{"orpha":93945,"name":"X-linked intellectual disability, Porteous type","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Renpenning syndrome","url":"https://raremap.alftech.space/d/ORPHA-93945/","orphanet_url":"https://www.orpha.net/en/disease/detail/93945","names":{"fr":{"name":"Déficience intellectuelle liée à l'X type Porteous"},"de":{"name":"Intelligenzminderung, X-chromosomale, Typ Porteous"},"es":{"name":"Discapacidad intelectual ligada al cromosoma X tipo Porteous"},"it":{"name":"Disabilità intellettiva legata all'X, tipo Porteous"},"nl":{"name":"X-gebonden intellectuele achterstand, Porteous-type"},"pt":{"name":"Perturbação do desenvolvimento intelectual ligada ao X, tipo Porteous"},"pl":{"name":"Niepełnosprawność intelektualna sprzężona z chromosomem X, typ Porteousa"},"cs":{"name":"X-vázaná mentální retardace, Porteousův typ"},"uk":{"name":"Х-зчеплена розумова відсталість, тип Портеуса"},"zh":{"name":"X-连锁智力障碍，Porteous型"},"tr":{"name":"X'e bağlı zihinsel yetersizlik, Porteous tipi"}},"xrefs":[{"source":"OMIM","code":"309500","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1408006593"},{"source":"MONDO","code":"0019766","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681616","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":3242,"name":"Renpenning syndrome","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"PQBP1","name":"polyglutamine binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9330","ensembl":"ENSG00000102103","omim":"300463","loci":["Xp11.23"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-09-02","source":"30143497[PMID]_15782410[PMID]","terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000378","label":"Cupped ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004325","label":"Decreased body weight","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002292","label":"Frontal balding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null}]}}