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Mowat-Wilson syndrome

ORPHA:2152 · Malformation syndrome · Disorder

HPO 表現型（共 140 項）

Frequent (79-30%)(61)

  • Abnormal cardiac septum morphologyHP:0001671
  • Abnormal heart morphologyHP:0001627
  • Aganglionic megacolonHP:0002251
  • Agenesis of corpus callosumHP:0001274
  • Bowel incontinenceHP:0002607
  • Broad columellaHP:0010761
  • Broad eyebrowHP:0011229
  • Broad halluxHP:0010055
  • Broad-based gaitHP:0002136
  • CamptodactylyHP:0012385
  • CryptorchidismHP:0000028
  • Decreased body weightHP:0004325
  • Deeply set eyeHP:0000490
  • Delayed ability to walkHP:0031936
  • Delayed fine motor developmentHP:0010862
  • Delayed skeletal maturationHP:0002750
  • Depressed nasal tipHP:0000437
  • EEG with generalized slow activityHP:0010845
  • Everted lower lip vermilionHP:0000232
  • Expressive aphasiaHP:0002427
  • Flexion contractureHP:0001371
  • Genu valgumHP:0002857
  • Growth delayHP:0001510
  • Hallux valgusHP:0001822
  • Happy demeanorHP:0040082
  • Horizontal eyebrowHP:0011228
  • HypertelorismHP:0000316
  • Hypoplasia of the corpus callosumHP:0002079
  • HypospadiasHP:0000047
  • Impaired pain sensationHP:0007328
  • Long faceHP:0000276
  • Long toeHP:0010511
  • Low hanging columellaHP:0009765
  • Mandibular prognathiaHP:0000303
  • MicrocephalyHP:0000252
  • Moderate intellectual disabilityHP:0002342
  • Morphological central nervous system abnormalityHP:0002011
  • Motor stereotypyHP:0000733
  • Neurodevelopmental delayHP:0012758
  • Open mouthHP:0000194
  • Patent ductus arteriosusHP:0001643
  • Pectus carinatumHP:0000768
  • Pectus excavatumHP:0000767
  • Pes planusHP:0001763
  • Pointed chinHP:0000307
  • Posteriorly rotated earsHP:0000358
  • Prominent nasal tipHP:0005274
  • Recurrent otitis mediaHP:0000403
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Severe intellectual disabilityHP:0010864
  • Short statureHP:0004322
  • Sleep disturbanceHP:0002360
  • StrabismusHP:0000486
  • SyndactylyHP:0001159
  • TelecanthusHP:0000506
  • Thick lower lip vermilionHP:0000179
  • Ulnar deviation of the handHP:0009487
  • Uplifted earlobeHP:0009909
  • Urinary incontinenceHP:0000020
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(62)

  • Abnormal cerebral white matter morphologyHP:0002500
  • Abnormal dental morphologyHP:0006482
  • Abnormal hippocampus morphologyHP:0025100
  • Abnormality of the eyeHP:0000478
  • Abnormality of the kidneyHP:0000077
  • Adducted thumbHP:0001181
  • Agenesis of cerebellar vermisHP:0002335
  • AnxietyHP:0000739
  • Aortic valve stenosisHP:0001650
  • AspleniaHP:0001746
  • AstigmatismHP:0000483
  • AtaxiaHP:0001251
  • Atypical absence seizureHP:0007270
  • Axenfeld anomalyHP:0001492
  • Bicuspid aortic valveHP:0001647
  • BruxismHP:0003763
  • Calcaneovalgus deformityHP:0001848
  • CataractHP:0000518
  • Cerebellar vermis hypoplasiaHP:0001320
  • Coarctation of aortaHP:0001680
  • Conductive hearing impairmentHP:0000405
  • ConstipationHP:0002019
  • Decreased circulating immunoglobulin concentrationHP:0004313
  • Delayed eruption of teethHP:0000684
  • Dental crowdingHP:0000678
  • Dependency on intravenous nutritionHP:0025156
  • Developmental regressionHP:0002376
  • EEG with spike-wave complexesHP:0010850
  • Enlarged cerebellumHP:0012081
  • EnterocolitisHP:0004387
  • Focal cortical dysplasiaHP:0032046
  • Focal white matter lesionsHP:0007042
  • Focal-onset seizureHP:0007359
  • Gastrointestinal dysmotilityHP:0002579
  • Gingival overgrowthHP:0000212
  • HydronephrosisHP:0000126
  • HypotoniaHP:0001252
  • Inability to walkHP:0002540
  • Iris colobomaHP:0000612
  • Large basal gangliaHP:0007048
  • MicrophthalmiaHP:0000568
  • Multicystic kidney dysplasiaHP:0000003
  • MyopiaHP:0000545
  • NystagmusHP:0000639
  • Pelvic kidneyHP:0000125
  • Periventricular heterotopiaHP:0007165
  • PolymicrogyriaHP:0002126
  • Pulmonic stenosisHP:0001642
  • Pyloric stenosisHP:0002021
  • Recurrent infectionsHP:0002719
  • Reduced social responsivenessHP:0012760
  • Renal duplicationHP:0000075
  • Retinal colobomaHP:0000480
  • SpasticityHP:0001257
  • Status epilepticusHP:0002133
  • Tapered fingerHP:0001182
  • Tetralogy of FallotHP:0001636
  • Tooth malpositionHP:0000692
  • VentriculomegalyHP:0002119
  • Vesicoureteral refluxHP:0000076
  • VomitingHP:0002013
  • Widely spaced teethHP:0000687

Very rare (<4-1%)(17)

  • Anterior plagiocephalyHP:0011326
  • Bifid scrotumHP:0000048
  • Bifid uvulaHP:0000193
  • ChordeeHP:0000041
  • Cleft hard palateHP:0410005
  • Cleft palateHP:0000175
  • DysphagiaHP:0002015
  • Hydrocele testisHP:0000034
  • MicropenisHP:0000054
  • OligomenorrheaHP:0000876
  • Pulmonary artery slingHP:0004961
  • Recurrent fracturesHP:0002757
  • Sensorineural hearing impairmentHP:0000407
  • Septate vaginaHP:0001153
  • Submucous cleft of soft and hard palateHP:0410031
  • Tracheal stenosisHP:0002777
  • Webbed penisHP:0030264