Mosaic trisomy 2 syndrome
ORPHA:1723Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)24
Частый (30–79%)8
HP:0000252Microcephaly
HP:0000316Hypertelorism
HP:0001511Intrauterine growth retardation
HP:0001562Oligohydramnios
HP:0002194Delayed gross motor development
HP:0008897Postnatal growth retardation
HP:0011800Midface retrusion
HP:0100790Hernia
Периодический (5–29%)16
HP:0000175Cleft palate
HP:0000268Dolichocephaly
HP:0000568Microphthalmia
HP:0001177Preaxial hand polydactyly
HP:0001627Abnormal heart morphology
HP:0002119Ventriculomegaly
HP:0002251Aganglionic megacolon
HP:0002414Spina bifida
HP:0002566Intestinal malrotation
HP:0002650Scoliosis
HP:0002984Hypoplasia of the radius
HP:0003022Hypoplasia of the ulna
HP:0012758Neurodevelopmental delay
HP:0033725Thin corpus callosum
HP:0045005Neural tube defect
HP:0410030Cleft lip
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 22 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)