{"orpha":2958,"name":"X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Prieto-Badia-Mulas syndrome"],"definition":"An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2958/","orphanet_url":"https://www.orpha.net/en/disease/detail/2958","names":{"fr":{"name":"Syndrome de déficience intellectuelle liée à l'X-dysmorphie-atrophie cérébrale","synonyms":["Syndrome de Prieto-Badia-Mulas"],"definition":"Déficience intellectuelle syndromique liée à l'X caractérisée par une déficience intellectuelle, une atrophie cérébrale sous-corticale, des anomalies dentaires, une luxation de la rotule, une fossette sacro-coccygienne et une dysmorphie faciale."},"de":{"name":"X-chromosomale Intelligenzminderung-Dysmorphie-zerebrale Atrophie-Syndrom","synonyms":["Prieto-Badia-Mulas-Syndrom"],"definition":"Ein seltenes X-chromosomales Syndrom, das gekennzeichnet ist durch Intelligenzminderung, subkortikale zerebrale Atrophie, Zahnanomalien, Patellaluxation, Hautgrübchen am unteren Rücken und dysmorphe Gesichtszüge."},"es":{"name":"Síndrome de discapacidad intelectual-dismorfia-atrofia cerebral ligado al cromosoma X","synonyms":["Síndrome de Prieto-Badia-Mulas"],"definition":"Es una discapacidad intelectual sindrómica ligada al cromosoma X caracterizada por discapacidad intelectual, atrofia cerebral subcortical, anomalías dentales, luxación rotuliana, hoyuelos en la parte baja de la espalda y rasgos faciales dismórficos."},"it":{"name":"Sindrome disabilità intellettiva legata all'X-dismorfismi-atrofia cerebrale","synonyms":["Sindrome di Prieto-Badia-Mulas"],"definition":"È una disabilità intellettiva sindromica legata all'X, caratterizzata da disabilità intellettiva, atrofia cerebrale sottocorticale, anomalie dei denti, lussazione della rotula, fossetta cutanea nella porzione inferiore della schiena e dismorfismi facciali."},"nl":{"name":"X-gebonden intellectuele achterstand - dysmorfie - cerebrale atrofie-syndroom","synonyms":["Syndroom van Prieto-Badia-Mulas"],"definition":"Een X-gebonden, syndromale intellectuele beperking, gekarakteriseerd door intellectuele achterstand, subcorticale cerebrale atrofie, gebitsanomalieën, luxatie van patella, kuiltje van huid op onderrug, en dysmorfe gelaatskenmerken."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-dismorfia-atrofia cerebral ligada ao X","synonyms":["Síndrome Prieto-Badia-Mulas"]},"pl":{"name":"Niepełnosprawność intelektualna sprzężona z chromosomem X - dysmorfia - atrofia mózgu","synonyms":["Zespół Prieto, Badia i Mulasa"]},"cs":{"name":"X-vázaný syndrom zahrnující mentální retardaci, dysmorfismus a atrofii mozku","synonyms":["Prietoův-Badiaové-Mulasův syndrom","Prieto-Badia-Mulasův syndrom"]},"uk":{"name":"Синдром Х-зчепленої розумової відсталості-дисморфізму-церебральної атрофії","synonyms":["Синдром Прієто-Бадіа-Муласа"],"definition":"An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features."},"zh":{"name":"X连锁智力障碍-畸形-脑萎缩综合征","synonyms":["Prieto-Badia-Mulas综合征"]},"tr":{"name":"X'e bağlı zihinsel yetersizlik-dismorfizm-serebral atrofi sendromu","synonyms":["Prieto-Badia-Mulas sendromu"]}},"xrefs":[{"source":"OMIM","code":"309610","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010667","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304934","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4482","qualifier":"E","icd_relation":null,"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":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"3121220[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3121220[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-03","source":"1673297[PMID]_3121220[PMID]","terms":[{"hpo":"HP:0001098","label":"Abnormal fundus morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011064","label":"Abnormal number of incisors","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001776","label":"Bilateral talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002673","label":"Coxa valga","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040019","label":"Finger clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010499","label":"Patellar subluxation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010781","label":"Skin dimple","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005815","label":"Supernumerary ribs","frequency":"Frequent (79-30%)","criteria":null}]}}