{"orpha":583612,"name":"Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["3-phosphoserine phosphatase deficiency, prenatal form"],"definition":null,"note":"This disease is described under Neu-Laxova syndrome","url":"https://raremap.alftech.space/d/ORPHA-583612/","orphanet_url":"https://www.orpha.net/en/disease/detail/583612","names":{"fr":{"name":"Syndrome de Neu-Laxova par déficit en 3-phosphosérine phosphatase","synonyms":["Déficit en 3-phosphosérine phosphatase, forme prénatale"]},"de":{"name":"Neu-Laxova-Syndrom durch 3-Phosphoserin-Phosphatase-Mangel","synonyms":["3-Phosphoserin-Phosphatase-Defizienz, pränatale Form"]},"es":{"name":"Síndrome de Neu-Laxova por deficiencia de 3-fosfoserina fosfatasa","synonyms":["Deficiencia de 3-fosfoserina fosfatasa, forma prenatal"]},"it":{"name":"Sindrome di Neu-Laxova da deficit di 3-fosfoserina fosfatasi","synonyms":["Deficit di 3-fosfoserina fosfatasi, forma prenatale"]},"nl":{"name":"Syndroom van Neu-laxova door deficiëntie van 3-fosfoserinefosfatase","synonyms":["Deficiëntie van 3-fosfoserinefosfatase, prenatale vorm"]},"pt":{"name":"Síndrome Neu-Laxova por deficiência de 3-fosfoserina fosfatase","synonyms":["Deficiência de 3-fosfoserina fosfatase, forma pré-natal"]},"pl":{"name":"Zespół Neu'a i Laxovy z powodu deficytu fosfatazy 3-fosfoseryny","synonyms":["Zespół Neu i Laxova spowodowany niedoborem fosfatazy 3-fosfoserynowej"]},"cs":{"name":"Syndrom Neu-Laxové způsobený deficitem 3-fosfoserinfosfatázy","synonyms":["3-phosphoserine phosphatase deficiency, prenatal form"]},"uk":{"name":"Синдром Ноя-Лаксова, зумовлений дефіцитом 3-фосфосеринфосфатази","synonyms":["Дефіцит 3-фосфосеринфосфатази, пренатальна форма"]},"zh":{"name":"3-磷酸丝氨酸磷酸酶缺乏所致Neu-laxova综合征","synonyms":["产前型3-磷酸丝氨酸磷酸酶缺乏症"]},"tr":{"name":"3-fosfoserin fosfataz eksikliğine bağlı Neu-laxova","synonyms":["3-fosfoserin fosfataz eksikliği, doğum öncesi formu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.1","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0035930","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680338","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":2671,"name":"Neu-Laxova syndrome","classifications":[147,150,156,181,187,189]}],"children":[],"genes":[{"symbol":"PSPH","name":"phosphoserine phosphatase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25152457[PMID]","hgnc":"9577","ensembl":"ENSG00000146733","omim":"172480","loci":["7p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}