{"orpha":85286,"name":"X-linked intellectual disability, Shashi type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Syndromic X-linked intellectual disability type 11"],"definition":"X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85286/","orphanet_url":"https://www.orpha.net/en/disease/detail/85286","names":{"fr":{"name":"Déficience intellectuelle liée à l'X type Shashi","synonyms":["Déficience intellectuelle liée à l'X syndromique type 11"],"definition":"La déficience intellectuelle liée à l'X type Shashi se caractérise par un déficit intellectuel modéré associé à une obésité, une macroorchidie et des traits caractéristiques du visage : oreilles larges, lèvre inférieure proéminente, paupières gonflées. De transmission liée à l'X, elle a été décrite chez neuf garçons issus de deux familles différentes. Le gène responsable de ce syndrome est localisé en région q21.3-q27 du chromosome X."},"de":{"name":"Intelligenzminderung, X-chromosomale, Typ Shashi","synonyms":["Intelligenzminderung, X-chromosomale, syndromale, Typ 11"],"definition":"Dieses Syndrom ist gekenzeichnet durch moderate Intelligenzminderung, Adipositas, Makroorchidie und ein charakteristisches Gesicht (große Ohren, prominente Unterlider, geschwollen erscheinende Augenlider ['puffy eyelids'])."},"es":{"name":"Discapacidad intelectual ligada al cromosoma X tipo Shashi","synonyms":["Discapacidad intelectual sindrómica ligada al cromosoma X tipo 11"],"definition":"Es un trastorno caracterizado por déficit intelectual moderado, obesidad, macroorquidia y facies característica (orejas grandes, labio inferior prominente y párpados hinchados). Se ha descrito en nueve niños de dos familias. La transmisión está ligada al cromosoma X y el gen causal ha sido localizado en la región q21.3-q27 del cromosoma X."},"it":{"name":"Disabilità intellettiva legata all'X, tipo Shashi","synonyms":["Disabilità intellettiva sindromica legato all'X, tipo 11"]},"nl":{"name":"X-gebonden intellectuele achterstand, Shashi-type","synonyms":["Syndromale X-gebonden intellectuele achterstand type 11"],"definition":"Een aandoening, gekenmerkt door matige intellectuele achterstand, obesitas, macro-orchidie, en kenmerkend gelaat (grote oren, prominente onderlip en gezwollen oogleden). Het werd beschreven bij negen jongens uit twee families. Transmissie gebeurt X-gebonden, en het causale gen werd gelokaliseerd in de regio q21.3-q27 van het X-chromosoom."},"pt":{"name":"Perturbação do desenvolvimento intelectual ligada ao X, tipo Shashi","synonyms":["Perturbação do desenvolvimento intelectual sindromática ligada ao X tipo 11"]},"pl":{"name":"Niepełnosprawność intelektualna typu Shashi sprzężona z chromosomem X","synonyms":["Syndromiczna niepełnosprawność intelektualna sprzężona z chromosomem X typu 11"]},"cs":{"name":"X-vázaná mentální retardace, Shashiové typ","synonyms":["Syndromická X-vázaná mentální retardace, typ 11"]},"uk":{"name":"Х-зчеплена розумова відсталість, тип Шаші","synonyms":["Синдромальна Х-зчеплена розумова відсталість, тип 11"],"definition":"X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome."},"zh":{"name":"X连锁智力障碍，Shashi型","synonyms":["综合征性X-连锁智力障碍11型"]},"tr":{"name":"X'e bağlı zihinsel yetersizlik, Shashi tipi","synonyms":["Sendromik X'e bağlı zihinsel yetersizlik tip 11"]}},"xrefs":[{"source":"OMIM","code":"300238","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":"0010277","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305085","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4119","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":[{"symbol":"RBMX","name":"RNA binding motif protein X-linked","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25256757[PMID]_34260915[PMID]","hgnc":"9910","ensembl":"ENSG00000147274","omim":"300199","loci":["Xq26.3"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"12605440[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12605440[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"10677307[PMID]","terms":[{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000053","label":"Macroorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100540","label":"Palpebral edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000336","label":"Prominent supraorbital ridges","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}