{"orpha":137831,"name":"X-linked intellectual disability-cerebellar hypoplasia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["OPHN1 syndrome","Oligophrenin-1 syndrome"],"definition":"X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-137831/","orphanet_url":"https://www.orpha.net/en/disease/detail/137831","names":{"fr":{"name":"Syndrome de déficience intellectuelle liée à l'X-hypoplasie cérébelleuse","synonyms":["Syndrome OPHN1","Syndrome oligonéphrine-1"],"definition":"Le déficit intellectuel lié à l'X - hypoplasie cérébelleuse, aussi connu sous le nom de syndrome OPHN1, est une forme syndromique rare de dysgénésie cérébelleuse caractérisée par un déficit intellectuel allant de modéré à sévère et des anomalies cérébelleuses."},"de":{"name":"X-chromosomale Intelligenzminderung-zerebelläre Hypoplasie-Syndrom","synonyms":["OPHN1-Syndrom","Oligophrenin-1-Syndrom"],"definition":"Die X-chromosomale geistige Retardierung mit zerebellärer Hypoplasie, auch als OPHN1-Syndrom bezeichnet, ist eine seltene syndromale Form der zerebellären Dysgenesie mit mäßiger bis schwerer geistiger Behinderung und Anomalien des Kleinhirns."},"es":{"name":"Síndrome de discapacidad intelectual-hipoplasia cerebelosa ligado al cromosoma X","synonyms":["Síndrome OPHN1","Síndrome de oligofrenina 1"],"definition":"El déficit intelectual ligado al X - hipoplasia cerebelosa, también conocido como síndrome OPHN1, es una forma sindrómica poco frecuente de disgenesia cerebelosa que se caracteriza por un déficit intelectual de grado moderado a grave y anomalías cerebelosas."},"it":{"name":"Sindrome deficit cognitivo legato all'X-ipoplasia cerebellare","synonyms":["Sindrome OPHN1","Sindrome da oligofrenina-1"],"definition":"Il deficit cognitivo legato all'X-ipoplasia cerebellare, noto anche come sindrome OPHN1, è una forma sindromica rara di disgenesia cerebellare caratterizzata da deficit cognitivo moderato-grave e anomalie cerebellari."},"nl":{"name":"X-gebonden intellectuele achterstand - cerebellaire hypoplasie-syndroom","synonyms":["OPHN1-syndroom","Oligofrenine-1-syndroom"],"definition":"X-gebonden intellectueel defect - cerebellaire hypoplasie, ook bekend als OPHN1-syndroom, is een zeldzame syndromale vorm van cerebellaire dysgenesie gekenmerkt door een matige tot ernstige intellectuele achterstand en cerebellaire afwijkingen."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual ligada ao X-hipoplasia cerebelosa","synonyms":["Síndrome OPHN1","Síndrome oligofrenina-1"],"definition":"O défice intelectual ligado ao X - hipoplasia cerebelosa, também conhecido como síndrome OPHN1, é uma forma sindrómica rara de disgenesia cerebelosa caracterizada por um défice intelectal moderado a grave e anomalias no cerebelo."},"pl":{"name":"Niepełnosprawność intelektualna sprzężona z chromosomem - hipoplazja móżdżku","synonyms":["Zespół oligofreniny-1","Zespół OPHN1"]},"cs":{"name":"Syndrom zahrnující X-vázanou mentální retardaci a cerebelární hypoplázii","synonyms":["OPHN1 syndrom","Oligophrenin-1 syndrom"]},"uk":{"name":"Синдром Х-зчепленої розумової відсталості-гіпоплазії мозочка","synonyms":["Синдром олігофреніну-1","Синдром OPHN1"],"definition":"X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities."},"zh":{"name":"X连锁遗传智力障碍-小脑发育不全综合征","synonyms":["Oligophrenin-1综合征"],"definition":"X连锁智力缺陷-小脑发育不全，也称为OPHN1基因综合征，是一种小脑发育不全的罕见综合征，其特征是中重度智力缺陷和小脑异常。"},"tr":{"name":"X'e bağlı zihinsel yetersizlik-serebellar hipoplazi sendromu","synonyms":["OPHN1 sendromu","Oligophrenin-1 sendromu"]}},"xrefs":[{"source":"OMIM","code":"300486","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010337","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304937","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":166478,"name":"Cerebral malformation with epilepsy","classifications":[156,181]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":269567,"name":"Genetic syndrome with a cerebellar malformation as a major feature","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":269523,"name":"Syndrome with a cerebellar malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"OPHN1","name":"oligophrenin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20528889[PMID]","hgnc":"8148","ensembl":"ENSG00000079482","omim":"300127","loci":["Xq12"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"20528889[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20528889[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-09-25","source":"23622180[PMID]_20528889[PMID]_20301317[PMID]_23622180[PMID]","terms":[{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002384","label":"Focal impaired awareness seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002951","label":"Partial absence of cerebellar vermis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000817","label":"Reduced eye contact","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012760","label":"Reduced social responsiveness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0400000","label":"Tall chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006817","label":"Aplasia/Hypoplasia of the cerebellar vermis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002340","label":"Caudate atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002280","label":"Enlarged cisterna magna","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006913","label":"Frontal cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006951","label":"Retrocerebellar cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007112","label":"Temporal cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}