{"orpha":717854,"name":"Developmental delay-microcephaly-short stature-ocular disorders-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["TEBIVANED syndrome","Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-717854/","orphanet_url":"https://www.orpha.net/en/disease/detail/717854","names":{"fr":{"name":"Syndrome de retard du développement-microcéphalie-troubles oculaires-déficience intellectuelle","synonyms":["Syndrome TEBIVANED","Syndrome neurodéveloppemental Tessadori-Bicknell-Van Haaften"]},"de":{"name":"Entwicklungsverzögerung-Mikrozephalie-Kleinwuchs-Augenerkrankungen-Intelligenzminderung-Syndrom","synonyms":["TEBIVANED-Syndrom","Neurologische Entwicklungsstörung vom Typ Tessadori-Bicknell-Van Haaften"]},"es":{"name":"Síndrome de retraso del desarrollo-microcefalia-talla baja-trastornos oculares-discapacidad intelectual","synonyms":["Síndrome TEBIVANED","Síndrome del neurodesarrollo de Tessadori-Bicknell-Van Haaften"]},"it":{"name":"Sindrome ritardo dello sviluppo-microcefalia-bassa statura-disturbi oculari-disabilità intellettiva","synonyms":["Sindrome TEBIVANED","Malattia del neurosviluppo di Tessadori-Bicknell-Van Haaften"]},"nl":{"name":"Ontwikkelingsachterstand - microcefalie - kleine gestalte - oogaandoeningen - intellectuele achterstand-syndroom","synonyms":["TEBIVANED-syndroom","Neurologisch ontwikkelingssyndroom van Tessadori-Bicknell-Van Haaften"]},"pt":{"name":"Developmental delay-microcephaly-short stature-ocular disorders-intellectual disability syndrome"},"pl":{"name":"Developmental delay-microcephaly-short stature-ocular disorders-intellectual disability syndrome","synonyms":["TEBIVANED syndrome","Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome"]},"cs":{"name":"Developmental delay-microcephaly-short stature-ocular disorders-intellectual disability syndrome","synonyms":["TEBIVANED syndrome","Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome"]}},"xrefs":[{"source":"OMIM","code":"619758","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619759","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619950","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619951","qualifier":"BTNT","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":269528,"name":"Syndrome with microcephaly as a major feature","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"H4C3","name":"H4 clustered histone 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35202563[PMID]","hgnc":"4787","ensembl":"ENSG00000197061","omim":"602827","loci":["6p22.2"]},{"symbol":"H4C5","name":"H4 clustered histone 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35202563[PMID]","hgnc":"4790","ensembl":"ENSG00000276966","omim":"602830","loci":["6p22.2"]},{"symbol":"H4C9","name":"H4 clustered histone 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35202563[PMID]","hgnc":"4793","ensembl":"ENSG00000276180","omim":"602833","loci":["6p22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}