{"orpha":700160,"name":"ADNP-related blepharophimosis-intellectual disability syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-700160/","orphanet_url":"https://www.orpha.net/en/disease/detail/700160","names":{"fr":{"name":"Syndrome de blépharophimosis-déficience intellectuelle associé à ADNP"},"de":{"name":"Blepharophimose-Intelligenzminderung-Syndrom, ADNP-assoziiertes"},"es":{"name":"Síndrome de blefarofimosis-discapacidad intelectual asociado a ADNP"},"it":{"name":"Sindrome blefarofimosi-disabilità intellettiva correlata ad ADNP"},"nl":{"name":"ADNP-gerelateerd blefarofimose - intellectuele achterstand-syndroom"},"pt":{"name":"ADNP-related blepharophimosis-intellectual disability syndrome"},"pl":{"name":"ADNP-related blepharophimosis-intellectual disability syndrome"},"cs":{"name":"ADNP-related blepharophimosis-intellectual disability syndrome"}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":293642,"name":"Blepharophimosis-intellectual disability syndrome","classifications":[147,156,181,189]}],"children":[],"genes":[{"symbol":"ADNP","name":"activity dependent neuroprotector homeobox","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"38884529[PMID]","hgnc":"15766","ensembl":"ENSG00000101126","omim":"611386","loci":["20q13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"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}