Xp22.13p22.2 duplication syndrome
ORPHA:284180Malformation syndromeX-linked recessiveInfancy, Neonatal
Фенотипы (HPO)34
Очень частый (80–99%)24
HP:0000053Macroorchidism
HP:0000218High palate
HP:0000252Microcephaly
HP:0000303Mandibular prognathia
HP:0000316Hypertelorism
HP:0000454Flared nostrils
HP:0000455Broad nasal tip
HP:0000470Short neck
HP:0000494Downslanted palpebral fissures
HP:0000767Pectus excavatum
HP:0000776Congenital diaphragmatic hernia
HP:0001182Tapered finger
HP:0001252Hypotonia
HP:0004322Short stature
HP:0001537Umbilical hernia
HP:0001620Abnormally high-pitched voice
HP:0001956Truncal obesity
HP:0001999Abnormal facial shape
HP:0002342Intellectual disability, moderate
HP:00046912-3 toe syndactyly
HP:0007164Slowed slurred speech
HP:0008070Sparse hair
HP:0011343Moderate global developmental delay
HP:0200055Small hand
Периодический (5–29%)10
HP:0000147Polycystic ovaries
HP:0000365Hearing impairment
HP:0000486Strabismus
HP:0000540Hypermetropia
HP:0000739Anxiety
HP:0001250Seizure
HP:0002650Scoliosis
HP:0002788Recurrent upper respiratory tract infections
HP:0007018Attention deficit hyperactivity disorder
HP:0009890High anterior hairline
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)