{"orpha":85326,"name":"X-linked intellectual disability, Stoll type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"X-linked intellectual disability, Stoll type is characterised by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85326/","orphanet_url":"https://www.orpha.net/en/disease/detail/85326","names":{"fr":{"name":"Déficience intellectuelle liée à l'X type Stoll","definition":"Déficience intellectuelle liée à l'X type Stoll se caractérise par une déficience intellectuelle, une petite taille et un visage caractéristique : hypertélorisme, front proéminent, bosse frontale, racine du nez large et narines antéversées. Ce syndrome, de transmission lié à l'X, a été décrit chez quatre hommes issus de trois générations d'une même famille. Deux femmes sans déficit intellectuel présentaient également les caractéristiques faciales."},"de":{"name":"Intelligenzminderung, X-chromosomale, Typ Stoll","definition":"Dieses Syndrom ist charakterisiert durch Intelligenzminderung, Kleinwuchs und charakteristisches Gesicht (Hypertelorismus, prominente Stirn, Balkonstirn, breite Nasenspitze, antevertierte Nares)."},"es":{"name":"Discapacidad intelectual ligada al cromosoma X tipo Stoll","definition":"Es un trastorno caracterizado por déficit intelectual, talla baja y facies característica (hipertelorismo, frente prominente, abombamiento frontal, punta nasal ancha y narinas antevertidas). Se ha descrito en cuatro varones de tres generaciones de la misma familia. Dos mujeres de esta familia también presentaron déficit intelectual y facies característica. La transmisión está ligada al cromosoma X."},"it":{"name":"Disabilità intellettiva legata all'X, tipo Stoll"},"nl":{"name":"X-gebonden intellectuele achterstand, Stoll-type","definition":"Een aandoening, gekenmerkt door intellectuele achterstand, kleine gestalte, en kenmerkend gelaat (hypertelorisme, prominent voorhoofd, boller voorhoofd, brede neuspunt, en anteversie van neusgaten). Het werd beschreven bij vier mannen uit drie generaties van eenzelfde familie. Twee vrouwen uit deze familie vertoonden eveneens intellectuele achterstand en het kenmerkende gelaat. Transmissie gebeurt X-gebonden."},"pt":{"name":"Perturbação do desenvolvimento intelectual ligada ao X, tipo Stoll"},"pl":{"name":"Niepełnosprawność intelektualna typu Stolla sprzężona z chromosomem X"},"cs":{"name":"X-vázaná mentální retardace, Stollův typ"},"uk":{"name":"Х-зчеплена розумова відсталість, тип Штолля","definition":"X-linked intellectual disability, Stoll type is characterised by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked."},"zh":{"name":"X连锁智力障碍，Stoll型"},"tr":{"name":"X'e bağlı zihinsel yetersizlik, Stoll 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":"0019423","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305075","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":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"1877628[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1877628[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-08-09","source":"1877628[PMID]","terms":[{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005281","label":"Hypoplastic nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002003","label":"Large forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000349","label":"Widow's peak","frequency":"Frequent (79-30%)","criteria":null}]}}