Mowat-Wilson syndrome due to monosomy 2q22

ORPHA:261537 · Etiological subtype · Subtype of disorder

HPO 表現型（共 127 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%)(41)

Abnormal corpus callosum morphologyHP:0001273
Abnormal heart morphologyHP:0001627
Abnormal hippocampus morphologyHP:0025100
Abnormality of the genitourinary systemHP:0000119
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
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%)(58)

Abnormal dental morphologyHP:0006482
Abnormal posterior cranial fossa morphologyHP:0000932
Abnormal pulmonary valve morphologyHP:0001641
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
Episodic vomitingHP:0002572
Flexion contractureHP:0001371
Focal hypointensity of cerebral white matter on MRIHP:0040331
Genu valgumHP:0002857
Gingival overgrowthHP:0000212
Hallux valgusHP:0001822
HydronephrosisHP:0000126
HypertelorismHP:0000316
Impaired pain sensationHP:0007328
Inability to walkHP:0002540
Iris colobomaHP:0000612
Large basal gangliaHP:0007048
Long halluxHP:0001847
Long toeHP:0010511
MicrophthalmiaHP:0000568
Multicystic kidney dysplasiaHP:0000003
MyopiaHP:0000545
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

Very rare (<4-1%)(23)

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
DysphagiaHP:0002015
Enlarged cerebellumHP:0012081
Hydrocele testisHP:0000034
MicropenisHP:0000054
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
Webbed penisHP:0030264