{"orpha":615983,"name":"Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-615983/","orphanet_url":"https://www.orpha.net/en/disease/detail/615983","names":{"fr":{"name":"Syndrome létal d'hypoplasie pontocérébelleuse-hypotonie-insuffisance respiratoire dû à une mutation ponctuelle"},"de":{"name":"Syndrom der letalen pontozerebellären Hypoplasie mit Hypotonie und respiratorischer Insuffizienz durch Punktmutation"},"es":{"name":"Síndrome letal de hipoplasia pontocerebelosa-hipotonía-insuficiencia respiratoria por una mutación puntual"},"it":{"name":"Sindrome letale da ipoplasia pontocerebellare, ipotonia e insufficienza respiratoria causata da una mutazione puntiforme"},"nl":{"name":"Letaal pontocerebellaire hypoplasie - hypotonie - respiratoire insufficiëntie-syndroom door een puntmutatie"},"pt":{"name":"Síndrome letal de hipoplasia pontocerebelosa-hipotonia-insuficiência respiratória por mutação pontual"},"pl":{"name":"Zespół letalna hipoplazja mostowo-móżdżkowa-hipotonia-niewydolność oddechowa wskutek mutacji punktowej"},"cs":{"name":"Syndrom zahrnující letální pontocerebelární hypoplázii, hypotonii a respirační insuficienci způsobený bodovou mutací"},"uk":{"name":"Летальний синдром понтоцеребелярної гіпоплазії-гіпотонії-дихальної недостатності, зумовлений точковою мутацією"}},"xrefs":[{"source":"OMIM","code":"618810","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0036217","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681819","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":615954,"name":"Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"ATAD3A","name":"ATPase family AAA domain containing 3A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28549128[PMID]","hgnc":"25567","ensembl":"ENSG00000197785","omim":"612316","loci":["1p36.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}