886560[PMID]","hgnc":"24123","ensembl":"ENSG00000108641","omim":"614144","loci":["17p11.2"],"via":{"orpha":475,"name":"Isolated Joubert syndrome"}},{"symbol":"B9D2","name":"B9 domain containing 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26092869[PMID]","hgnc":"28636","ensembl":"ENSG00000123810","omim":"611951","loci":["19q13.2"],"via":{"orpha":475,"name":"Isolated Joubert syndrome"}},{"symbol":"CC2D2A","name":"coiled-coil and C2 domain containing 2A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19574260[PMID]_20301500[PMID]","hgnc":"29253","ensembl":"ENSG00000048342","omim":"612013","loci":["4p15.32"],"via":{"orpha":1454,"name":"Joubert syndrome with hepatic defect"}},{"symbol":"CC2D2A","name":"coiled-coil and C2 domain containing 2A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301500[PMID]","hgnc":"29253","ensembl":"ENSG00000048342","omim":"612013","loci":["4p15.32"],"via":{"orpha":2318,"name":"Joubert syndrome with oculorenal defect"}},{"symbol":"CEP104","name":"centrosomal protein 104","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26477546[PMID]","hgnc":"24866","ensembl":"ENSG00000116198","omim":"616690","loci":["1p36.32"],"via":{"orpha":475,"name":"Isolated Joubert syndrome"}},{"symbol":"CEP120","name":"centrosomal protein 120","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27208211[PMID]","hgnc":"26690","ensembl":"ENSG00000168944","omim":"613446","loci":["5q23.2"],"via":{"orpha":475,"name":"Isolated Joubert syndrome"}},{"symbol":"CEP120","name":"centrosomal protein 120","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27208211[PMID]","hgnc":"26690","ensembl":"ENSG00000168944","omim":"613446","loci":["5q23.2"],"via":{"orpha":220493,"name":"Joubert syndrome with ocular anomaly"}},{"symbol":"CEP290","name":"centrosomal protein 290","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20615230[PMID]_20301500[PMID]","hgnc":"29021","ensembl":"ENSG00000198707","omim":"610142","loci":["12q21.32"],"via":{"orpha":2318,"name":"Joubert syndrome with oculorenal defect"}},{"symbol":"CPLANE1","name":"ciliogenesis and planar polarity effector complex subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22425360[PMID]_22693042[PMID]","hgnc":"25801","ensembl":"ENSG00000197603","omim":"614571","loci":["5p13.2"],"via":{"orpha":475,"name":"Isolated Joubert syndrome"}},{"symbol":"CPLANE1","name":"ciliogenesis and planar polarity effector complex subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24178751[PMID]","hgnc":"25801","ensembl":"ENSG00000197603","omim":"614571","loci":["5p13.2"],"via":{"orpha":2754,"name":"Orofaciodigital syndrome type 6"}},{"symbol":"FAM149B1","name":"family with sequence similarity 149 member B1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30905400[PMID]","hgnc":"29162","ensembl":"ENSG00000138286","omim":"618413","loci":["10q22.2"],"via":{"orpha":2754,"name":"Orofaciodigital syndrome type 6"}},{"symbol":"HYLS1","name":"HYLS1 centriolar and ciliogenesis associated","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26830932[PMID]","hgnc":"26558","ensembl":"ENSG00000198331","omim":"610693","loci":["11q24.2"],"via":{"orpha":475,"name":"Isolated Joubert syndrome"}},{"symbol":"IFT74","name":"intraflagellar transport 74","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33531668[PMID]","hgnc":"21424","ensembl":"ENSG00000096872","omim":"608040","loci":["9p21.2"],"via":{"orpha":475,"name":"Isolated Joubert syndrome"}},{"symbol":"INPP5E","name":"inositol polyphosphate-5-phosphatase E","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19668216[PMID]","hgnc":"21474","ensembl":"ENSG00000148384","omim":"613037","loci":["9q34.3"],"via":{"orpha":475,"name":"Isolated Joubert syndrome"}},{"symbol":"INPP5E","name":"inositol polyphosphate-5-phosphatase E","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301500[PMID]_19668216[PMID]","hgnc":"21474","ensembl":"ENSG00000148384","omim":"613037","loci":["9q34.3"],"via":{"orpha":1454,"name":"Joubert syndrome with hepatic defect"}},{"symbol":"INPP5E","name":"inositol polyphosphate-5-phosphatase E","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23386033[PMID]_19668216[PMID]_20301500[PMID]","hgnc":"21474","ensembl":"ENSG00000148384","omim":"613037","loci":["9q34.3"],"via":{"orpha":220493,"name":"Joubert syndrome with ocular