15q11.2 microdeletion syndrome
ORPHA:261183Malformation syndromeNot applicableInfancy, Neonatal
Ассоциированные гены3
Фенотипы (HPO)31
Частый (30–79%)13
HP:0000174Abnormal palate morphology
HP:0000377Abnormal pinna morphology
HP:0000708Atypical behavior
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001270Motor delay
HP:0001999Abnormal facial shape
HP:0002354Memory impairment
HP:0006891Thick cerebral cortex
HP:0007018Attention deficit hyperactivity disorder
HP:0010522Dyslexia
HP:0410263Brain imaging abnormality
Периодический (5–29%)12
HP:0000252Microcephaly
HP:0000337Broad forehead
HP:0000717Autism
HP:0000729Autistic behavior
HP:0000736Short attention span
HP:0001250Seizure
HP:0001251Ataxia
HP:0001627Abnormal heart morphology
HP:0002172Postural instability
HP:0002370Poor coordination
HP:0100716Self-injurious behavior
HP:0100753Schizophrenia
Очень редкий (1–4%)6
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001636Tetralogy of Fallot
HP:0001680Coarctation of aorta
HP:0002198Dilated fourth ventricle
HP:0005160Total anomalous pulmonary venous return
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 200 | 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)