{"orpha":699599,"name":"ICHAD syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Immune dysregulation-craniofacial anomalies-hearing impairment-athelia-developmental delay syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-699599/","orphanet_url":"https://www.orpha.net/en/disease/detail/699599","names":{"fr":{"name":"Syndrome ICHAD","synonyms":["Syndrome de dérèglement immunitaire-anomalies craniofaciales-surdité-athélie-retard de développement"]},"de":{"name":"ICHAD-Syndrom","synonyms":["Immunregulationsstörung-kraniofaziale Anomalien-Hörbeeinträchtigung-Athelie-Entwicklungsverzögerung-Syndrom"]},"es":{"name":"Síndrome ICHAD","synonyms":["Síndrome de desregulación inmunológica-anomalías craneofaciales-defecto auditivo-atelia-retraso del desarrollo"]},"it":{"name":"Sindrome ICHAD","synonyms":["Sindrome disregolazione immunitaria-anomalie craniofacciali-ipoacusia-atelia-ritardo dello sviluppo"]},"nl":{"name":"ICHAD-syndroom","synonyms":["Immuundisregulatie - craniofaciale anomalieën - gehoorverlies - athelie - ontwikkelingsachterstand-syndroom"]},"pt":{"name":"ICHAD syndrome"},"pl":{"name":"ICHAD syndrome","synonyms":["Immune dysregulation-craniofacial anomalies-hearing impairment-athelia-developmental delay syndrome"]},"cs":{"name":"ICHAD syndrome","synonyms":["Immune dysregulation-craniofacial anomalies-hearing impairment-athelia-developmental delay syndrome"]}},"xrefs":[{"source":"OMIM","code":"621234","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D89.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.2Y","qualifier":"NTBT","icd_relation":"attributed","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]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":331217,"name":"Syndrome with combined immunodeficiency","classifications":[156,195]}],"children":[],"genes":[{"symbol":"IKZF2","name":"IKAROS family zinc finger 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"37316189[PMID]","hgnc":"13177","ensembl":"ENSG00000030419","omim":"606234","loci":["2q34"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"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}