anomaly"}},{"symbol":"KIAA0586","name":"KIAA0586","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26096313[PMID]","hgnc":"19960","ensembl":"ENSG00000100578","omim":"610178","loci":["14q23.1"],"via":{"orpha":475,"name":"Isolated Joubert syndrome"}},{"symbol":"KIAA0753","name":"KIAA0753","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28220259[PMID]","hgnc":"29110","ensembl":"ENSG00000198920","omim":"617112","loci":["17p13.1"],"via":{"orpha":475,"name":"Isolated Joubert syndrome"}},{"symbol":"KIAA0753","name":"KIAA0753","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26643951[PMID]","hgnc":"29110","ensembl":"ENSG00000198920","omim":"617112","loci":["17p13.1"],"via":{"orpha":2754,"name":"Orofaciodigital syndrome type 6"}},{"symbol":"KIF7","name":"kinesin family member 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301500[PMID]_21633164[PMID]","hgnc":"30497","ensembl":"ENSG00000166813","omim":"611254","loci":["15q26.1"],"via":{"orpha":2754,"name":"Orofaciodigital syndrome type 6"}},{"symbol":"MKS1","name":"MKS transition zone complex subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24886560[PMID]","hgnc":"7121","ensembl":"ENSG00000011143","omim":"609883","loci":["17q22"],"via":{"orpha":475,"name":"Isolated Joubert syndrome"}},{"symbol":"MKS1","name":"MKS transition zone complex subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24886560[PMID]","hgnc":"7121","ensembl":"ENSG00000011143","omim":"609883","loci":["17q22"],"via":{"orpha":220493,"name":"Joubert syndrome with ocular anomaly"}},{"symbol":"NPHP1","name":"nephrocystin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20615230[PMID]_20301500[PMID]","hgnc":"7905","ensembl":"ENSG00000144061","omim":"607100","loci":["2q13"],"via":{"orpha":220497,"name":"Joubert syndrome with renal defect"}},{"symbol":"OFD1","name":"OFD1 centriole and centriolar satellite protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19800048[PMID]","hgnc":"2567","ensembl":"ENSG00000046651","omim":"300170","loci":["Xp22.2"],"via":{"orpha":475,"name":"Isolated Joubert syndrome"}},{"symbol":"OFD1","name":"OFD1 centriole and centriolar satellite protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301500[PMID]","hgnc":"2567","ensembl":"ENSG00000046651","omim":"300170","loci":["Xp22.2"],"via":{"orpha":2754,"name":"Orofaciodigital syndrome type 6"}},{"symbol":"PDE6D","name":"phosphodiesterase 6D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24166846[PMID]","hgnc":"8788","ensembl":"ENSG00000156973","omim":"602676","loci":["2q37.1"],"via":{"orpha":475,"name":"Isolated Joubert syndrome"}},{"symbol":"PIBF1","name":"progesterone immunomodulatory binding factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26167768[PMID]","hgnc":"23352","ensembl":"ENSG00000083535","omim":"607532","loci":["13q21.33-q22.1"],"via":{"orpha":475,"name":"Isolated Joubert syndrome"}},{"symbol":"RPGRIP1L","name":"RPGRIP1 like","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19574260[PMID]_20301500[PMID]","hgnc":"29168","ensembl":"ENSG00000103494","omim":"610937","loci":["16q12.2"],"via":{"orpha":1454,"name":"Joubert syndrome with hepatic defect"}},{"symbol":"RPGRIP1L","name":"RPGRIP1 like","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20615230[PMID]_20301500[PMID]","hgnc":"29168","ensembl":"ENSG00000103494","omim":"610937","loci":["16q12.2"],"via":{"orpha":220497,"name":"Joubert syndrome with renal defect"}},{"symbol":"SUFU","name":"SUFU negative regulator of hedgehog signaling","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33024317[PMID]","hgnc":"16466","ensembl":"ENSG00000107882","omim":"607035","loci":["10q24.32"],"via":{"orpha":475,"name":"Isolated Joubert syndrome"}},{"symbol":"TCTN1","name":"tectonic family member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21725307[PMID]_20301500[PMID]","hgnc":"26113","ensembl":"ENSG00000204852","omim":"609863","loci":["12q24.11"],"via":{"orpha":475,"name":"Isolated Joubert syndrome"}},{"symbol":"TCTN2","name":"tectonic family member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21565611[PMID]","hgnc":"25774","ensembl":"ENSG00000168778","omim":"613846","loci":["12q24.31"],"via":{"orpha":475,"name":"Isolated Joubert syndrome"}},{"symbol":"TCTN3","name":"tectonic family