Mosaic trisomy 20 syndrome
ORPHA:1724Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)39
Очень частый (80–99%)1
HP:0008947Floppy infant
Частый (30–79%)7
HP:0000278Retrognathia
HP:0002143Abnormality of the spinal cord
HP:0007483Depigmentation/hyperpigmentation of skin
HP:0007535Hypopigmented streaks
HP:0011342Mild global developmental delay
HP:0012450Chronic constipation
HP:0200021Down-sloping shoulders
Периодический (5–29%)30
HP:0030084Clinodactyly
HP:0030732Dysplastic tricuspid valve
HP:0410030Cleft lip
HP:0000028Cryptorchidism
HP:0000077Abnormality of the kidney
HP:0000085Horseshoe kidney
HP:0000175Cleft palate
HP:0000347Micrognathia
HP:0000365Hearing impairment
HP:0000472Long neck
HP:0000486Strabismus
HP:0000582Upslanted palpebral fissure
HP:0000750Delayed speech and language development
HP:0000774Narrow chest
HP:0001252Hypotonia
HP:0001260Dysarthria
HP:0001270Motor delay
HP:0001328Specific learning disability
HP:0001511Intrauterine growth retardation
HP:0001629Ventricular septal defect
HP:0001633Abnormal mitral valve morphology
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0002948Vertebral fusion
HP:0002949Fused cervical vertebrae
HP:0003416Spinal canal stenosis
HP:0003422Vertebral segmentation defect
HP:0004484Craniofacial asymmetry
HP:0006394Limited pronation/supination of forearm
HP:0006610Wide intermamillary distance
Исключён (0%)1
HP:0001249Intellectual disability
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)