{"orpha":694956,"name":"Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-694956/","orphanet_url":"https://www.orpha.net/en/disease/detail/694956","names":{"fr":{"name":"Syndrome de déficience intellectuelle-hypertrophie lymphoïde-macrocéphalie"},"de":{"name":"Intelligenzminderung-Lymphoidhypertrophie-Makrozephalie-Syndrom","synonyms":["MNDLFH","Makrozephalie mit neurologischer Entwicklungsverzögerung, lymphoider Hyperplasie und persistierendem fetalen Hämoglobin"]},"es":{"name":"Síndrome de discapacidad intelectual-hipertrofia linfoide-macrocefalia"},"it":{"name":"Sindrome disabilità intellettiva-ipertrofia linfoide-macrocefalia"},"nl":{"name":"Intellectuele achterstand - lymfoïde hypertrofie - macrocefalie-syndroom"},"pt":{"name":"Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome"},"pl":{"name":"Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome"},"cs":{"name":"Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome"}},"xrefs":[{"source":"OMIM","code":"619769","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":728642,"name":"Genetic syndrome or malformation associated with head and neck malformations","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":156237,"name":"Syndrome or malformation associated with head and neck malformations","classifications":[147,200,209]}],"children":[],"genes":[{"symbol":"ZBTB7A","name":"zinc finger and BTB domain containing 7A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34515416[PMID]","hgnc":"18078","ensembl":"ENSG00000178951","omim":"605878","loci":["19p13.3"]}],"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":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}