1p21.3 microdeletion syndrome
ORPHA:293948Malformation syndromeUnknownNo data available
Ассоциированные гены1
Фенотипы (HPO)25
Очень частый (80–99%)10
HP:0000483Astigmatism
HP:0000504Abnormality of vision
HP:0000545Myopia
HP:0001249Intellectual disability
HP:0001256Intellectual disability, mild
HP:0001263Global developmental delay
HP:0001513Obesity
HP:0100738Abnormal eating behavior
HP:0100962Shyness
HP:0400004Long ear
Частый (30–79%)9
HP:0000256Macrocephaly
HP:0000293Full cheeks
HP:0000455Broad nasal tip
HP:0000490Deeply set eye
HP:0000582Upslanted palpebral fissure
HP:0000708Atypical behavior
HP:0000729Autistic behavior
HP:0000750Delayed speech and language development
HP:0003196Short nose
Периодический (5–29%)6
HP:0000154Wide mouth
HP:0000347Micrognathia
HP:0000718Aggressive behavior
HP:0000742Self-mutilation
HP:0001382Joint hypermobility
HP:0100716Self-injurious behavior
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 9 | 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)