{"orpha":689408,"name":"Shashi-Pena syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-689408/","orphanet_url":"https://www.orpha.net/en/disease/detail/689408","names":{"fr":{"name":"Syndrome de Shashi-Pena"},"de":{"name":"Shashi-Pena-Syndrom","synonyms":["ASXL2-assoziierte neurologische Entwicklungsstörung","SHAPNS"]},"es":{"name":"Síndrome de Shashi-Pena"},"it":{"name":"Sindrome di Shashi-Pena"},"nl":{"name":"Syndroom van Shashi-Pena"},"pt":{"name":"Síndrome Shashi-Pena"},"pl":{"name":"Zespół Shashi-Pena"},"cs":{"name":"Syndrom Shashi-Penaové","synonyms":["Syndrom Shashiové-Penaové"]}},"xrefs":[{"source":"OMIM","code":"617190","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"MONDO","code":"14963","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":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"ASXL2","name":"ASXL transcriptional regulator 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27693232[PMID]","hgnc":"23805","ensembl":"ENSG00000143970","omim":"612991","loci":["2p23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":24.0,"area":"Worldwide","status":"Validated","source":"39527683[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"39527683[PMID]_ORPHANET"}],"phenotypes":null}