Mosaic trisomy 3 syndrome
ORPHA:100071Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)23
Частый (30–79%)3
HP:0000377Abnormal pinna morphology
HP:0004322Short stature
HP:0011220Prominent forehead
Периодический (5–29%)19
HP:0000175Cleft palate
HP:0000322Short philtrum
HP:0000365Hearing impairment
HP:0000369Low-set ears
HP:0000501Glaucoma
HP:0000545Myopia
HP:0000589Coloboma
HP:0001159Syndactyly
HP:0001249Intellectual disability
HP:0001382Joint hypermobility
HP:0001511Intrauterine growth retardation
HP:0001531Failure to thrive in infancy
HP:0001627Abnormal heart morphology
HP:0002041Intractable diarrhea
HP:0002650Scoliosis
HP:0002827Hip dislocation
HP:0002829Arthralgia
HP:0003298Spina bifida occulta
HP:0004395Malnutrition
Очень редкий (1–4%)1
HP:0004808Acute myeloid leukemia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 6 | 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)