{"orpha":329195,"name":"Developmental delay with autism spectrum disorder and gait instability","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Developmental delay with ASD and gait instability"],"definition":"Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-329195/","orphanet_url":"https://www.orpha.net/en/disease/detail/329195","names":{"fr":{"name":"Retard de développement avec trouble du spectre de l'autisme et démarche instable","definition":"Une maladie génétique neurologique rare, caractérisée par une hypotonie infantile et des difficultés pour s'alimenter, un retard du développement global, un déficit intellectuel léger à modéré, une acquisition retardée de la marche indépendante, un élargissement du polygone de sustentation avec les bras fléchis au niveau du coude, et une marche ou une course brusques, ainsi que des compétences langagières limitées. Le comportement est très variable, allant d'un comportement sociable et affectionné à un comportement autistique."},"de":{"name":"Entwicklungsverzögerung mit Autismus-Spektrum-Störung und Gang-Instabilität","definition":"Entwicklungsverzögerung mit Autismus-Spektrum-Störung (ASS) und Ganginstabilität ist eine seltene, genetisch bedingte, neurologische Störung, die durch Hypotonie des Säuglings und Fütterungsschwierigkeiten, eine globale Entwicklungsverzögerung, eine leichte bis mittlere intellektuelle Entwicklungsstörung, verzögertes selbständiges Gehen, einen breitbeinigen Gang mit hochgehaltenen und im Ellbogen gebeugten Armen und zügiges Gehen oder Laufen sowie begrenzte Sprachkenntnisse gekennzeichnet ist. Die Verhaltensmuster sind sehr unterschiedlich und reichen von geselligem und anhänglichem bis hin zu autistischem Verhalten."},"es":{"name":"Retraso del desarrollo con trastorno del espectro autista e inestabilidad en la marcha","synonyms":["Retraso del desarrollo con TEA e inestabilidad en la marcha"],"definition":"Es un trastorno neurológico genético poco frecuente caracterizado por hipotonía infantil y dificultades en la alimentación, retraso global del desarrollo, discapacidad intelectual de leve a moderada, retraso de la deambulación independiente, marcha de base amplia con los brazos elevados y en semi-flexión del codo al caminar o correr enérgicamente, además de capacidades limitidas del lenguaje. Los patrones conductuales son muy variables y van desde un comportamiento sociable y afectivo hasta el autista."},"it":{"name":"Ritardo dello sviluppo con disturbo dello spettro autistico e andatura instabile","synonyms":["Ritardo dello sviluppo con ASD e andatura instabile"],"definition":"Il ritardo dello sviluppo con disturbo dello spettro autistico e andatura instabile è una malattia neurologica genetica rara, caratterizzata da ipotonia neonatale e difficoltà dell'alimentazione, ritardo dello sviluppo globale, disabilità intellettiva lieve-moderata, ritardo della deambulazione autonoma, andatura a base allargata, con le braccia sollevate e flesse all'altezza dei gomiti, camminata o corsa accelerata e competenze linguistiche limitate. I pazienti presentano un'ampia gamma di comportamenti, da quelli socievoli e affettuosi ai tratti autistici."},"nl":{"name":"Ontwikkelingsachterstand met autismespectrumstoornis en ganginstabiliteit","synonyms":["Ontwikkelingsachterstand met ASS en ganginstabiliteit"],"definition":"Ontwikkelingsachterstand met autismespectrumstoornis en ganginstabiliteit is een zeldzame, genetische, neurologische stoornis die gekarakteriseerd wordt door infantiele hypotonie en voedingsproblemen, algehele ontwikkelingsachterstand, milde tot matige intellectuele achterstand, uitgesteld vermogen tot zelfstandig stappen, een gang met brede basis en opgeheven armen gebogen ter hoogte van de elleboog, energiek stappen of lopen, en beperkte taalvaardigheden. Gedragspatronen zijn zeer variabel, gaande van sociaal en hartelijk gedrag tot autistisch gedrag."},"pt":{"name":"Perturbação do desenvolvimento com perturbação do espectro autista e instabilidade da marcha"},"pl":{"name":"Opóźnienie rozwoju z zaburzeniem ze spektrum autyzmu i niestabilnością chodu","synonyms":["Opóźnienie rozwoju z ASD i niestabilnością chodu"],"definition":"*Opóźnienie rozwoju z zaburzeniem ze spektrum autyzmu i niestabilnością chodu jest rzadkim, genetycznie uwarunkowanym schorzeniem neurologicznym, w którym obserwuje się obniżenie napięcia mięśniowego u niemowląt, trudności w karmieniu, całościowe opóźnienie rozwoju, łagodną do umiarkowanej niepełnosprawność intelektualną, opóźniony samodzielny chód, chód na szerokiej podstawie z uniesionymi i zgiętymi w łokciach kończynami górnymi, energiczny/żwawy chód lub bieganie oraz ograniczone umiejętności językowe. Wzorce zachowań są bardzo zmienne, od czułych i towarzyskich, po autystyczne."},"cs":{"name":"Opoždění vývoje s poruchou autistického spektra a nestabilní chůzí","synonyms":["Opoždění vývoje s ASD a nestabilní chůzí"]},"uk":{"name":"Затримка розвитку з розладом аутистичного спектру та нестійкістю ходи","synonyms":["Затримка розвитку при РАС та нестабільність ходи"],"definition":"Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior."},"zh":{"name":"发育迟缓伴自闭症谱系障碍和步态不稳定","synonyms":["发育迟缓伴ASD和步态不稳"],"definition":"发育迟缓伴自闭症谱系障碍和步态不稳是一种罕见的遗传性神经疾病，其特征是婴儿张力减退和进食困难、整体发育迟缓、轻度至中度智力障碍、独立行走迟缓，宽基步态，手臂伸直，肘部弯曲，快走或快跑，语言能力有限。行为模式高度可变，从社交和情感到自闭症行为均可出现。"},"tr":{"name":"Otizm spektrum bozukluğu ve yürüme istikrarsızlığı ile seyreden gelişme geriliği","synonyms":["ASD ve yürüme dengesizliği ile seyreden gelişme geriliği"]}},"xrefs":[{"source":"OMIM","code":"615516","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"F84.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"MONDO","code":"0014224","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749505","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":180772,"name":"Rare disease with autism","classifications":[156,181]}],"children":[],"genes":[{"symbol":"HERC2","name":"HECT and RLD domain containing E3 ubiquitin protein ligase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23065719[PMID]_23243086[PMID]","hgnc":"4868","ensembl":"ENSG00000128731","omim":"605837","loci":["15q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":22.0,"area":"Worldwide","status":"Validated","source":"23065719[PMID]_23243086[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}