16p13.11 microduplication syndrome
ORPHA:261243Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Фенотипы (HPO)19
Частый (30–79%)6
HP:0001161Hand polydactyly
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0002463Language impairment
HP:0007018Attention deficit hyperactivity disorder
HP:0001382Joint hypermobility
Периодический (5–29%)13
HP:0000268Dolichocephaly
HP:0000717Autism
HP:0000718Aggressive behavior
HP:0000767Pectus excavatum
HP:0001166Arachnodactyly
HP:0001363Craniosynostosis
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001636Tetralogy of Fallot
HP:0001669Transposition of the great arteries
HP:0001680Coarctation of aorta
HP:0001763Pes planus
HP:0100753Schizophrenia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 162 | 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)