8q12 microduplication syndrome
ORPHA:228399Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Фенотипы (HPO)20
Очень частый (80–99%)6
HP:0000407Sensorineural hearing impairment
HP:0000637Long palpebral fissure
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001629Ventricular septal defect
HP:0009921Duane anomaly
Частый (30–79%)14
HP:0000076Vesicoureteral reflux
HP:0000160Narrow mouth
HP:0000232Everted lower lip vermilion
HP:0000248Brachycephaly
HP:0000286Epicanthus
HP:0000343Long philtrum
HP:0000431Wide nasal bridge
HP:0000506Telecanthus
HP:0001291Abnormal cranial nerve morphology
HP:0001631Atrial septal defect
HP:0001773Short foot
HP:0002020Gastroesophageal reflux
HP:0002553Highly arched eyebrow
HP:0007018Attention deficit hyperactivity disorder
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)