{"orpha":717846,"name":"Developmental delay-facial dysmorphism-Blaschko lines hypopigmentation-obesity-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["TFE3-related neurodevelopmental disorder"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-717846/","orphanet_url":"https://www.orpha.net/en/disease/detail/717846","names":{"fr":{"name":"Syndrome de retard du développement-dysmorphie faciale-hypopigmentation des lignes de Blaschko-obésité-déficience intellectuelle","synonyms":["Trouble du neurodéveloppement associé à TFE3"]},"de":{"name":"Entwicklungsverzögerung-Gesichtsdysmorphie-Blaschko-Linien-Hypopigmentierung-Adipositas-Intelligenzminderung-Syndrom","synonyms":["TFE3-assoziierte neurologische Entwicklungsstörung","X-chromosomale syndromale intellektuelle Entwicklungsstörung mit Pigmentmosaik und groben Gesichtszügen","MRXSPF"]},"es":{"name":"Síndrome de retraso del desarrollo-dismorfia facial-hipopigmentación a lo largo de las líneas de Blaschko-obesidad-discapacidad intelectual","synonyms":["Trastorno del neurodesarrollo asociado a TFE3"]},"it":{"name":"Sindrome ritardo dello sviluppo-dismorfismi facciali-ipopigmentazione delle linee di Blaschko-obesità-disabilità intellettiva","synonyms":["Malattia del neurosviluppo correlata a TFE3"]},"nl":{"name":"Ontwikkelingsachterstand - faciale dysmorfie - hypopigmentatie van lijnen van Blaschko - obesitas - intellectuele achterstand-syndroom","synonyms":["TFE3-gerelateerde neurologische ontwikkelingsstoornis"]},"pt":{"name":"Developmental delay-facial dysmorphism-Blaschko lines hypopigmentation-obesity-intellectual disability syndrome"},"pl":{"name":"Developmental delay-facial dysmorphism-Blaschko lines hypopigmentation-obesity-intellectual disability syndrome","synonyms":["TFE3-related neurodevelopmental disorder"]},"cs":{"name":"Developmental delay-facial dysmorphism-Blaschko lines hypopigmentation-obesity-intellectual disability syndrome","synonyms":["TFE3-related neurodevelopmental disorder"]}},"xrefs":[{"source":"OMIM","code":"301066","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183469,"name":"Genetic hypopigmentation of the skin","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":79376,"name":"Hypopigmentation of the skin","classifications":[187]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"TFE3","name":"transcription factor binding to IGHM enhancer 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30595499[PMID]_31833172[PMID]","hgnc":"11752","ensembl":"ENSG00000068323","omim":"314310","loci":["Xp11.23"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":[],"prevalence":[],"phenotypes":null}