10q22.3q23.3 microduplication syndrome
ORPHA:276422Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Фенотипы (HPO)21
Очень частый (80–99%)1
HP:0000490Deeply set eye
Частый (30–79%)15
HP:0000047Hypospadias
HP:0000062Ambiguous genitalia
HP:0000164Abnormality of the dentition
HP:0000252Microcephaly
HP:0000288Abnormality of the philtrum
HP:0000293Full cheeks
HP:0000308Microretrognathia
HP:0000337Broad forehead
HP:0000486Strabismus
HP:0000582Upslanted palpebral fissure
HP:0000601Hypotelorism
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0002381Aphasia
HP:0030680Abnormal cardiovascular system morphology
Периодический (5–29%)5
HP:0000369Low-set ears
HP:0000389Chronic otitis media
HP:0000772Abnormal rib morphology
HP:0000889Abnormality of the clavicle
HP:0001636Tetralogy of Fallot
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)