{"orpha":720326,"name":"Developmental delay-cervical spine anomalies-facial dysmorphism-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Al Kaissi syndrome","CDK10-related neurodevelopmental disorder"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-720326/","orphanet_url":"https://www.orpha.net/en/disease/detail/720326","names":{"fr":{"name":"Syndrome de retard du développement-anomalies du rachis cervical-dysmorphie faciale-déficience intellectuelle","synonyms":["Syndrome d'Al Kaissi","Trouble du neurodéveloppement associé à CDK10"]},"de":{"name":"Entwicklungsverzögerung-Halswirbelsäulenanomalien-Gesichtsdysmorphie-Intelligenzminderung-Syndrom","synonyms":["CDK10-assoziierte neurologische Entwicklungsstörung","Al Kaissi-Syndrom"]},"es":{"name":"Síndrome de retraso del desarrollo-anomalías de la columna cervical-dismorfia facial-discapacidad intelectual","synonyms":["Síndrome de Al Kaissi","Trastorno del neurodesarrollo asociado a CDK10"]},"it":{"name":"Sindrome ritardo dello sviluppo-anomalie della colonna cervicale-dismorfismi facciali-disabilità intellettiva","synonyms":["Sindrome di Al Kaissi","Malattia del neurosviluppo correlata a CDK10"]},"nl":{"name":"Ontwikkelingsachterstand - anomalieën van cervicale wervelkolom - faciale dysmorfie - intellectuele achterstand-syndroom","synonyms":["Syndroom van Al Kaissi","CDK10-gerelateerde neurologische ontwikkelingsstoornis"]},"pt":{"name":"Developmental delay-cervical spine anomalies-facial dysmorphism-intellectual disability syndrome"},"pl":{"name":"Developmental delay-cervical spine anomalies-facial dysmorphism-intellectual disability syndrome","synonyms":["Al Kaissi syndrome","CDK10-related neurodevelopmental disorder"]},"cs":{"name":"Developmental delay-cervical spine anomalies-facial dysmorphism-intellectual disability syndrome","synonyms":["Al Kaissi syndrome","CDK10-related neurodevelopmental disorder"]}},"xrefs":[{"source":"OMIM","code":"617694","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93454,"name":"Dysostosis with predominant vertebral and costal involvement","classifications":[147,156,199]},{"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]}],"children":[],"genes":[{"symbol":"CDK10","name":"cyclin dependent kinase 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28886341[PMID]","hgnc":"1770","ensembl":"ENSG00000185324","omim":"603464","loci":["16q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"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}