8p23.1 duplication syndrome
ORPHA:251076Malformation syndromeNot applicable, UnknownAntenatal, Infancy, Neonatal
Фенотипы (HPO)18
Частый (30–79%)5
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0002463Language impairment
HP:0002553Highly arched eyebrow
HP:0030680Abnormal cardiovascular system morphology
Периодический (5–29%)13
HP:0000126Hydronephrosis
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000365Hearing impairment
HP:0000445Wide nose
HP:0000490Deeply set eye
HP:0000846Adrenal insufficiency
HP:0001629Ventricular septal defect
HP:0001636Tetralogy of Fallot
HP:0001642Pulmonic stenosis
HP:0001770Toe syndactyly
HP:0012471Thick vermilion border
HP:0100777Exostoses
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.72 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)