{"orpha":85322,"name":"X-linked intellectual disability, Pai type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare X-linked syndromic intellectual disability characterized by global developmental delay and severe intellectual disability, seizures, and recurrent lower respiratory tract infections, resulting in premature death in affected males. Additional reported manifestations include mild dysmorphic facial features (such as epicanthic folds, high nasal bridge, or small mouth), gait disturbances, brisk tendon reflexes, delayed bone age, and tapering fingers. No evident heterozygous manifestation has been reported in females.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85322/","orphanet_url":"https://www.orpha.net/en/disease/detail/85322","names":{"fr":{"name":"Déficience intellectuelle liée à l'X type Pai","definition":"Déficience intellectuelle syndromique rare, liée à l'X, caractérisée par un retard global de développement, une déficience intellectuelle sévère, des convulsions et des épisodes récurrents d'infections des voies respiratoires inférieures, entraînant le décès prématuré des patients de sexe masculin. Parmi les autres manifestations rapportées figurent une légère dysmorphie faciale (épicanthus, pont nasal haut ou petite bouche), des troubles de la marche, des réflexes tendineux vifs, un retard de l'âge osseux et des doigts effilés. Aucune manifestation hétérozygote n'a été rapportée chez les femmes."},"de":{"name":"Intelligenzminderung, X-chromosomale, Typ Pai","definition":"Eine seltene X-chromosomale Form der Intelligenzminderung, die durch globale Entwicklungsverzögerung, schwere intellektuelle Beeinträchtigung, Krampfanfälle und wiederkehrende Infektionen der unteren Atemwege gekennzeichnet ist und bei den betroffenen Männern zu einem frühzeitigen Tod führt. Zu den weiteren berichteten Manifestationen gehören leichte Gesichtsdysmorphien (wie epikanthische Falten, hoher Nasenrücken oder kleiner Mund), Gangstörungen, schnelle Sehnenreflexe, verzögertes Knochenalter und spitze Finger. Bei Frauen wurde keine offensichtliche heterozygote Manifestation berichtet."},"es":{"name":"Discapacidad intelectual ligada al cromosoma X tipo Pai","definition":"Es una discapacidad intelectual sindrómica poco frecuente ligada al cromosoma X caracterizada por retraso global del desarrollo y grave discapacidad intelectual, crisis epilépticas e infecciones recurrentes de las vías respiratorias inferiores, que provocan el fallecimiento precoz de los varones afectos. Otras manifestaciones descritas son leves rasgos faciales dismórficos (como pliegues epicánticos, puente nasal alto o boca pequeña), trastornos de la marcha, reflejos tendinosos vivos, retraso de la edad ósea y dedos de las manos ahusados. No se ha descrito ninguna manifestación heterocigótica evidente en las mujeres."},"it":{"name":"Disabilità intellettiva legata all'X, tipo Pai","definition":"Si tratta di una disabilità intellettiva sindromica rara legata all'X, caratterizzata da ritardo dello sviluppo globale e disabilità intellettiva grave, crisi epilettiche e infezioni ricorrenti delle vie respiratorie inferiori, che causano morte prematura nei maschi affetti. I pazienti possono presentare anche dismorfismi facciali sfumati (epicanto, sella nasale prominente, bocca piccola), anomalie dell'andatura, velocizzazione dei riflessi tendinei, ritardo dell'età ossea e dita affusolate. Non è stata documentata alcuna manifestazione nelle femmine eterozigoti."},"nl":{"name":"X-gebonden intellectuele achterstand, Pai-type","definition":"Een zeldzame X-gebonden syndromale intellectuele achterstand, gekarakteriseerd door algehele ontwikkelingsachterstand en ernstige intellectuele achterstand, insulten, en recidiverende infecties van onderste luchtwegen, en resulterend in voortijdige sterfte bij getroffen mannen. Bijkomende manifestaties die werden gerapporteerd, zijn onder meer milde dysmorfe gelaatskenmerken (zoals epicanthusplooien, hoge neusbrug, of kleine mond), gangstoornissen, hoge peesreflexen, vertraagde botmaturatie, en taps toelopende vingers. Er werd geen duidelijke heterozygote manifestatie gerapporteerd bij vrouwen."},"pt":{"name":"Perturbação do desenvolvimento intelectual ligada ao X, tipo Pai"},"pl":{"name":"Niepełnosprawność intelektualna typu Pai sprzężona z chromosomem X"},"cs":{"name":"X-vázaná mentální retardace, Paiův typ"},"uk":{"name":"Х-зчеплена розумова відсталість, тип Пай","definition":"A rare X-linked syndromic intellectual disability characterized by global developmental delay and severe intellectual disability, seizures, and recurrent lower respiratory tract infections, resulting in premature death in affected males. Additional reported manifestations include mild dysmorphic facial features (such as epicanthic folds, high nasal bridge, or small mouth), gait disturbances, brisk tendon reflexes, delayed bone age, and tapering fingers. No evident heterozygous manifestation has been reported in females."},"zh":{"name":"X连锁智力障碍，Pai型"},"tr":{"name":"X'e bağlı zihinsel yetersizlik, Pai tipi"}},"xrefs":[{"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":"0019420","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305026","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","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"9222958[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9222958[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"9222958[PMID]","terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000034","label":"Hydrocele testis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002510","label":"Spastic tetraplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Occasional (29-5%)","criteria":null}]}}