{"orpha":716109,"name":"Global developmental delay-facial dysmorphism-brachydactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["DDB1-related neurodevelopmental disorder","White-Kernohan syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-716109/","orphanet_url":"https://www.orpha.net/en/disease/detail/716109","names":{"fr":{"name":"Syndrome de retard global de développement-dysmorphie faciale-brachydactylie","synonyms":["Syndrome de White-Kernohan","Trouble du neurodéveloppement associé à DDB1"]},"de":{"name":"Globale Entwicklungsverzögerung-Gesichtsdysmorphie-Brachydaktylie-Syndrom","synonyms":["Neurologische Entwicklungsstörung, DDB1-assoziierte","White-Kernohan-Syndrom"]},"es":{"name":"Síndrome de retraso global del desarrollo-dismorfia facial-braquidactilia","synonyms":["Síndrome de White-Kernohan","Trastorno del neurodesarrollo asociado a DDB1"]},"it":{"name":"Sindrome ritardo dello sviluppo globale-dismorfismi facciali-brachidattilia","synonyms":["Malattia del neurosviluppo correlata a DDB1","Sindrome di White-Kernohan"]},"nl":{"name":"Algehele ontwikkelingsachterstand - faciale dysmorfie - brachydactylie-syndroom","synonyms":["DDB1-gerelateerde neurologische ontwikkelingsstoornis","Syndroom van White-Kernohan"]},"pt":{"name":"Global developmental delay-facial dysmorphism-brachydactyly syndrome"},"pl":{"name":"Zespół globalnego opóźnienia rozwoju, dysmorfii twarzy i brachydaktylii","synonyms":["DDB1-related neurodevelopmental disorder","White-Kernohan syndrome"]},"cs":{"name":"Global developmental delay-facial dysmorphism-brachydactyly syndrome","synonyms":["DDB1-related neurodevelopmental disorder","White-Kernohan syndrome"]}},"xrefs":[{"source":"OMIM","code":"619426","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","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]}],"children":[],"genes":[{"symbol":"DDB1","name":"damage specific DNA binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33743206[PMID]","hgnc":"2717","ensembl":"ENSG00000167986","omim":"600045","loci":["11q12.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"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}