raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:261552

Mowat-Wilson syndrome due to a ZEB2 point mutation

Synonyms: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation

Type
Etiological subtype
Group
Subtype of disorder
Inheritance
Autosomal dominant
Age of onset
Antenatal, Neonatal
Status
active

This disease is described under Mowat-Wilson syndrome

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enMowat-Wilson syndrome due to a ZEB2 point mutationHirschsprung disease and intellectual disability due to a ZEB2 point mutation
frSyndrome de Mowat-Wilson dû à une mutation ponctuelle de ZEB2Maladie de Hirschsprung et déficience intellectuelle dues à une mutation ponctuelle de ZEB2
deMowat-Wilson-Syndrom durch Punktmutationen im ZEB2-GenHirschsprung-Krankheit und Intelligenzminderung durch ZEB2-Genmutation
esSíndrome de Mowat-Wilson por una mutación puntual en el gen ZEB2Enfermedad de Hirschprung y discapacidad intelectual por una mutación puntual en el gen ZEB2
itSindrome di Mowat-Wilson da mutazione puntiforme di ZEB2Malattia di Hirschsprung e disabilità cognitiva, da mutazione puntiforme di ZEB2
nlSyndroom van Mowat-Wilson door een ZEB2-puntmutatieZiekte van Hirschsprung en intellectuele achterstand door een ZEB2-puntmutatie
ptSíndrome Mowat-Wilson por uma mutação pontual ZEB2Doença de Hirschsprung e perturbação do desenvolvimento intelectual por uma mutação pontual ZEB2
plZespół Mowata i Wilsona spowodowany mutacją punktową ZEB2Choroba Hirschsprunga i niepełnosprawność intelektualna spowodowane mutacją punktową ZEB2
csMowatův-Wilsonové syndrom způsobený ZEB2 bodovou mutacíHirschsprungova choroba a mentální retardace způsobená ZEB2 bodovou mutací · Mowat-Wilsonové syndrom způsobený ZEB2 bodovou mutací
ukСиндром Мовата-Вілсона, зумовлений точковою мутацією гена ZEB2Хвороба Гіршпрунга та розумова відсталість внаслідок мутації точки ZEB2
zhZEB2基因点突变所致Mowat-Wilson综合征ZEB2基因点突变所致Hirschsprung病和智力障碍
trZEB2 nokta mutasyonuna bağlı Mowat-Wilson sendromuHirschsprung hastalığı ve ZEB2 nokta mutasyonuna bağlı zihinsel yetersizlik
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM235730NTBTvalidated
ICD-10Q43.1NTBTattributedvalidated
ICD-11LD2F.1YNTBTattributedvalidated
MONDO0016856Evalidated
UMLSC5679681Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

  • ORPHA:2152Mowat-Wilson syndrome
    rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare abdominal surgical diseases; rare transplant-related disorders

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
ZEB2Disease-causing germline mutation(s) inAssessedHGNC:14881ENSG000001695546058022q22.3zinc finger E-box binding homeobox 220301585[PMID]
5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

