{"orpha":672985,"name":"Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ZIC1-related syndromic craniosynostosis"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-672985/","orphanet_url":"https://www.orpha.net/en/disease/detail/672985","names":{"fr":{"name":"Syndrome de craniosynostose-anomalies squelettiques et cérébelleuses-difficulté d'apprentissage"},"de":{"name":"Kraniosynostose-Skelett- und Kleinhirnanomalien-Lernschwierigkeiten-Syndrom","synonyms":["ZIC1-assoziierte syndromale Kraniosynostose"]},"es":{"name":"Síndrome de craneosinostosis-anomalías esqueléticas y cerebelosas-trastornos del aprendizaje","synonyms":["Craneosinostosis sindrómica asociada al gen ZIC1"]},"it":{"name":"Sindrome craniosinostosi-anomalie scheletriche e cerebellari-difficoltà di apprendimento","synonyms":["Craniosinostosi sindromica correlata a ZIC1"]},"nl":{"name":"Craniosynostose - skeletale en cerebellaire anomalieën - leerstoornissen-syndroom","synonyms":["ZIC1-gerelateerde syndromale craniosynostose"]},"pt":{"name":"Síndrome de craniossinostose-anomalias esqueléticas e cerebelares-dificuldades de aprendizagem","synonyms":["Craniossinostose sindrómica ZIC1-relacionada"]},"pl":{"name":"Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome","synonyms":["ZIC1-related syndromic craniosynostosis"]},"cs":{"name":"Syndrom zahrnující kraniosynostózu, anomálie skeletu a mozečku a poruchy učení","synonyms":["ZIC1-related syndromic craniosynostosis"]},"uk":{"name":"Синдром краніосиностозу-скелетних та мозочкових аномаліїй-розумової відсталості","synonyms":["Синдром краніосиностозу, повязаний з ZIC1"]}},"xrefs":[{"source":"OMIM","code":"618736","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014705","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"14705","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925086","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"ZIC1","name":"Zic family zinc finger 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30391508[PMID]","hgnc":"12872","ensembl":"ENSG00000152977","omim":"600470","loci":["3q24"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}