{"orpha":730327,"name":"Global developmental delay-microcephaly-ataxia-perpipheral demyelinating neuropathy-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["NARS1-related neurodevelopmental disorder"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-730327/","orphanet_url":"https://www.orpha.net/en/disease/detail/730327","names":{"fr":{"name":"Syndrome de retard global de développement-microcéphalie-ataxie-neuropathie périphérique démyélinisante-déficience intellectuelle","synonyms":["Trouble du neurodéveloppement associé à NARS1"]},"de":{"name":"Globale Entwicklungsverzögerung-Mikrozephalie-Ataxie-periphere demyelinisierende Neuropathie-Intelligenzminderung-Syndrom","synonyms":["NARS1-assoziierte neurologische Entwicklungsstörung"]},"es":{"name":"Síndrome de retraso global del desarrollo-microcefalia-ataxia-neuropatía desmielinizante periférica-discapacidad intelectual","synonyms":["Trastorno del neurodesarrollo asociado a NARS1"]},"it":{"name":"Sindrome ritardo dello sviluppo globale-microcefalia-atassia-neuropatia periferica demielinizzante -disabilità intellettiva","synonyms":["Malattia del neurosviluppo correlata a NARS1"]},"nl":{"name":"Algehele ontwikkelingsachterstand - microcefalie - ataxie - perifere demyeliniserende neuropathie - intellectuele achterstand-syndroom","synonyms":["NARS1-gerelateerde neurologische ontwikkelingsstoornis"]},"pt":{"name":"Global developmental delay-microcephaly-ataxia-perpipheral dimyelinating neuropathy-intellectual disability syndrome"},"pl":{"name":"Global developmental delay-microcephaly-ataxia-perpipheral demyelinating neuropathy-intellectual disability syndrome","synonyms":["NARS1-related neurodevelopmental disorder"]},"cs":{"name":"Global developmental delay-microcephaly-ataxia-perpipheral demyelinating neuropathy-intellectual disability syndrome","synonyms":["NARS1-related neurodevelopmental disorder"]}},"xrefs":[{"source":"OMIM","code":"619091","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619092","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]}],"children":[],"genes":[{"symbol":"NARS1","name":"asparaginyl-tRNA synthetase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32738225[PMID]","hgnc":"7643","ensembl":null,"omim":null,"loci":["18q21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}