{"orpha":730261,"name":"X-linked intellectual disability, Basilicata-Akhtar type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MSL3-related X-linked intellectual disability","MSL3-related neurodevelopmental disorder","Basilicata-Akhtar syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-730261/","orphanet_url":"https://www.orpha.net/en/disease/detail/730261","names":{"fr":{"name":"Déficience intellectuelle liée à l'X type Basilicata-Akhtar","synonyms":["Trouble du neurodéveloppement associé à MSL3","Syndrome Basilicata-Akhtar","Déficience intellectuelle liée à l'X associée à MSL3"]},"de":{"name":"X-chromosomale Intelligenzminderung Typ Basilicata-Akhtar","synonyms":["X-chromosomale Intelligenzminderung, MSL3-assoziierte","Basilicata-Akhtar-Syndrom","MSL3-assoziierte neurologische Entwicklungsstörung"]},"es":{"name":"Discapacidad intelectual ligada al cromosoma X, tipo Basilicata-Akhtar","synonyms":["Síndrome de Basilicata-Akhtar","Trastorno del neurodesarrollo asociado al gen MSL3","Discapacidad intelectual ligada al cromosoma X asociada al gen MSL3"]},"it":{"name":"Disabilità intellettiva legata all'X, tipo Basilicata-Akhtar","synonyms":["Disabilità intellettiva legata all'X correlata a MSL3","Malattia del neurosviluppo correlata a MSL3","Sindrome di Basilicata-Akhtar"]},"nl":{"name":"X-gebonden intellectuele achterstand, Basilicata-Akhtar-type","synonyms":["MSL3-gerelateerde intellectuele achterstand","MSL3-gerelateerde neurologische ontwikkelingsstoornis","Syndroom van Basilicata-Akhtar"]},"pt":{"name":"X-linked intellectual disability, Basilicata-Akhtar type"},"pl":{"name":"X-linked intellectual disability, Basilicata-Akhtar type","synonyms":["MSL3-related X-linked intellectual disability","MSL3-related neurodevelopmental disorder","Basilicata-Akhtar syndrome"]},"cs":{"name":"X-linked intellectual disability, Basilicata-Akhtar type","synonyms":["MSL3-related X-linked intellectual disability","MSL3-related neurodevelopmental disorder","Basilicata-Akhtar syndrome"]}},"xrefs":[{"source":"OMIM","code":"301032","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":"MSL3","name":"MSL complex subunit 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30224647[PMID]_33173220[PMID]","hgnc":"7370","ensembl":null,"omim":null,"loci":["Xp22.2"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":[],"prevalence":[],"phenotypes":null}