Mosaic trisomy 17 syndrome
ORPHA:1711Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)20
Частый (30–79%)15
HP:0000252Microcephaly
HP:0000308Microretrognathia
HP:0000316Hypertelorism
HP:0000365Hearing impairment
HP:0000750Delayed speech and language development
HP:0001195Single umbilical artery
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001321Cerebellar hypoplasia
HP:0001511Intrauterine growth retardation
HP:0001629Ventricular septal defect
HP:0007018Attention deficit hyperactivity disorder
HP:0008897Postnatal growth retardation
Периодический (5–29%)5
HP:0000023Inguinal hernia
HP:0000476Cystic hygroma
HP:0002119Ventriculomegaly
HP:0002650Scoliosis
HP:0100559Lower limb asymmetry
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 31 | 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)