Distal 16p11.2 microdeletion syndrome
ORPHA:261222Malformation syndromeNot applicableAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)26
Очень частый (80–99%)11
HP:0000160Narrow mouth
HP:0000294Low anterior hairline
HP:0000300Oval face
HP:0000426Prominent nasal bridge
HP:0000510Rod-cone dystrophy
HP:0000556Retinal dystrophy
HP:0000750Delayed speech and language development
HP:0001166Arachnodactyly
HP:0001263Global developmental delay
HP:0001319Neonatal hypotonia
HP:0007018Attention deficit hyperactivity disorder
Частый (30–79%)13
HP:0000076Vesicoureteral reflux
HP:0000077Abnormality of the kidney
HP:0000093Proteinuria
HP:0000104Renal agenesis
HP:0000729Autistic behavior
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001513Obesity
HP:0002149Hyperuricemia
HP:0002251Aganglionic megacolon
HP:0011351Moderate receptive language delay
HP:0012450Chronic constipation
HP:0012622Chronic kidney disease
Периодический (5–29%)2
HP:0002076Migraine
HP:0002808Kyphosis
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)