{"orpha":684240,"name":"Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["KABAMAS","Kaya-Barakat-Masson syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-684240/","orphanet_url":"https://www.orpha.net/en/disease/detail/684240","names":{"fr":{"name":"Syndrome de trouble neurodéveloppemental-spasticité-mouvements anormaux-épilepsie","synonyms":["KABAMAS","Syndrome de Kaya-Barakat-Masson","Syndrome de trouble du neurodéveloppement-pasticité-mouvements anormaux-épilepsie"]},"de":{"name":"Neurologische Entwicklungsstörung-Spastik-Bewegungsstörung-Epilepsie-Syndrom","synonyms":["KABAMAS","Kaya-Barakat-Masson-Syndrom"]},"es":{"name":"Trastorno del neurodesarrollo-espasticidad-trastorno del movimiento-síndrome epiléptico","synonyms":["KABAMAS","Síndrome de Kaya-Barakat-Masson"]},"it":{"name":"Malattia del neurosviluppo-spasticità-disturbi del movimento-sindrome epilettica","synonyms":["KABAMAS","Sindrome di Kaya-Barakat-Masson"]},"nl":{"name":"Neurologische ontwikkelingsstoornis - spasticiteit - bewegingsstoornis - epilepsie-syndroom","synonyms":["KABAMAS","Syndroom van Kaya-Barakat-Masson"]},"pt":{"name":"Doença do neurodesenvolvimento-espasticidade-doença do movimento-síndrome epilético","synonyms":["KABAMAS","Síndrome Kaya-Barakat-Masson"]},"pl":{"name":"Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome","synonyms":["KABAMAS","Kaya-Barakat-Masson syndrome"]},"cs":{"name":"Syndrom zahrnující neurovývojovou poruchu, spasticitu, pohybovou poruchu a epilepsii","synonyms":["KABAMAS","Kaya-Barakat-Masson syndrome"]}},"xrefs":[{"source":"OMIM","code":"619125","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"30878","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":496916,"name":"Rare genetic hyperkinetic movement disorder","classifications":[156]},{"orpha":494457,"name":"Rare hyperkinetic movement disorder","classifications":[181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":269528,"name":"Syndrome with microcephaly as a major feature","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"YIF1B","name":"Yip1 interacting factor homolog B, membrane trafficking protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"32006098[PMID]","hgnc":"30511","ensembl":"ENSG00000167645","omim":"619109","loci":["19q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":24.0,"area":"Worldwide","status":"Validated","source":"32006098[PMID]_33103737[PMID]_34373908[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"32006098[PMID]_33103737[PMID]_34373908[PMID]_ORPHANET"}],"phenotypes":null}