{"orpha":85288,"name":"X-linked intellectual disability, Stocco Dos Santos type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"X-linked intellectual disability, Stocco Dos Santos type is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the <i>KIAA1202</i> gene, localised to the Xp11.2 region.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85288/","orphanet_url":"https://www.orpha.net/en/disease/detail/85288","names":{"fr":{"name":"Déficience intellectuelle liée à l'X type Stocco Dos Santos","definition":"La déficience intellectuelle liée à l'X type Stocco Dos Santos se caractérise par un déficit intellectuel sévère avec hyperactivité, un retard de langage, une luxation congénitale de la hanche, une petite taille, une cyphose et des infections respiratoires récurrentes. Un comportement agressif et des crises fréquentes d'épilepsie peuvent également être présents. De transmission liée à l'X, elle a été décrite chez quatre garçons issus d'une même famille. Ce syndrome est dû à une mutation du gène <i> KIAA1202 </i> localisé dans la région Xp11.2."},"de":{"name":"Intelligenzminderung, X-chromosomale, Typ Stocco Dos Santos","definition":"Dieses Syndrom ist gekennzeichnet durch schwere Intelligenzminderung, Hyperaktivität, verzögerte Sprachentwicklung, angeborene Hüftluxation, Kleinwuchs, Kyphose und rezidivierende Atemwegsinfekte. Auch aggressives Verhalten und häufige zerebrale Krämpfe sind möglich."},"es":{"name":"Discapacidad intelectual ligada al cromosoma X tipo Stocco Dos Santos","definition":"Es un trastorno caracterizado por déficit intelectual grave con hiperactividad, retraso del lenguaje, luxación congénita de cadera, talla baja, cifosis e infecciones respiratorias recurrentes. Los pacientes también pueden presentar conducta agresiva y crisis epilépticas frecuentes. El síndrome se ha descrito en cuatro niños de la misma familia. La transmisión está ligada al cromosoma X y está causada por mutaciones en el gen <i>KIAA1202</i>, localizado en la región Xp11.2."},"it":{"name":"Disabilità intellettiva legata all'X, tipo Stocco Dos Santos"},"nl":{"name":"X-gebonden intellectuele achterstand, Stocco Dos Santos-type","definition":"Een aandoening, gekenmerkt door ernstige intellectuele achterstand met hyperactiviteit, taalachterstand, congenitale luxatie van heup, kleine gestalte, kyfose, en recidiverende respiratoire infecties. Agressief gedrag en frequente epileptische aanvallen kunnen ook aanwezig zijn. Het syndroom werd beschreven bij vier jongens uit eenzelfde familie. Transmissie gebeurt X-gebonden, en de aandoening wordt veroorzaakt door mutaties in het gen <i>KIAA1202</i>, gesitueerd in de regio Xp11.2."},"pt":{"name":"Perturbação do desenvolvimento intelectual ligada ao X, tipo Stocco Dos Santos"},"pl":{"name":"Niepełnosprawność intelektualna typu Stocco Dos Santos sprzężona z chromosomem X"},"cs":{"name":"X-vázaná mentální retardace, Stocco Dos Santosové typ"},"uk":{"name":"Х-зчеплена розумова відсталість, тип Стокко Дос Сантос","definition":"X-linked intellectual disability, Stocco Dos Santos type is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the <i>KIAA1202</i> gene, localised to the Xp11.2 region."},"zh":{"name":"X连锁智力障碍，Stocco Dos Santos型"},"tr":{"name":"X'e bağlı zihinsel yetersizlik, Stocco Dos Santos tipi"}},"xrefs":[{"source":"OMIM","code":"300434","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":"0010325","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305076","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1133","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":"SHROOM4","name":"shroom family member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16249884[PMID]","hgnc":"29215","ensembl":"ENSG00000158352","omim":"300579","loci":["Xp11.22"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"2063914[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2063914[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-08-08","source":"2063914[PMID]_12673656[PMID]","terms":[{"hpo":"HP:0008780","label":"Congenital bilateral hip dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003144","label":"Increased serum serotonin","frequency":"Occasional (29-5%)","criteria":null}]}}