Mowat-Wilson syndrome due to a ZEB2 point mutation
ORPHA: 261552
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Mowat-Wilson syndrome due to a ZEB2 point mutation, sourced from HPO and Orphanet clinical annotations.
Intellectual disabilityAbsent speechAbnormal facial shapeExpressive language delayHappy demeanorUrinary incontinenceCryptorchidismHypospadiasAbnormality of the genitourinary systemThick lower lip vermilionOpen mouthMandibular prognathiaPointed chinShort philtrumPosteriorly rotated earsRecurrent otitis mediaWide nasal bridgeDepressed nasal tipConvex nasal ridgeDeeply set eyeTelecanthusAbnormality of the nervous systemMotor stereotypySeizureSpasticityAbnormal corpus callosum morphologyAgenesis of corpus callosumFailure to thriveAbnormal heart morphologyHypoplasia of the corpus callosumBroad-based gaitAganglionic megacolonEEG abnormalitySleep disturbanceBowel incontinenceShort statureSecondary microcephalyLateral ventricle dilatationPoor fine motor coordinationAtypical absence seizureFocal-onset seizureFloppy infantLow hanging columellaUplifted earlobeBroad eyebrowAbnormal hippocampus morphologyHypoplastic anterior commissureDelayed ability to walkMulticystic kidney dysplasiaRenal duplicationVesicoureteral refluxPelvic kidneyHydronephrosisGingival overgrowthHypertelorismAbnormality of the eyeRetinal colobomaMicrocorneaAstigmatismStrabismusVisual impairmentPtosisCataractAbnormality of refractionMyopiaMicrophthalmiaIris colobomaAbnormal pupil morphologyOptic atrophyDental crowdingDelayed eruption of teethTooth malpositionPectus excavatumPectus carinatumAbnormal posterior cranial fossa morphologyIris atrophySyndactylyArachnodactylyAdducted thumbHyperreflexiaFlexion contractureAxenfeld anomalyTetralogy of FallotAbnormal pulmonary valve morphologyPulmonic stenosisBicuspid aortic valveAortic valve stenosisCoarctation of aortaAspleniaPes planusHallux valgusLong halluxCalcaneovalgus deformityFrontal bossingConstipationPyloric stenosisInability to walkEpisodic vomitingScoliosisRecurrent infectionsDelayed skeletal maturationGenu valgumBruxismDecreased circulating immunoglobulin concentrationAbnormality of the pulmonary arteryAbnormal dental morphologyLarge basal gangliaImpaired pain sensationUlnar deviation of the handEctopia pupillaeBroad halluxLong toePrimary microcephalyCamptodactylyCerebral white matter hypoplasiaAbnormal jaw morphologyFocal hypointensity of cerebral white matter on MRIHydrocele testisChordeeBifid scrotumMicropenisCleft palateBifid uvulaEpicanthusSensorineural hearing impairmentSeptate vaginaCerebellar vermis hypoplasiaCerebellar hypoplasiaVentricular septal defectPatent ductus arteriosusDysphagiaPolymicrogyriaAgenesis of cerebellar vermisPoor speechHighly arched eyebrowTracheal stenosisPulmonary artery slingDuplication of renal pelvisChiari type I malformationPeriventricular heterotopiaConcave nasal ridgeRight unicoronal synostosisHyphemaEnlarged cerebellumWebbed penisCleft hard palateSubmucous cleft of soft and hard palate
Classification & Codes
Orphanet Code
ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutation
| Orphanet | ORPHA:261552 |
| Treatments | 0 drug(s) |
| Symptoms on record | 147 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO