{"orpha":600663,"name":"NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability and absence of expressive language. Muscular hypotonia, seizures, autistic behavior and stereotypic movements are common.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-600663/","orphanet_url":"https://www.orpha.net/en/disease/detail/600663","names":{"fr":{"name":"Syndrome de trouble neurodéveloppemental sévère-stéréotypies motrices-constipation chronique-trouble du rythme veille-sommeil associé à NRXN1","definition":"Maladie neurodéveloppementale génétique rare caractérisée par un retard de développement global, une déficience intellectuelle sévère et l'absence de langage expressif. Une hypotonie musculaire, des crises convulsives, un comportement autistique et des stéréotypies motrices sont courants."},"de":{"name":"NRXN1-abhängige schwere neurologische Entwicklungsstörung-stereotype Bewegungsstörung-chronische Obstipation-Schlaf-Wach-Zyklus-Störung","definition":"Eine genetisch bedingte neurologische Entwicklungsstörung, die durch eine globale Entwicklungsverzögerung, eine schwere Intelligenzminderung und das Fehlen einer expressiven Sprache gekennzeichnet ist. Muskuläre Hypotonie, Krampfanfälle, autistisches Verhalten und stereotype Bewegungen sind häufig."},"es":{"name":"Trastorno del neurodesarrollo grave-estereotipias motoras-estreñimiento crónico-alteración del ciclo sueño-vigilia asociado al gen NRXN1","definition":"Es un trastorno genético poco frecuente del neurodesarrollo caracterizado por retraso global del desarrollo, discapacidad intelectual grave y ausencia de lenguaje expresivo. Son comunes la hipotonía muscular, las crisis, el comportamiento autista y los movimientos estereotipados."},"it":{"name":"Malattia grave del neurosviluppo correlata a NRXN1- stereotipie motorie-costipazione cronica-anomalie del ciclo sonno-veglia","definition":"Si tratta di una malattia genetica rara dello sviluppo neurologico, caratterizzata da ritardo dello sviluppo globale, disabilità intellettiva grave e assenza del linguaggio espressivo. Sono comuni l'ipotonia muscolare, le crisi epilettiche, i tratti autistici e i movimenti stereotipati."},"nl":{"name":"NRXN1-gerelateerd syndroom van ernstige neurologische ontwikkelingsstoornis - motorische stereotypie - chronische constipatie - stoornis van slaap-waakritme","definition":"Een zeldzame, genetische neurologische ontwikkelingsstoornis, gekenmerkt door algehele ontwikkelingsachterstand, ernstige intellectuele achterstand, en afwezigheid van expressieve taal. Spierhypotonie, insulten, autistisch gedrag en stereotiepe bewegingen zijn gangbaar."},"pt":{"name":"Perturbação do neurodesenvolvimento grave-estereotipias motoras-obstipação crónica-alteração do ciclo sono-vigília NRXN1-relacionada","definition":"Doença genética rara do neurodesenvolvimento, caracterizada por atraso global do desenvolvimento, perturbação grave do desenvolvimento intelectual e ausência de linguagem expressiva. Hipotonia muscular, convulsões, comportamentos do espectro autista e movimentos estereotipados são comuns."},"pl":{"name":"Poważne zaburzenia neurorozwojowe, stereotypie ruchowe, przewlekłe zaparcia, zaburzenia cyklu snu i czuwania związane z NRXN1"},"cs":{"name":"Těžká neurovývojová porucha související s NRXN1, motorické stereotypie, chronická zácpa a poruchy cyklu spánek-bdění"},"uk":{"name":"NRXN1-повязане тяжке порушення нейророзвитку-рухові стереотипи-хронічний запор- порушення циклу сну та неспання","definition":"A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability and absence of expressive language. Muscular hypotonia, seizures, autistic behavior and stereotypic movements are common."},"zh":{"name":"NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance"},"tr":{"name":"NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance"}},"xrefs":[{"source":"OMIM","code":"614325","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G96.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035774","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681528","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":168778,"name":"Rare pervasive developmental disorder","classifications":[156,181]},{"orpha":68354,"name":"Rare sleep disorder","classifications":[181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"NRXN1","name":"neurexin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25408897[PMID]","hgnc":"8008","ensembl":"ENSG00000179915","omim":"600565","loci":["2p16.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"30873608[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"30873608[PMID]_ORPHANET"}],"phenotypes":null}