member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22883145[PMID]","hgnc":"24519","ensembl":"ENSG00000119977","omim":"613847","loci":["10q24.1"],"via":{"orpha":475,"name":"Isolated Joubert syndrome"}},{"symbol":"TCTN3","name":"tectonic family member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22883145[PMID]_20301500[PMID]","hgnc":"24519","ensembl":"ENSG00000119977","omim":"613847","loci":["10q24.1"],"via":{"orpha":2754,"name":"Orofaciodigital syndrome type 6"}},{"symbol":"TMEM216","name":"transmembrane protein 216","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301500[PMID]","hgnc":"25018","ensembl":"ENSG00000187049","omim":"613277","loci":["11q13.1"],"via":{"orpha":2318,"name":"Joubert syndrome with oculorenal defect"}},{"symbol":"TMEM216","name":"transmembrane protein 216","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20615230[PMID]_20301500[PMID]","hgnc":"25018","ensembl":"ENSG00000187049","omim":"613277","loci":["11q13.1"],"via":{"orpha":2754,"name":"Orofaciodigital syndrome type 6"}},{"symbol":"TMEM231","name":"transmembrane protein 231","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301500[PMID]_23012439[PMID]","hgnc":"37234","ensembl":"ENSG00000205084","omim":"614949","loci":["16q23.1"],"via":{"orpha":2318,"name":"Joubert syndrome with oculorenal defect"}},{"symbol":"TMEM231","name":"transmembrane protein 231","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26982032[PMID]","hgnc":"37234","ensembl":"ENSG00000205084","omim":"614949","loci":["16q23.1"],"via":{"orpha":2754,"name":"Orofaciodigital syndrome type 6"}},{"symbol":"TMEM237","name":"transmembrane protein 237","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22693042[PMID]_22152675[PMID]","hgnc":"14432","ensembl":"ENSG00000155755","omim":"614423","loci":["2q33.1"],"via":{"orpha":475,"name":"Isolated Joubert syndrome"}},{"symbol":"TMEM237","name":"transmembrane protein 237","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301500[PMID]_22152675[PMID]","hgnc":"14432","ensembl":"ENSG00000155755","omim":"614423","loci":["2q33.1"],"via":{"orpha":2318,"name":"Joubert syndrome with oculorenal defect"}},{"symbol":"TMEM237","name":"transmembrane protein 237","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301500[PMID]_22152675[PMID]","hgnc":"14432","ensembl":"ENSG00000155755","omim":"614423","loci":["2q33.1"],"via":{"orpha":220497,"name":"Joubert syndrome with renal defect"}},{"symbol":"TMEM67","name":"transmembrane protein 67","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17160906[PMID]","hgnc":"28396","ensembl":"ENSG00000164953","omim":"609884","loci":["8q22.1"],"via":{"orpha":475,"name":"Isolated Joubert syndrome"}},{"symbol":"TMEM67","name":"transmembrane protein 67","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19574260[PMID]_17160906[PMID]_20615230[PMID]_20301500[PMID]","hgnc":"28396","ensembl":"ENSG00000164953","omim":"609884","loci":["8q22.1"],"via":{"orpha":1454,"name":"Joubert syndrome with hepatic defect"}},{"symbol":"TOGARAM1","name":"TOG array regulator of axonemal microtubules 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32453716[PMID]","hgnc":"19959","ensembl":"ENSG00000198718","omim":"617618","loci":["14q21.2"],"via":{"orpha":475,"name":"Isolated Joubert syndrome"}},{"symbol":"TOPORS","name":"TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34132027[PMID]","hgnc":"21653","ensembl":"ENSG00000197579","omim":"609507","loci":["9p21.1"],"via":{"orpha":2754,"name":"Orofaciodigital syndrome type 6"}},{"symbol":"ZNF423","name":"zinc finger protein 423","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22863007[PMID]","hgnc":"16762","ensembl":"ENSG00000102935","omim":"604557","loci":["16q12.1"],"via":{"orpha":2318,"name":"Joubert syndrome with oculorenal defect"}}],"inheritance":["Autosomal recessive","X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.1,"area":"Worldwide","status":"Validated","source":"18054307[PMID]_17377524[PMID]_20301500[PMID]_20615230[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"United States","status":"Validated","source":"20615230[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Netherlands","status":"Validated","source":"18054307[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":">1 / 1000","value":666.67,"area":"North America","status":"Validated","source":"22152675[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}