3q29 microduplication syndrome
ORPHA:251038Malformation syndromeAutosomal dominant, Not applicableInfancy, Neonatal
Фенотипы (HPO)30
Частый (30–79%)7
HP:0000164Abnormality of the dentition
HP:0000252Microcephaly
HP:0000494Downslanted palpebral fissures
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001513Obesity
Периодический (5–29%)23
HP:0000175Cleft palate
HP:0000218High palate
HP:0000239Large fontanelles
HP:0000256Macrocephaly
HP:0000348High forehead
HP:0000365Hearing impairment
HP:0000369Low-set ears
HP:0000431Wide nasal bridge
HP:0000470Short neck
HP:0000518Cataract
HP:0000526Aniridia
HP:0000568Microphthalmia
HP:0000612Iris coloboma
HP:0000647Sclerocornea
HP:0001250Seizure
HP:0001363Craniosynostosis
HP:0001629Ventricular septal defect
HP:0001770Toe syndactyly
HP:0001836Camptodactyly of toe
HP:0001852Sandal gap
HP:0002002Deep philtrum
HP:0004397Ectopic anus
HP:0004422Biparietal narrowing
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)