{"orpha":717795,"name":"Developmental delay-spastic diplegia-choreoathetosis-intellectual disability syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ELP2-related neurodevelopmental disorder"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-717795/","orphanet_url":"https://www.orpha.net/en/disease/detail/717795","names":{"fr":{"name":"Syndrome du retard de développement-diplégie spastique-choréoathétose-déficience intellectuelle","synonyms":["Trouble du neurodéveloppement associé à ELP2"]},"de":{"name":"Entwicklungsverzögerung-spastische Diplegie-Choreoathetose-Intelligenzminderung-Syndrom","synonyms":["ELP2-assoziierte neurologische Entwicklungsstörung"]},"es":{"name":"Síndrome de retraso del desarrollo-diplejía espástica-coreoatetosis-discapacidad intelectual","synonyms":["Trastorno del neurodesarrollo asociado a ELP2"]},"it":{"name":"Sindrome ritardo dello sviluppo-diplegia spastica-coreoatetosi-disabilità intellettiva","synonyms":["Malattia del neurosviluppo correlata a ELP2"]},"nl":{"name":"Ontwikkelingsachterstand - spastische diplegie - choreoathetose - intellectuele achterstand-syndroom","synonyms":["ELP2-gerelateerde neurologische ontwikkelingsstoornis"]},"pt":{"name":"Developmental delay-spastic diplegia-choreoathetosis-intellectual disability syndrome"},"pl":{"name":"Developmental delay-spastic diplegia-choreoathetosis-intellectual disability syndrome","synonyms":["ELP2-related neurodevelopmental disorder"]},"cs":{"name":"Developmental delay-spastic diplegia-choreoathetosis-intellectual disability syndrome","synonyms":["ELP2-related neurodevelopmental disorder"]}},"xrefs":[{"source":"OMIM","code":"617270","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ELP2","name":"elongator acetyltransferase complex subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25847581[PMID]_34653680[PMID]_33976153[PMID]","hgnc":"18248","ensembl":"ENSG00000134759","omim":"616054","loci":["18q12.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}