{"orpha":2152,"name":"Mowat-Wilson syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Hirschsprung disease-intellectual disability syndrome"],"definition":"A rare multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2152/","orphanet_url":"https://www.orpha.net/en/disease/detail/2152","names":{"fr":{"name":"Syndrome de Mowat-Wilson","synonyms":["Syndrome de maladie de Hirschsprung-déficience intellectuelle"],"definition":"Syndrome rare d'anomalie congénitale multiple caractérisé par un phénotype facial distinct, une déficience intellectuelle, une épilepsie, une maladie de Hirschsprung (HSCR) et des malformations congénitales variables."},"de":{"name":"Mowat-Wilson-Syndrom","synonyms":["Hirschsprung-Krankheit-Intelligenzminderung-Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien, das durch einen ausgeprägten fazialen Phänotyp, Intelligenzminderung, Epilepsie, Morbus Hirschsprung (HSCR) und variable kongenitale Fehlbildungen gekennzeichnet ist."},"es":{"name":"Síndrome de Mowat-Wilson","synonyms":["Síndrome de enfermedad de Hirschsprung-discapacidad intelectual"],"definition":"Es un síndrome de múltiples anomalías congénitas poco frecuente caracterizado por un fenotipo facial distintivo, discapacidad intelectual, crisis epilépticas, enfermedad de Hirschsprung (EH) y malformaciones congénitas variables."},"it":{"name":"Sindrome di Mowat-Wilson","synonyms":["Malattia di Hirschsprung - disabilità cognitiva"],"definition":"La sindrome di Mowat-Wilson (MWS) è una malattia rara da anomalie congenite multiple, caratterizzata da dismorfismi facciali caratteristici, disabilità intellettiva, epilessia, malattia di Hirschsprung (HSCR) e malformazioni congenite variabili."},"nl":{"name":"Syndroom van Mowat-Wilson","synonyms":["Ziekte van Hirschsprung - intellectuele achterstand-syndroom"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën, gekarakteriseerd door een kenmerkend fenotype van aangezicht, intellectuele achterstand, epilepsie, ziekte van Hirschsprung, en variabele congenitale malformaties."},"pt":{"name":"Síndrome Mowat-Wilson","synonyms":["Síndrome de Hirschsprung-perturbação do desenvolvimento intelectual"]},"pl":{"name":"Zespół Mowata i Wilsona","synonyms":["Choroba Hirschsprunga - niepełnosprawność intelektualna"]},"cs":{"name":"Mowatův-Wilsonové syndrom","synonyms":["Syndrom zahrnující Hirschsprungovu chorobu a mentální retardaci","Mowat-Wilsonové syndrom"]},"uk":{"name":"Синдром Мовата-Вілсона","synonyms":["Хвороба Гіршпрунга з інтелектуальною недостатністю"],"definition":"A rare multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations."},"zh":{"name":"Mowat-Wilson综合征","synonyms":["多毛症-智力障碍综合征"]},"tr":{"name":"Mowat-Wilson sendromu","synonyms":["Hirschsprung hastalığı-zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"235730","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q43.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1985672762"},{"source":"MONDO","code":"0009341","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536990","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856113","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9673","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":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":557866,"name":"Rare disorder with Hirschsprung disease as a major feature","classifications":[147,156,182,233]}],"children":[{"orpha":261552,"name":"Mowat-Wilson syndrome due to a ZEB2 point mutation","type":"Etiological subtype"},{"orpha":261537,"name":"Mowat-Wilson syndrome due to monosomy 2q22","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"ZEB2","name":"zinc finger E-box binding homeobox 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301585[PMID]","hgnc":"14881","ensembl":"ENSG00000169554","omim":"605802","loci":["2q22.3"],"via":{"orpha":261552,"name":"Mowat-Wilson syndrome due to a ZEB2 point mutation"}},{"symbol":"ZEB2","name":"zinc finger E-box binding homeobox 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20301585[PMID]","hgnc":"14881","ensembl":"ENSG00000169554","omim":"605802","loci":["2q22.3"],"via":{"orpha":261537,"name":"Mowat-Wilson syndrome due to monosomy 2q22"}}],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"35646055[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.7,"area":"Europe","status":"Validated","source":"21343952[PMID]_20301585[PMID]_ ISBN:470191414[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-04-15","source":"20301585[PMID]","terms":[{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002607","label":"Bowel incontinence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010761","label":"Broad columella","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011229","label":"Broad eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010055","label":"Broad hallux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004325","label":"Decreased body weight","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031936","label":"Delayed ability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010862","label":"Delayed fine motor development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000437","label":"Depressed nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010845","label":"EEG with generalized slow activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040082","label":"Happy demeanor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011228","label":"Horizontal eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","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:0000276","label":"Long face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010511","label":"Long toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009765","label":"Low hanging columella","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002011","label":"Morphological central nervous system abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002427","label":"Motor aphasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005274","label":"Prominent nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","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:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001159","label":"Syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009487","label":"Ulnar deviation of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009909","label":"Uplifted earlobe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025100","label":"Abnormal hippocampus morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001181","label":"Adducted thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002335","label":"Agenesis of cerebellar vermis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001746","label":"Asplenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007270","label":"Atypical absence seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001492","label":"Axenfeld anomaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003763","label":"Bruxism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001848","label":"Calcaneovalgus deformity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025156","label":"Dependency on intravenous nutrition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010850","label":"EEG with spike-wave complexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012081","label":"Enlarged cerebellum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004387","label":"Enterocolitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032046","label":"Focal cortical dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007042","label":"Focal white matter lesions","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002579","label":"Gastrointestinal dysmotility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007048","label":"Large basal ganglia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000125","label":"Pelvic kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007165","label":"Periventricular heterotopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012760","label":"Reduced social responsiveness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000075","label":"Renal duplication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000480","label":"Retinal coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000692","label":"Tooth malposition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000687","label":"Widely spaced teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011326","label":"Anterior plagiocephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000041","label":"Chordee","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0410005","label":"Cleft hard palate","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000034","label":"Hydrocele testis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000876","label":"Oligomenorrhea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004961","label":"Pulmonary artery sling","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001153","label":"Septate vagina","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0410031","label":"Submucous cleft of soft and hard palate","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002777","label":"Tracheal stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030264","label":"Webbed penis","frequency":"Very rare (<4-1%)","criteria":null}]}}