{"orpha":576283,"name":"SATB2-associated syndrome due to a pathogenic variant","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["SATB2-associated syndrome due to a point mutation"],"definition":null,"note":"This disease is described under SATB2-associated syndrome","url":"https://raremap.alftech.space/d/ORPHA-576283/","orphanet_url":"https://www.orpha.net/en/disease/detail/576283","names":{"fr":{"name":"Syndrome associé à SATB2 dû à un variant pathogène","synonyms":["Syndrome associé à SATB2 dû à une mutation ponctuelle"]},"de":{"name":"SATB2-assoziiertes Syndrom durch eine pathogene Variante"},"es":{"name":"Síndrome asociado a una variante patogénica del gen SATB2","synonyms":["Síndrome por una mutación puntual en el gen SATB2"]},"it":{"name":"Malattia correlata a SATB2 da mutazione patogenetica","synonyms":["Malattia correlata a SATB2 da mutazione puntiforme"]},"nl":{"name":"SATB2-geassocieerd syndroom door een pathogene variant","synonyms":["SATB2-geassocieerd syndroom door een puntmutatie"]},"pt":{"name":"Síndrome SATB2-associada devido a variante patogénica","synonyms":["Síndrome Glass","Síndrome SATB2-associada por mutação pontual"]},"pl":{"name":"Zespół związany z patogennym wariantem SATB2","synonyms":["SATB2-associated syndrome due to a point mutation"]},"cs":{"name":"Syndrom spojený s SATB2 způsobený patogenní variantou","synonyms":["SATB2-associated syndrome due to a point mutation"]},"uk":{"name":"SATB2-асоційований синдром, зумовлений патогенним варіантом","synonyms":["SATB2-асоційований синдром внаслідок точкової мутації"]},"zh":{"name":"致病变异所致SATB2基因相关综合征","synonyms":["点突变所致SATB2基因相关综合征"]},"tr":{"name":"Patojenik varyant nedeniyle SATB2-ilişkili sendrom","synonyms":["Bir nokta mutasyonuna bağlı SATB2-ilişkili sendrom"]}},"xrefs":[{"source":"OMIM","code":"612313","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C5680358","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":576278,"name":"SATB2-associated syndrome","classifications":[147,156,181,197,200,209]}],"children":[],"genes":[{"symbol":"SATB2","name":"SATB homeobox 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29023086[PMID]_31021519[PMID]","hgnc":"21637","ensembl":"ENSG00000119042","omim":"608148","loci":["2q33.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-11-19","source":"28139846[PMID]_ 28139846[PMID]_ 28139846[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","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:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040082","label":"Happy demeanor","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:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100886","label":"Abnormality of globe location","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000951","label":"Abnormality of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002608","label":"Celiac disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011147","label":"Typical absence seizure","frequency":"Occasional (29-5%)","criteria":null}]}}