22q11.2 duplication syndrome
ORPHA:1727Malformation syndromeAutosomal dominantAll ages
Ассоциированные гены1
Фенотипы (HPO)40
Частый (30–79%)15
HP:0000175Cleft palate
HP:0000275Narrow face
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000348High forehead
HP:0000457Depressed nasal ridge
HP:0000494Downslanted palpebral fissures
HP:0000600Abnormality of the pharynx
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001611Hypernasal speech
HP:0002167Abnormality of speech or vocalization
HP:0011800Midface retrusion
Периодический (5–29%)25
HP:0000126Hydronephrosis
HP:0000252Microcephaly
HP:0000319Smooth philtrum
HP:0000347Micrognathia
HP:0000365Hearing impairment
HP:0000445Wide nose
HP:0000508Ptosis
HP:0000717Autism
HP:0000722Compulsive behaviors
HP:0000733Abnormal repetitive mannerisms
HP:0000739Anxiety
HP:0001250Seizure
HP:0001510Growth delay
HP:0001629Ventricular septal defect
HP:0001636Tetralogy of Fallot
HP:0001669Transposition of the great arteries
HP:0002650Scoliosis
HP:0004383Hypoplastic left heart
HP:0007018Attention deficit hyperactivity disorder
HP:0008661Urethral stenosis
HP:0009908Anterior creases of earlobe
HP:0010515Aplasia/Hypoplasia of the thymus
HP:0010978Abnormality of immune system physiology
HP:0011611Interrupted aortic arch
HP:0100627Displacement of the urethral meatus
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 216 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)