Mowat-Wilson syndrome
ORPHA:2152Malformation syndromeAutosomal dominantAntenatal, Neonatal
Фенотипы (HPO)140
Частый (30–79%)61
HP:0031936Delayed ability to walk
HP:0040082Happy demeanor
HP:0000047Hypospadias
HP:0000179Thick lower lip vermilion
HP:0000194Open mouth
HP:0000232Everted lower lip vermilion
HP:0000252Microcephaly
HP:0000276Long face
HP:0000303Mandibular prognathia
HP:0000307Pointed chin
HP:0000316Hypertelorism
HP:0000358Posteriorly rotated ears
HP:0000403Recurrent otitis media
HP:0000431Wide nasal bridge
HP:0000437Depressed nasal tip
HP:0000486Strabismus
HP:0000490Deeply set eye
HP:0000506Telecanthus
HP:0000733Abnormal repetitive mannerisms
HP:0000767Pectus excavatum
HP:0000768Pectus carinatum
HP:0001159Syndactyly
HP:0001250Seizure
HP:0001274Agenesis of corpus callosum
HP:0001371Flexion contracture
HP:0001510Growth delay
HP:0001627Abnormal heart morphology
HP:0001643Patent ductus arteriosus
HP:0001671Abnormal cardiac septum morphology
HP:0001763Pes planus
HP:0001822Hallux valgus
HP:0002011Morphological central nervous system abnormality
HP:0002079Hypoplasia of the corpus callosum
HP:0002136Broad-based gait
HP:0002251Aganglionic megacolon
HP:0002342Intellectual disability, moderate
HP:0002360Sleep abnormality
HP:0002427Motor aphasia
HP:0002607Bowel incontinence
HP:0002650Scoliosis
HP:0002750Delayed skeletal maturation
HP:0002857Genu valgum
HP:0004322Short stature
HP:0004325Decreased body weight
HP:0005274Prominent nasal tip
HP:0007328Impaired pain sensation
HP:0009487Ulnar deviation of the hand
HP:0009765Low hanging columella
HP:0009909Uplifted earlobe
HP:0010055Broad hallux
HP:0010511Long toe
HP:0010761Broad columella
HP:0010845EEG with generalized slow activity
HP:0010862Delayed fine motor development
HP:0010864Intellectual disability, severe
HP:0011228Horizontal eyebrow
HP:0011229Broad eyebrow
HP:0012385Camptodactyly
HP:0012758Neurodevelopmental delay
HP:0000020Urinary incontinence
HP:0000028Cryptorchidism
Периодический (5–29%)62
HP:0012760Reduced social responsiveness
HP:0000003Multicystic kidney dysplasia
HP:0000075Renal duplication
HP:0000076Vesicoureteral reflux
HP:0000077Abnormality of the kidney
HP:0000125Pelvic kidney
HP:0000126Hydronephrosis
HP:0000212Gingival overgrowth
HP:0000405Conductive hearing impairment
HP:0000478Abnormality of the eye
HP:0000480Retinal coloboma
HP:0000483Astigmatism
HP:0000518Cataract
HP:0000545Myopia
HP:0000568Microphthalmia
HP:0000612Iris coloboma
HP:0000639Nystagmus
HP:0000678Dental crowding
HP:0000684Delayed eruption of teeth
HP:0000687Widely spaced teeth
HP:0000692Tooth malposition
HP:0000739Anxiety
HP:0001181Adducted thumb
HP:0001182Tapered finger
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001257Spasticity
HP:0001320Cerebellar vermis hypoplasia
HP:0001492Axenfeld anomaly
HP:0001636Tetralogy of Fallot
HP:0001642Pulmonic stenosis
HP:0001647Bicuspid aortic valve
HP:0001650Aortic valve stenosis
HP:0001680Coarctation of aorta
HP:0001746Asplenia
HP:0001848Calcaneovalgus deformity
HP:0002013Vomiting
HP:0002019Constipation
HP:0002021Pyloric stenosis
HP:0002119Ventriculomegaly
HP:0002126Polymicrogyria
HP:0002133Status epilepticus
HP:0002335Agenesis of cerebellar vermis
HP:0002376Developmental regression
HP:0002500Abnormal cerebral white matter morphology
HP:0002540Inability to walk
HP:0002579Gastrointestinal dysmotility
HP:0002719Recurrent infections
HP:0003763Bruxism
HP:0004313Decreased circulating antibody level
HP:0004387Enterocolitis
HP:0006482Abnormal dental morphology
HP:0007042Focal white matter lesions
HP:0007048Large basal ganglia
HP:0007165Periventricular heterotopia
HP:0007270Atypical absence seizure
HP:0007359Focal-onset seizure
HP:0010850EEG with spike-wave complexes
HP:0012081Enlarged cerebellum
HP:0025100Abnormal hippocampus morphology
HP:0025156Dependency on intravenous nutrition
HP:0032046Focal cortical dysplasia
Очень редкий (1–4%)17
HP:0000034Hydrocele testis
HP:0000041Chordee
HP:0000048Bifid scrotum
HP:0000054Micropenis
HP:0000175Cleft palate
HP:0000193Bifid uvula
HP:0000407Sensorineural hearing impairment
HP:0000876Oligomenorrhea
HP:0001153Septate vagina
HP:0002015Dysphagia
HP:0002757Recurrent fractures
HP:0002777Tracheal stenosis
HP:0004961Pulmonary artery sling
HP:0011326Anterior plagiocephaly
HP:0030264Webbed penis
HP:0410005Cleft hard palate
HP:0410031Submucous cleft of soft and hard palate
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 100 000 | 1.7 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)