{"orpha":695611,"name":"3q27.1 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(3)(q27.1)","Monosomy 3q27.1 syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-695611/","orphanet_url":"https://www.orpha.net/en/disease/detail/695611","names":{"fr":{"name":"Syndrome de microdélétion 3q27.1","synonyms":["Del(3)(q27.1)","Syndrome de monosomie 3q27.1"]},"de":{"name":"Mikrodeletionssyndrom 3q27.1","synonyms":["Del(3)(q27.1)","Monosomie 3q27.1"]},"es":{"name":"Síndrome de microdeleción 3q27.1","synonyms":["Del(3)(q27.1)","Síndrome de monosomía 3q27.1"]},"it":{"name":"Sindrome da microdelezione 3q27.1","synonyms":["Del(3)(q27.1)","Sindrome da monosomia 3q27.1","Monosomia 3q26q28","Del(3)(q26q28)"]},"nl":{"name":"3q27.1-microdeletiesyndroom","synonyms":["Del(3)(q27.1)","Monosomie 3q27.1-syndroom"]},"pt":{"name":"3q26q28 microdeletion syndrome"},"pl":{"name":"3q27.1 microdeletion syndrome","synonyms":["Del(3)(q27.1)","Monosomy 3q27.1 syndrome"]},"cs":{"name":"3q27.1 microdeletion syndrome","synonyms":["Del(3)(q27.1)","Monosomy 3q27.1 syndrome"]}},"xrefs":[],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":356947,"name":"3q26q27 microdeletion syndrome","status":"inactive"}],"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]},{"orpha":262019,"name":"Partial deletion of the long arm of chromosome 3 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"35241116[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"35241116[PMID]_ORPHANET"}],"phenotypes":null}