{"orpha":694937,"name":"Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-694937/","orphanet_url":"https://www.orpha.net/en/disease/detail/694937","names":{"fr":{"name":"Syndrome de déficience intellectuelle-neuropathie périphérique-anomalies du corps calleux par à un déficit en nudix hydrolase 2"},"de":{"name":"Intelligenzminderung-periphere Neuropathie-Corpus callosum-Anomalie-Syndrom durch Nudix-Hydrolase-2-Mangel","synonyms":["IDDPN","Intellektuelle Entwicklungsstörung mit oder ohne periphere Neuropathie"]},"es":{"name":"Síndrome de discapacidad intelectual-neuropatía periférica-anomalías del cuerpo calloso por deficiencia de nudix hidrolasa 2"},"it":{"name":"Sindrome disabilità intellettiva-neuropatia periferica-anomalie del corpo calloso da deficit di nudix idrolasi 2"},"nl":{"name":"Intellectuele achterstand - perifere neuropathie - afwijkingen van corpus callosum-syndroom door deficiëntie van nudix hydrolase 2"},"pt":{"name":"Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency"},"pl":{"name":"Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency"},"cs":{"name":"Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency"}},"xrefs":[{"source":"OMIM","code":"619844","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":269573,"name":"Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":207025,"name":"Rare hereditary neurologic disease with peripheral neuropathy","classifications":[156,181]},{"orpha":199639,"name":"Syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"NUDT2","name":"nudix hydrolase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"38141063[PMID]","hgnc":"8049","ensembl":"ENSG00000164978","omim":"602852","loci":["9p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":29.0,"area":"Worldwide","status":"Validated","source":"27431290[PMID]_30059600[PMID]_38141063[PMID]_38243213[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"27431290[PMID]_30059600[PMID]_38141063[PMID]_38243213[PMID]_ORPHANET"}],"phenotypes":null}