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Mowat-Wilson syndrome due to a ZEB2 point mutation
ORPHA:261552 · Etiological subtype · Subtype of disorder
HPO 表現型（共 147 項）
Very frequent (99-80%)(5)
- Abnormal facial shapeHP:0001999
- Absent speechHP:0001344
- Expressive language delayHP:0002474
- Happy demeanorHP:0040082
- Intellectual disabilityHP:0001249
Frequent (79-30%)(43)
- Abnormal corpus callosum morphologyHP:0001273
- Abnormal heart morphologyHP:0001627
- Abnormal hippocampus morphologyHP:0025100
- Abnormality of the genitourinary systemHP:0000119
- Abnormality of the nervous systemHP:0000707
- Aganglionic megacolonHP:0002251
- Agenesis of corpus callosumHP:0001274
- Atypical absence seizureHP:0007270
- Bowel incontinenceHP:0002607
- Broad eyebrowHP:0011229
- Broad-based gaitHP:0002136
- Convex nasal ridgeHP:0000444
- CryptorchidismHP:0000028
- Deeply set eyeHP:0000490
- Delayed ability to walkHP:0031936
- Depressed nasal tipHP:0000437
- EEG abnormalityHP:0002353
- Failure to thriveHP:0001508
- Floppy infantHP:0008947
- Focal-onset seizureHP:0007359
- Hypoplasia of the corpus callosumHP:0002079
- Hypoplastic anterior commissureHP:0030303
- HypospadiasHP:0000047
- Lateral ventricle dilatationHP:0006956
- Low hanging columellaHP:0009765
- Mandibular prognathiaHP:0000303
- Motor stereotypyHP:0000733
- Open mouthHP:0000194
- Pointed chinHP:0000307
- Poor fine motor coordinationHP:0007010
- Posteriorly rotated earsHP:0000358
- Recurrent otitis mediaHP:0000403
- Secondary microcephalyHP:0005484
- SeizureHP:0001250
- Short philtrumHP:0000322
- Short statureHP:0004322
- Sleep disturbanceHP:0002360
- SpasticityHP:0001257
- TelecanthusHP:0000506
- Thick lower lip vermilionHP:0000179
- Uplifted earlobeHP:0009909
- Urinary incontinenceHP:0000020
- Wide nasal bridgeHP:0000431
Occasional (29-5%)(69)
- Abnormal dental morphologyHP:0006482
- Abnormal jaw morphologyHP:0030791
- Abnormal posterior cranial fossa morphologyHP:0000932
- Abnormal pulmonary valve morphologyHP:0001641
- Abnormal pupil morphologyHP:0000615
- Abnormality of refractionHP:0000539
- Abnormality of the eyeHP:0000478
- Abnormality of the pulmonary arteryHP:0004414
- Adducted thumbHP:0001181
- Aortic valve stenosisHP:0001650
- ArachnodactylyHP:0001166
- AspleniaHP:0001746
- AstigmatismHP:0000483
- Axenfeld anomalyHP:0001492
- Bicuspid aortic valveHP:0001647
- Broad halluxHP:0010055
- BruxismHP:0003763
- Calcaneovalgus deformityHP:0001848
- CamptodactylyHP:0012385
- CataractHP:0000518
- Cerebral white matter hypoplasiaHP:0012430
- Coarctation of aortaHP:0001680
- ConstipationHP:0002019
- Decreased circulating immunoglobulin concentrationHP:0004313
- Delayed eruption of teethHP:0000684
- Delayed skeletal maturationHP:0002750
- Dental crowdingHP:0000678
- Ectopia pupillaeHP:0009918
- Episodic vomitingHP:0002572
- Flexion contractureHP:0001371
- Focal hypointensity of cerebral white matter on MRIHP:0040331
- Frontal bossingHP:0002007
- Genu valgumHP:0002857
- Gingival overgrowthHP:0000212
- Hallux valgusHP:0001822
- HydronephrosisHP:0000126
- HyperreflexiaHP:0001347
- HypertelorismHP:0000316
- Impaired pain sensationHP:0007328
- Inability to walkHP:0002540
- Iris atrophyHP:0001089
- Iris colobomaHP:0000612
- Large basal gangliaHP:0007048
- Long halluxHP:0001847
- Long toeHP:0010511
- MicrocorneaHP:0000482
- MicrophthalmiaHP:0000568
- Multicystic kidney dysplasiaHP:0000003
- MyopiaHP:0000545
- Optic atrophyHP:0000648
- Pectus carinatumHP:0000768
- Pectus excavatumHP:0000767
- Pelvic kidneyHP:0000125
- Pes planusHP:0001763
- Primary microcephalyHP:0011451
- PtosisHP:0000508
- Pulmonic stenosisHP:0001642
- Pyloric stenosisHP:0002021
- Recurrent infectionsHP:0002719
- Renal duplicationHP:0000075
- Retinal colobomaHP:0000480
- ScoliosisHP:0002650
- StrabismusHP:0000486
- SyndactylyHP:0001159
- Tetralogy of FallotHP:0001636
- Tooth malpositionHP:0000692
- Ulnar deviation of the handHP:0009487
- Vesicoureteral refluxHP:0000076
- Visual impairmentHP:0000505
Very rare (<4-1%)(30)
- Agenesis of cerebellar vermisHP:0002335
- Bifid scrotumHP:0000048
- Bifid uvulaHP:0000193
- Cerebellar hypoplasiaHP:0001321
- Cerebellar vermis hypoplasiaHP:0001320
- Chiari type I malformationHP:0007099
- ChordeeHP:0000041
- Cleft hard palateHP:0410005
- Cleft palateHP:0000175
- Concave nasal ridgeHP:0011120
- Duplication of renal pelvisHP:0005580
- DysphagiaHP:0002015
- Enlarged cerebellumHP:0012081
- EpicanthusHP:0000286
- Highly arched eyebrowHP:0002553
- Hydrocele testisHP:0000034
- HyphemaHP:0011886
- MicropenisHP:0000054
- Patent ductus arteriosusHP:0001643
- Periventricular heterotopiaHP:0007165
- PolymicrogyriaHP:0002126
- Poor speechHP:0002465
- Pulmonary artery slingHP:0004961
- Right unicoronal synostosisHP:0011317
- Sensorineural hearing impairmentHP:0000407
- Septate vaginaHP:0001153
- Submucous cleft of soft and hard palateHP:0410031
- Tracheal stenosisHP:0002777
- Ventricular septal defectHP:0001629
- Webbed penisHP:0030264