{"orpha":261552,"name":"Mowat-Wilson syndrome due to a ZEB2 point mutation","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Hirschsprung disease and intellectual disability due to a ZEB2 point mutation"],"definition":null,"note":"This disease is described under Mowat-Wilson syndrome","url":"https://raremap.alftech.space/d/ORPHA-261552/","orphanet_url":"https://www.orpha.net/en/disease/detail/261552","names":{"fr":{"name":"Syndrome de Mowat-Wilson dû à une mutation ponctuelle de ZEB2","synonyms":["Maladie de Hirschsprung et déficience intellectuelle dues à une mutation ponctuelle de ZEB2"]},"de":{"name":"Mowat-Wilson-Syndrom durch Punktmutationen im ZEB2-Gen","synonyms":["Hirschsprung-Krankheit und Intelligenzminderung durch ZEB2-Genmutation"]},"es":{"name":"Síndrome de Mowat-Wilson por una mutación puntual en el gen ZEB2","synonyms":["Enfermedad de Hirschprung y discapacidad intelectual por una mutación puntual en el gen ZEB2"]},"it":{"name":"Sindrome di Mowat-Wilson da mutazione puntiforme di ZEB2","synonyms":["Malattia di Hirschsprung e disabilità cognitiva, da mutazione puntiforme di ZEB2"]},"nl":{"name":"Syndroom van Mowat-Wilson door een ZEB2-puntmutatie","synonyms":["Ziekte van Hirschsprung en intellectuele achterstand door een ZEB2-puntmutatie"]},"pt":{"name":"Síndrome Mowat-Wilson por uma mutação pontual ZEB2","synonyms":["Doença de Hirschsprung e perturbação do desenvolvimento intelectual por uma mutação pontual ZEB2"]},"pl":{"name":"Zespół Mowata i Wilsona spowodowany mutacją punktową ZEB2","synonyms":["Choroba Hirschsprunga i niepełnosprawność intelektualna spowodowane mutacją punktową ZEB2"]},"cs":{"name":"Mowatův-Wilsonové syndrom způsobený ZEB2 bodovou mutací","synonyms":["Hirschsprungova choroba a mentální retardace způsobená ZEB2 bodovou mutací","Mowat-Wilsonové syndrom způsobený ZEB2 bodovou mutací"]},"uk":{"name":"Синдром Мовата-Вілсона, зумовлений точковою мутацією гена ZEB2","synonyms":["Хвороба Гіршпрунга та розумова відсталість внаслідок мутації точки ZEB2"]},"zh":{"name":"ZEB2基因点突变所致Mowat-Wilson综合征","synonyms":["ZEB2基因点突变所致Hirschsprung病和智力障碍"]},"tr":{"name":"ZEB2 nokta mutasyonuna bağlı Mowat-Wilson sendromu","synonyms":["Hirschsprung hastalığı ve ZEB2 nokta mutasyonuna bağlı zihinsel yetersizlik"]}},"xrefs":[{"source":"OMIM","code":"235730","qualifier":"NTBT","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":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0016856","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679681","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2152,"name":"Mowat-Wilson syndrome","classifications":[147,156,181,182,233]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-11","source":"25899569[PMID]_20301585[PMID]_17932455[PMID]_27831545[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002474","label":"Expressive language delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040082","label":"Happy demeanor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025100","label":"Abnormal hippocampus morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","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:0007270","label":"Atypical absence seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002607","label":"Bowel incontinence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011229","label":"Broad eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","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:0000437","label":"Depressed nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030303","label":"Hypoplastic anterior commissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006956","label":"Lateral ventricle dilatation","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:0000194","label":"Open mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005484","label":"Secondary microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","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:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","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: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:0006482","label":"Abnormal dental morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030791","label":"Abnormal jaw morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001641","label":"Abnormal pulmonary valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000615","label":"Abnormal pupil morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000539","label":"Abnormality of refraction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000932","label":"Abnormality of the posterior cranial fossa","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004414","label":"Abnormality of the pulmonary artery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001181","label":"Adducted thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","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: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:0010055","label":"Broad hallux","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:0012385","label":"Camptodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012430","label":"Cerebral white matter hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","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:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009918","label":"Ectopia pupillae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002572","label":"Episodic vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040331","label":"Focal hypointensity of cerebral white matter on MRI","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001089","label":"Iris atrophy","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:0001847","label":"Long hallux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010511","label":"Long toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","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:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000125","label":"Pelvic kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011451","label":"Primary microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","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:0000075","label":"Renal duplication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000480","label":"Retinal coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001159","label":"Syndactyly","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:0009487","label":"Ulnar deviation of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002335","label":"Agenesis of cerebellar vermis","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:0001321","label":"Cerebellar hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007099","label":"Chiari type I malformation","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:0011120","label":"Concave nasal ridge","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005580","label":"Duplication of renal pelvis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012081","label":"Enlarged cerebellum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000034","label":"Hydrocele testis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011886","label":"Hyphema","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007165","label":"Periventricular heterotopia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004961","label":"Pulmonary artery sling","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011317","label":"Right unicoronal synostosis","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:0001629","label":"Ventricular septal defect","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030264","label":"Webbed penis","frequency":"Very rare (<4-1%)","criteria":null}]}}