{"orpha":391348,"name":"Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additonal features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-391348/","orphanet_url":"https://www.orpha.net/en/disease/detail/391348","names":{"fr":{"name":"Syndrome de retard de croissance et de développement-hypotonie-troubles visuels-acidose lactique","definition":"Anomalie de la phosphorylation oxydative mitochondriale génétique rare caractérisée par un retard de croissance intra-utérin, une microcéphalie, une hypotonie, des troubles de la vision, un retard de la parole et du langage et une acidose lactique avec une activité réduite de la chaîne respiratoire (généralement le complexe I). Les autres caractéristiques peuvent inclure une anémie macrocytaire, des tremblements, une atrophie musculaire, une dysmétrie et une déficience intellectuelle légère."},"de":{"name":"Wachstums- und Entwicklungsverzögerung-Hypotonie-Sehbeeinträchtigung-Laktatazidose-Syndrom"},"es":{"name":"Síndrome de retraso del crecimiento y el desarrollo-hipotonía-trastorno ocular-acidosis láctica","definition":"Es un síndrome caracterizado por retraso del crecimiento intrauterino, microcefalia, hipotonía, discapacidad visual, retraso del habla y del lenguaje y acidosis láctica con actividad reducida de la cadena respiratoria (generalmente del complejo I). Otras características adicionales pueden incluir anemia macrocítica, temblor, atrofia muscular, dismetría y leve discapacidad intelectual."},"it":{"name":"Sindrome da ritardo della crescita e dello sviluppo, ipotonia, compromissione della vista, acidosi lattica","definition":"La sindrome che associa il ritardo della crescita e dello sviluppo, l'ipotonia, la compromissione della vista e l'acidosi lattica è una malattia genetica rara della fosforilazione ossidativa mitocondriale, caratterizzata da ritardo della crescita prenatale, microcefalia, ipotonia, compromissione della vista, ritardo del linguaggio ed acidosi lattica con riduzione dell'attività della catena respiratoria (di solito del complesso I). Altri segni clinici sono l'anemia macrocitica, il tremore, l'atrofia muscolare, la dismetria e la lieve disabilità intellettiva."},"nl":{"name":"Groei- en ontwikkelingsachterstand - hypotonie - visuele beperking - lactaatacidose-syndroom","definition":"Groei- en ontwikkelingsachterstand - hypotonie - visuele beperking - lactaatacidose-syndroom is een zeldzame, genetische, mitochondriale oxidatieve fosforylatiestoornis die gekarakteriseerd wordt door intra-uteriene groeiretardatie, microcefalie, hypotonie, visuele stoornis, spraak- en taalachterstand, en lactaatacidose met verminderde activiteit van de ademhalingsketen (doorgaans complex I). Mogelijke bijkomende kenmerken zijn onder meer macrocytaire anemie, tremor, musculaire atrofie, dysmetrie en milde intellectuele achterstand."},"pt":{"name":"Síndrome de perturbação do desenvolvimento e atraso de crescimento-hipotonia-incapacidade visual-acidose láctica"},"pl":{"name":"Zespół opóźnienie wzrostu i rozwoju-hipotonia-upośledzenie wzroku-kwasica mleczanowa","definition":"*Zespół opóźnienie wzrostu i rozwoju-hipotonia-upośledzenie wzroku-kwasica mleczanowa jest rzadkim, genetycznie uwarunkowanym zaburzeniem mitochondrialnej fosforylacji oksydacyjnej, które charakteryzuje się opóźnieniem wzrastania wewnątrzmacicznego, małogłowiem, hipotonią, zaburzeniami widzenia, opóźnieniem mowy oraz kwasicą mleczanową z obniżoną aktywnością enzymów łańcucha oddechowego (zazwyczaj kompleksu I). Objawy dodatkowe mogą obejmować niedokrwistość makrocytarną, drżenie, zanik mięśni, dysmetrię i łagodną niepełnosprawność intelektualną."},"cs":{"name":"Syndrom zahrnující opoždění růstu a vývoje, hypotonii, poruchu zraku a laktátovou acidózu"},"uk":{"name":"Синдром затримки росту і розвитку-гіпотонії-порушення зору- молочнокислого ацидозу","definition":"A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additonal features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability."},"zh":{"name":"生长发育迟缓-低张力-视力损害-乳酸酸中毒综合征","definition":"生长发育迟缓-张力减低-视力缺损-乳酸酸中毒综合征是一种罕见的遗传性线粒体氧化磷酸化障碍，其特征是胎儿宫内发育迟缓、小头畸形、肌张力低、视力障碍、言语和语言迟缓以及伴有呼吸链(典型的复合体I)活性降低的乳酸酸中毒。本病的其他特征可能包括大细胞性贫血、震颤、肌肉萎缩、心律失常和轻度智力障碍。"},"tr":{"name":"Büyüme ve gelişme geriliği-hipotoni-görme bozukluğu-laktik asidoz sendromu"}},"xrefs":[{"source":"OMIM","code":"615578","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.2Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014261","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751596","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":254822,"name":"Mitochondrial oxidative phosphorylation disorder with no known mechanism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SFXN4","name":"sideroflexin 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24119684[PMID]","hgnc":"16088","ensembl":"ENSG00000183605","omim":"615564","loci":["10q26.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"24119684[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}