Mowat-Wilson syndrome due to monosomy 2q22
ORPHA:261537Etiological subtypeAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)127
Очень частый (80–99%)5
HP:0001249Intellectual disability
HP:0001344Absent speech
HP:0001999Abnormal facial shape
HP:0002474Expressive language delay
HP:0040082Happy demeanor
Частый (30–79%)41
HP:0000020Urinary incontinence
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000119Abnormality of the genitourinary system
HP:0000179Thick lower lip vermilion
HP:0000194Open mouth
HP:0000303Mandibular prognathia
HP:0000307Pointed chin
HP:0000322Short philtrum
HP:0000358Posteriorly rotated ears
HP:0000403Recurrent otitis media
HP:0000431Wide nasal bridge
HP:0000437Depressed nasal tip
HP:0000444Convex nasal ridge
HP:0000490Deeply set eye
HP:0000506Telecanthus
HP:0000733Abnormal repetitive mannerisms
HP:0001250Seizure
HP:0001257Spasticity
HP:0001273Abnormal corpus callosum morphology
HP:0001274Agenesis of corpus callosum
HP:0001508Failure to thrive
HP:0001627Abnormal heart morphology
HP:0002079Hypoplasia of the corpus callosum
HP:0002136Broad-based gait
HP:0002251Aganglionic megacolon
HP:0002353EEG abnormality
HP:0002360Sleep abnormality
HP:0002607Bowel incontinence
HP:0004322Short stature
HP:0005484Secondary microcephaly
HP:0006956Dilation of lateral ventricles
HP:0007010Poor fine motor coordination
HP:0007270Atypical absence seizure
HP:0007359Focal-onset seizure
HP:0008947Floppy infant
HP:0009765Low hanging columella
HP:0009909Uplifted earlobe
HP:0011229Broad eyebrow
HP:0025100Abnormal hippocampus morphology
HP:0031936Delayed ability to walk
Периодический (5–29%)58
HP:0000003Multicystic kidney dysplasia
HP:0000075Renal duplication
HP:0000076Vesicoureteral reflux
HP:0000125Pelvic kidney
HP:0000126Hydronephrosis
HP:0000212Gingival overgrowth
HP:0000316Hypertelorism
HP:0000480Retinal coloboma
HP:0000483Astigmatism
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000518Cataract
HP:0000545Myopia
HP:0000568Microphthalmia
HP:0000612Iris coloboma
HP:0000678Dental crowding
HP:0000684Delayed eruption of teeth
HP:0000692Tooth malposition
HP:0000767Pectus excavatum
HP:0000768Pectus carinatum
HP:0000932Abnormality of the posterior cranial fossa
HP:0001159Syndactyly
HP:0001166Arachnodactyly
HP:0001181Adducted thumb
HP:0001371Flexion contracture
HP:0001492Axenfeld anomaly
HP:0001636Tetralogy of Fallot
HP:0001641Abnormal pulmonary valve morphology
HP:0001642Pulmonic stenosis
HP:0001647Bicuspid aortic valve
HP:0001650Aortic valve stenosis
HP:0001680Coarctation of aorta
HP:0001746Asplenia
HP:0001763Pes planus
HP:0001822Hallux valgus
HP:0001847Long hallux
HP:0001848Calcaneovalgus deformity
HP:0002019Constipation
HP:0002021Pyloric stenosis
HP:0002540Inability to walk
HP:0002572Episodic vomiting
HP:0002650Scoliosis
HP:0002719Recurrent infections
HP:0002750Delayed skeletal maturation
HP:0002857Genu valgum
HP:0003763Bruxism
HP:0004313Decreased circulating antibody level
HP:0004414Abnormality of the pulmonary artery
HP:0006482Abnormal dental morphology
HP:0007048Large basal ganglia
HP:0007328Impaired pain sensation
HP:0009487Ulnar deviation of the hand
HP:0010055Broad hallux
HP:0010511Long toe
HP:0011451Congenital microcephaly
HP:0012385Camptodactyly
HP:0012430Cerebral white matter hypoplasia
HP:0040331Focal hypointensity of cerebral white matter on MRI
Очень редкий (1–4%)23
HP:0000034Hydrocele testis
HP:0000041Chordee
HP:0000048Bifid scrotum
HP:0000054Micropenis
HP:0000175Cleft palate
HP:0000193Bifid uvula
HP:0000407Sensorineural hearing impairment
HP:0001153Septate vagina
HP:0001320Cerebellar vermis hypoplasia
HP:0001321Cerebellar hypoplasia
HP:0002015Dysphagia
HP:0002126Polymicrogyria
HP:0002335Agenesis of cerebellar vermis
HP:0002465Poor speech
HP:0002777Tracheal stenosis
HP:0004961Pulmonary artery sling
HP:0007099Chiari type I malformation
HP:0007165Periventricular heterotopia
HP:0011317Right unicoronal synostosis
HP:0012081Enlarged cerebellum
HP:0030264Webbed penis
HP:0410005Cleft hard palate
HP:0410031Submucous cleft of soft and hard palate
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)