{"orpha":700325,"name":"NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["X-linked syndromic intellectual developmental disorder, Hackmann-Di Donato type"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-700325/","orphanet_url":"https://www.orpha.net/en/disease/detail/700325","names":{"fr":{"name":"Syndrome de déficience intellectuelle-dysmorphie facial-habitus marfanoïde-scoliose associé à NKAP"},"de":{"name":"Intelligenzminderung-Gesichtsdysmorphien-marfanoider Habitus-Skoliose-Syndrom, NKAP-assoziiert","synonyms":["X-chromosomale syndromale intellektuelle Entwicklungsstörung, Typ Hackmann-Di Donato"]},"es":{"name":"Síndrome de discapacidad intelectual-dismorfia facial-hábito marfanoide-escoliosis asociado a NKAP","synonyms":["Trastorno sindrómico del desarrollo intelectual ligado al cromosoma X, tipo Hackmann-Di Donato"]},"it":{"name":"Sindrome disabilità intellettiva-dismorfismi facciali-habitus marfanoide-scoliosi correlata a NKAP","synonyms":["Malattia sindromica dello sviluppo intellettivo legata all'X, tipo Hackmann-Di Donato"]},"nl":{"name":"NKAP-gerelateerd intellectuele achterstand - faciale dysmorfie - marfanoïde habitus - scoliose-syndroom","synonyms":["X-gebonden syndromale intellectuele ontwikkelingsstoornis, Hackmann-Di Donato-type"]},"pt":{"name":"NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome"},"pl":{"name":"NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome","synonyms":["X-linked syndromic intellectual developmental disorder, Hackmann-Di Donato type"]},"cs":{"name":"NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome","synonyms":["X-linked syndromic intellectual developmental disorder, Hackmann-Di Donato type"]}},"xrefs":[{"source":"OMIM","code":"301039","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]},{"orpha":498448,"name":"Overgrowth or tall stature syndrome with skeletal involvement","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"NKAP","name":"NFKB activating protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"31587868[PMID]","hgnc":"29873","ensembl":"ENSG00000101882","omim":"300766","loci":["Xq24"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"31587868[PMID]_38647244[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"31587868[PMID]_38647244[PMID]_ORPHANET"}],"phenotypes":null}