{"orpha":615986,"name":"Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Lethal 1p36.33 deletion syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-615986/","orphanet_url":"https://www.orpha.net/en/disease/detail/615986","names":{"fr":{"name":"Syndrome létal d'hypoplasie pontocérébelleuse-hypotonie-insuffisance respiratoire dû à des délétions bialléliques dans le cluster de gènes ATAD3","synonyms":["Syndrome de délétion 1p36.33 létal"]},"de":{"name":"Fatale pontozerebelläre Hypoplasie-Hypotonie-Atemwegsinsuffizienz-Syndrom durch biallelischen Deletionen im ATAD3-Gencluster","synonyms":["1p36.33-Deletionssyndrom, letal"]},"es":{"name":"Síndrome letal de hipoplasia pontocerebelosa-hipotonía-insuficiencia respiratoria por deleciones bialélicas en el grupo de genes ATAD3","synonyms":["Síndrome letal de deleción 1p36.33"]},"it":{"name":"Sindrome letale da ipoplasia pontocerebellare, ipotonia e insufficienza respiratoria causata da delezioni bialleliche nel cluster del gene ATAD3","synonyms":["Sindrome letale da delezione 1p36.33"]},"nl":{"name":"Letaal pontocerebellaire hypoplasie - hypotonie - respiratoire insufficiëntie-syndroom door biallelische deleties in ATAD3-gencluster","synonyms":["Letaal 1p36.33-deletiesyndroom"]},"pt":{"name":"Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster"},"pl":{"name":"Zespół letalna hipoplazja mostowo-móżdżkowa-hipotonia-niewydolność oddechowa wskutek obuallelicznych delecji w klastrze genu ATAD3","synonyms":["Lethal 1p36.33 deletion syndrome"]},"cs":{"name":"Syndrom zahrnující letální pontocerebelární hypoplázii, hypotonii a respirační insuficienci způsobený bialelickými delecemi v genovém klastru ATAD3","synonyms":["Lethal 1p36.33 deletion syndrome"]},"uk":{"name":"Летальний синдром понтоцеребелярної гіпоплазії-гіпотонії-дихальної недостатності, зумовлений біалельними делеціями у кластері генів ATAD3","synonyms":["Летальний синдром делеції 1p36.33"]}},"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":"0036218","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680385","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]},{"orpha":261857,"name":"Partial deletion of the short arm of chromosome 1 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"ATAD3A","name":"ATPase family AAA domain containing 3A","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"27640307[PMID]","hgnc":"25567","ensembl":"ENSG00000197785","omim":"612316","loci":["1p36.33"]}],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}