{"orpha":85323,"name":"X-linked intellectual disability, Seemanova type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85323/","orphanet_url":"https://www.orpha.net/en/disease/detail/85323","names":{"fr":{"name":"Déficience intellectuelle liée à l'X type Seemanova","definition":"La déficience intellectuelle liée à l'X type Seemanova se caractérise par une microcéphalie, une déficience intellectuelle, un retard de croissance et un hypogénitalisme. Un visage caractéristique et des problèmes ophtalmologiques sont également présents : microphtalmie, microcornée et cataracte. Ce syndrome, de transmission lié à l'X, a été décrit chez quatre garçons issus d'une même famille."},"de":{"name":"Intelligenzminderung, X-chromosomale, Typ Seemanova","definition":"Dieses Syndrom ist gekennzeichnet durch Mikrozephalie, Intelligenzminderung, verzögertes Wachstum und Hypogenitalismus."},"es":{"name":"Discapacidad intelectual ligada al cromosoma X tipo Seemanova","definition":"Es un trastorno caracterizado por microcefalia, déficit intelectual, retraso del crecimiento e hipogenitalismo. Se ha descrito en cuatro niños de una misma familia. Los pacientes presentan una facies característica y anomalías oftalmológicas, incluyendo microftalmía, microcórnea y cataratas. La transmisión está ligada al cromosoma X."},"it":{"name":"Disabilità intellettiva legata all'X, tipo Seemanova"},"nl":{"name":"X-gebonden intellectuele achterstand, Seemanova-type","definition":"Een aandoening, gekenmerkt door microcefalie, intellectuele achterstand, groeiretardatie, en hypogonadisme. Het werd beschreven bij vier jongens uit één familie. Een kenmerkend gelaat en oftalmologische anomalieën waren ook aanwezig, waaronder microftalmie, microcornea en cataract. Transmissie gebeurt X-gebonden."},"pt":{"name":"Perturbação do desenvolvimento intelectual ligada ao X, tipo Seemanova"},"pl":{"name":"Niepełnosprawność intelektualna typu Seemanova sprzężona z chromosomem X"},"cs":{"name":"X-vázaná mentální retardace, Seemanové typ"},"uk":{"name":"Х-зчеплена розумова відсталість, тип Сіманова","definition":"X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked."},"zh":{"name":"X连锁智力障碍，Seemanova型"},"tr":{"name":"X'e bağlı zihinsel yetersizlik, Seemanova tipi"}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1197077842"},{"source":"MONDO","code":"0019421","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305088","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":"8958326[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8958326[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-08-09","source":"8958326[PMID]","terms":[{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009004","label":"Hypoplasia of the musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002191","label":"Progressive spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null}]}}