{"orpha":729781,"name":"Congenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural deafness syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital generalized alopecia-hypoplasia of kidneys-facial dysmorphism-sensorineural deafness syndrome","Congenital generalized alopecia-renal hypoplasia-facial dysmorphism-sensorineural deafness syndrome","Congenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural hearing loss syndrome","Congenital generalized alopecia-hypoplasia of kidneys-facial dysmorphism-sensorineural hearing loss syndrome","Congenital generalized alopecia-renal hypoplasia-facial dysmorphism-sensorineural hearing loss syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-729781/","orphanet_url":"https://www.orpha.net/en/disease/detail/729781","names":{"fr":{"name":"Syndrome d'alopécie congénitale généralisée-hypoplasie rénale-dysmorphie faciale-surdité","synonyms":["Syndrome d'alopécie congénitale généralisée-hypoplasie des reins-dysmorphie faciale-surdité","Syndrome d'alopécie congénitale généralisée-reins hypoplasiques-dysmorphie faciale-surdité"]},"de":{"name":"Kongenitale generalisierte Alopezie-hypoplastische Nieren-faziale Dysmorphie-sensorineurale Schwerhörigkeit-Syndrom","synonyms":["GKAF","Wachstumsverzögerung-hypoplastische Nieren- Alopezie-charakteristische Gesichtsmerkmale-Syndrom"]},"es":{"name":"Síndrome congénito de alopecia generalizada-hipoplasia renal-dismorfia facial-sordera neurosensorial","synonyms":["Síndrome congénito de alopecia generalizada-hipoplasia renal-dismorfia facial-hipoacusia neurosensorial"]},"it":{"name":"Sindrome alopecia generalizzata congenita-reni ipoplastici-dismorfismi facciali-sordità neurosensoriale","synonyms":["Sindrome alopecia generalizzata congenita-ipoplasia renale-dismorfismi facciali-perdita dell'udito neurosensoriale","Sindrome alopecia generalizzata congenita-ipoplasia dei reni-dismorfismi facciali-sordità neurosensoriale","Sindrome alopecia generalizzata congenita-ipoplasia renale-dismorfismi facciali-sordità neurosensoriale","Sindrome alopecia generalizzata congenita-reni ipoplastici-dismorfismi facciali- perdita dell'udito neurosensoriale","Sindrome alopecia generalizzata congenita-ipoplasia dei reni-dismorfismi facciali- perdita dell'udito neurosensoriale"]},"nl":{"name":"Congenitale gegeneraliseerde alopecie - hypoplastische nieren - faciale dysmorfie - sensorineurale doofheid-syndroom","synonyms":["Congenitale gegeneraliseerde alopecie - hypoplasie van nier - faciale dysmorfie - sensorineurale doofheid-syndroom","Congenitale gegeneraliseerde alopecie - hypoplasie van nier - faciale dysmorfie - sensorineuraal gehoorverlies-syndroom","Congenitale gegeneraliseerde alopecie - hypoplasie van nieren - faciale dysmorfie - sensorineurale doofheid-syndroom","Congenitale gegeneraliseerde alopecie - hypoplastische nieren - faciale dysmorfie - sensorineuraal gehoorverlies-syndroom","Congenitale gegeneraliseerde alopecie - hypoplasie van nieren - faciale dysmorfie - sensorineuraal gehoorverlies-syndroom"]},"pt":{"name":"Congenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural deafness syndrome"},"pl":{"name":"Congenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural deafness syndrome","synonyms":["Congenital generalized alopecia-hypoplasia of kidneys-facial dysmorphism-sensorineural deafness syndrome","Congenital generalized alopecia-renal hypoplasia-facial dysmorphism-sensorineural deafness syndrome","Congenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural hearing loss syndrome","Congenital generalized alopecia-hypoplasia of kidneys-facial dysmorphism-sensorineural hearing loss syndrome","Congenital generalized alopecia-renal hypoplasia-facial dysmorphism-sensorineural hearing loss syndrome"]},"cs":{"name":"Congenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural deafness syndrome","synonyms":["Congenital generalized alopecia-hypoplasia of kidneys-facial dysmorphism-sensorineural deafness syndrome","Congenital generalized alopecia-renal hypoplasia-facial dysmorphism-sensorineural deafness syndrome","Congenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural hearing loss syndrome","Congenital generalized alopecia-hypoplasia of kidneys-facial dysmorphism-sensorineural hearing loss syndrome","Congenital generalized alopecia-renal hypoplasia-facial dysmorphism-sensorineural hearing loss syndrome"]}},"xrefs":[{"source":"OMIM","code":"619321","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79364,"name":"Alopecia","classifications":[187]},{"orpha":481771,"name":"Genetic alopecia","classifications":[156]},{"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":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"ZPR1","name":"ZPR1 zinc finger","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"29851065[PMID]","hgnc":"13051","ensembl":"ENSG00000109917","omim":"603901","loci":["11q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"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}