17q12 microduplication syndrome
ORPHA:261272Malformation syndromeAntenatal, Infancy, Neonatal
Фенотипы (HPO)17
Частый (30–79%)1
HP:0002539Cortical dysplasia
Периодический (5–29%)16
HP:0000175Cleft palate
HP:0000490Deeply set eye
HP:0000501Glaucoma
HP:0000568Microphthalmia
HP:0000664Synophrys
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001561Polyhydramnios
HP:0001631Atrial septal defect
HP:0001770Toe syndactyly
HP:0002463Language impairment
HP:0002575Tracheoesophageal fistula
HP:0003468Abnormal vertebral morphology
HP:0006101Finger syndactyly
HP:0100716Self-injurious behavior
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 118 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Point prevalence | 1-9 / 1 000 000 | 0.46 | Denmark | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)