147 annotations · validated 2020-06-11
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0001999Abnormal facial shape
HP:0001344Absent speech
HP:0002474Expressive language delay
HP:0040082Happy demeanor
HP:0001249Intellectual disability
Frequent (79-30%)
HP:0001273Abnormal corpus callosum morphology
HP:0001627Abnormal heart morphology
HP:0025100Abnormal hippocampus morphology
HP:0000733Abnormal repetitive mannerisms
HP:0000119Abnormality of the genitourinary system
HP:0000707Abnormality of the nervous system
HP:0002251Aganglionic megacolon
HP:0001274Agenesis of corpus callosum
HP:0007270Atypical absence seizure
HP:0002607Bowel incontinence
HP:0011229Broad eyebrow
HP:0002136Broad-based gait
HP:0000444Convex nasal ridge
HP:0000028Cryptorchidism
HP:0000490Deeply set eye
HP:0031936Delayed ability to walk
HP:0000437Depressed nasal tip
HP:0002353EEG abnormality
HP:0001508Failure to thrive
HP:0008947Floppy infant
HP:0007359Focal-onset seizure
HP:0002079Hypoplasia of the corpus callosum
HP:0030303Hypoplastic anterior commissure
HP:0000047Hypospadias
HP:0006956Lateral ventricle dilatation
HP:0009765Low hanging columella
HP:0000303Mandibular prognathia
HP:0000194Open mouth
HP:0000307Pointed chin
HP:0007010Poor fine motor coordination
HP:0000358Posteriorly rotated ears
HP:0000403Recurrent otitis media
HP:0005484Secondary microcephaly
HP:0001250Seizure
HP:0000322Short philtrum
HP:0004322Short stature
HP:0002360Sleep abnormality
HP:0001257Spasticity
HP:0000506Telecanthus
HP:0000179Thick lower lip vermilion
HP:0009909Uplifted earlobe
HP:0000020Urinary incontinence
HP:0000431Wide nasal bridge
Occasional (29-5%)
HP:0006482Abnormal dental morphology
HP:0030791Abnormal jaw morphology
HP:0001641Abnormal pulmonary valve morphology
HP:0000615Abnormal pupil morphology
HP:0000539Abnormality of refraction
HP:0000478Abnormality of the eye
HP:0000932Abnormality of the posterior cranial fossa
HP:0004414Abnormality of the pulmonary artery
HP:0001181Adducted thumb
HP:0001650Aortic valve stenosis
HP:0001166Arachnodactyly
HP:0001746Asplenia
HP:0000483Astigmatism
HP:0001492Axenfeld anomaly
HP:0001647Bicuspid aortic valve
HP:0010055Broad hallux
HP:0003763Bruxism
HP:0001848Calcaneovalgus deformity
HP:0012385Camptodactyly
HP:0000518Cataract
HP:0012430Cerebral white matter hypoplasia
HP:0001680Coarctation of aorta
HP:0002019Constipation
HP:0004313Decreased circulating antibody level
HP:0000684Delayed eruption of teeth
HP:0002750Delayed skeletal maturation
HP:0000678Dental crowding
HP:0009918Ectopia pupillae
HP:0002572Episodic vomiting
HP:0001371Flexion contracture
HP:0040331Focal hypointensity of cerebral white matter on MRI
HP:0002007Frontal bossing
HP:0002857Genu valgum
HP:0000212Gingival overgrowth
HP:0001822Hallux valgus
HP:0000126Hydronephrosis
HP:0001347Hyperreflexia
HP:0000316Hypertelorism
HP:0007328Impaired pain sensation
HP:0002540Inability to walk
HP:0001089Iris atrophy
HP:0000612Iris coloboma
HP:0007048Large basal ganglia
HP:0001847Long hallux
HP:0010511Long toe
HP:0000482Microcornea
HP:0000568Microphthalmia
HP:0000003Multicystic kidney dysplasia
HP:0000545Myopia
HP:0000648Optic atrophy
HP:0000768Pectus carinatum
HP:0000767Pectus excavatum
HP:0000125Pelvic kidney
HP:0001763Pes planus
HP:0011451Primary microcephaly
HP:0000508Ptosis
HP:0001642Pulmonic stenosis
HP:0002021Pyloric stenosis
HP:0002719Recurrent infections
HP:0000075Renal duplication
HP:0000480Retinal coloboma
HP:0002650Scoliosis
HP:0000486Strabismus
HP:0001159Syndactyly
HP:0001636Tetralogy of Fallot
HP:0000692Tooth malposition
HP:0009487Ulnar deviation of the hand
HP:0000076Vesicoureteral reflux
HP:0000505Visual impairment
Very rare (<4-1%)
HP:0002335Agenesis of cerebellar vermis
HP:0000048Bifid scrotum
HP:0000193Bifid uvula
HP:0001321Cerebellar hypoplasia
HP:0001320Cerebellar vermis hypoplasia
HP:0007099Chiari type I malformation
HP:0000041Chordee
HP:0410005Cleft hard palate
HP:0000175Cleft palate
HP:0011120Concave nasal ridge
HP:0005580Duplication of renal pelvis
HP:0002015Dysphagia
HP:0012081Enlarged cerebellum
HP:0000286Epicanthus
HP:0002553Highly arched eyebrow
HP:0000034Hydrocele testis
HP:0011886Hyphema
HP:0000054Micropenis
HP:0001643Patent ductus arteriosus
HP:0007165Periventricular heterotopia
HP:0002126Polymicrogyria
HP:0002465Poor speech
HP:0004961Pulmonary artery sling
HP:0011317Right unicoronal synostosis
HP:0000407Sensorineural hearing impairment
HP:0001153Septate vagina
HP:0410031Submucous cleft of soft and hard palate
HP:0002777Tracheal stenosis
HP:0001629Ventricular septal defect
HP:0030264Webbed penis

Run the differential on the 5 obligate / very frequent terms

Annotation source: 25899569[PMID]_20301585[PMID]_17932455[PMID]_27831545[PMID]

7

Sources for this card