14q24.1q24.3 microdeletion syndrome
ORPHA:401935Malformation syndromeUnknownNeonatal
Фенотипы (HPO)24
Частый (30–79%)8
HP:0000219Thin upper lip vermilion
HP:0000316Hypertelorism
HP:0000494Downslanted palpebral fissures
HP:0001156Brachydactyly
HP:0001256Intellectual disability, mild
HP:0001382Joint hypermobility
HP:0001627Abnormal heart morphology
HP:0009778Short thumb
Периодический (5–29%)16
HP:0000028Cryptorchidism
HP:0000086Ectopic kidney
HP:0000319Smooth philtrum
HP:0000343Long philtrum
HP:0000426Prominent nasal bridge
HP:0000431Wide nasal bridge
HP:0000664Synophrys
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001660Truncus arteriosus
HP:0002566Intestinal malrotation
HP:0003083Dislocated radial head
HP:0003196Short nose
HP:0004935Pulmonary artery atresia
HP:0005852Limited elbow extension and supination
HP:0011800Midface retrusion
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)