{"orpha":220386,"name":"Semilobar holoprosencephaly","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A form of holoprosencephaly characterized by fusion of the left and right frontal and parietal lobes with only a posterior interhemispheric fissure. Craniofacial features variably include ocular hypotelorism, midline cleft lip (complete or partial) and a flat nose.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-220386/","orphanet_url":"https://www.orpha.net/en/disease/detail/220386","names":{"fr":{"name":"Holoprosencéphalie semi-lobaire","definition":"Forme de holoprosencéphalie caractérisée avec fusion des lobes frontaux et pariétaux droits et gauches, la scissure interhémisphérique n'étant que partielle et postérieure. Les caractéristiques craniofaciales sont variables : hypotelorisme oculaire, fente labiale médiane (complète ou partielle) et un nez aplati."},"de":{"name":"Holoprosenzephalie, semilobäre","definition":"Ein klassische Form der Holoprosenzephalie, die durch die Verschmelzung des linken und rechten Frontal- und Parietallappens mit nur einer hinteren interhemisphärischen Spalte gekennzeichnet ist. Zu den unterschiedlichen kraniofazialen Merkmalen gehören Augenhypotelorismus, Mittellippenspalte (vollständig oder teilweise) und eine flache Nase."},"es":{"name":"Holoprosencefalia semilobar","definition":"Es una forma de holoprosencefalia caracterizada por la fusión de los lóbulos frontales y parietal izquierdo y derecho con sólo una cisura interhemisférica posterior. Las características craneofaciales incluyen hipotelorismo ocular, labio leporino en la línea media (completa o parcial) y nariz plana, de manera variable."},"it":{"name":"Oloprosencefalia semilobare","definition":"Si tratta di una forma di oloprosencefalia nella quale i lobi parietale e frontale si fondono a sinistra e a destra e la scissura interemisferica è presente solo posteriormente. I dismorfismi craniofacciali comprendono l'ipotelorismo oculare, la labioschisi della linea mediana (completa o parziale) e il naso appiattito."},"nl":{"name":"Semilobaire holoprosencefalie","definition":"Een vorm van holoprosencefalie, gekarakteriseerd door fusie van linker en rechter frontale en parietale kwabben met enkel een posterieure longitudinale groeve tussen beide hemisferen. Craniofaciale kenmerken zijn variabel, met onder meer oculair hypotelorisme, mediaan gespleten lip (volledig of gedeeltelijk) en platte neus."},"pt":{"name":"Holoprosencefalia semilobar","definition":"A holoprosencefalia semilobar é uma das formas clássicas de holoprosencefalia (HPE, ver este termo) em que os lobos frontais e parietais esquerdo e direito estão fundidos e a fissura inter-hemisférica está presente apenas posteriormente."},"pl":{"name":"Holoprosencefalia semilobarna"},"cs":{"name":"Semilobární holoprosencefalie"},"uk":{"name":"Напівлобарна голопрозенцефалія","definition":"A form of holoprosencephaly characterized by fusion of the left and right frontal and parietal lobes with only a posterior interhemispheric fissure. Craniofacial features variably include ocular hypotelorism, midline cleft lip (complete or partial) and a flat nose."},"zh":{"name":"前脑无裂畸形","definition":"半叶性前脑无裂畸形是前脑无裂畸形（HPE；见该词条）的一种经典形式，表现为左、右额叶和顶叶融合，大脑半球间裂仅在后部出现。"},"tr":{"name":"Semilobar holoprosensefali"}},"xrefs":[{"source":"OMIM","code":"157170","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"301043","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609637","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610829","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA05.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"97445313"},{"source":"UMLS","code":"C0751617","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2162,"name":"Holoprosencephaly","classifications":[147,156,181,193]}],"children":[],"genes":[{"symbol":"SMC1A","name":"structural maintenance of chromosomes 1A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"31334757[PMID]","hgnc":"11111","ensembl":"ENSG00000072501","omim":"300040","loci":["Xp11.22"]},{"symbol":"STAG2","name":"STAG2 cohesin complex component","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"31334757[PMID]","hgnc":"11355","ensembl":"ENSG00000101972","omim":"300826","loci":["Xq25"]},{"symbol":"CDON","name":"cell adhesion associated, oncogene regulated","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"17104","ensembl":"ENSG00000064309","omim":"608707","loci":["11q24.2"]},{"symbol":"CRIPTO","name":"cripto, EGF-CFC family member","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"11701","ensembl":"ENSG00000241186","omim":"187395","loci":["3p21.31"]},{"symbol":"DISP1","name":"dispatched RND transporter family member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"19711","ensembl":"ENSG00000154309","omim":"607502","loci":["1q41"]},{"symbol":"DLL1","name":"delta like canonical Notch ligand 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2908","ensembl":"ENSG00000198719","omim":"606582","loci":["6q27"]},{"symbol":"FGF8","name":"fibroblast growth factor 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3686","ensembl":"ENSG00000107831","omim":"600483","loci":["10q24.32"]},{"symbol":"FGFR1","name":"fibroblast growth factor receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27363716[PMID]","hgnc":"3688","ensembl":"ENSG00000077782","omim":"136350","loci":["8p11.23"]},{"symbol":"FOXH1","name":"forkhead box H1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3814","ensembl":"ENSG00000160973","omim":"603621","loci":["8q24.3"]},{"symbol":"GAS1","name":"growth arrest specific 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"4165","ensembl":"ENSG00000180447","omim":"139185","loci":["9q21.33"]},{"symbol":"GLI2","name":"GLI family zinc finger 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"4318","ensembl":"ENSG00000074047","omim":"165230","loci":["2q14.2"]},{"symbol":"NODAL","name":"nodal growth differentiation factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"7865","ensembl":"ENSG00000156574","omim":"601265","loci":["10q22.1"]},{"symbol":"PTCH1","name":"patched 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9585","ensembl":"ENSG00000185920","omim":"601309","loci":["9q22.32"]},{"symbol":"SHH","name":"sonic hedgehog signaling molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"10848","ensembl":"ENSG00000164690","omim":"600725","loci":["7q36.3"]},{"symbol":"SIX3","name":"SIX homeobox 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"10889","ensembl":"ENSG00000138083","omim":"603714","loci":["2p21"]},{"symbol":"STIL","name":"STIL centriolar assembly protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29785796[PMID]","hgnc":"10879","ensembl":"ENSG00000123473","omim":"181590","loci":["1p33"]},{"symbol":"TGIF1","name":"TGFB induced factor homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"11776","ensembl":"ENSG00000177426","omim":"602630","loci":["18p11.31"]},{"symbol":"ZIC2","name":"Zic family zinc finger 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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