Mycophenolate mofetil embryopathy
ORPHA:268249Malformation syndromeNot applicableAntenatal, Infancy, Neonatal
Фенотипы (HPO)28
Очень частый (80–99%)3
HP:0000413Atresia of the external auditory canal
HP:0008551Microtia
HP:0009892Anotia
Частый (30–79%)9
HP:0000202Orofacial cleft
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000365Hearing impairment
HP:0000567Chorioretinal coloboma
HP:0000568Microphthalmia
HP:0000572Visual loss
HP:0000612Iris coloboma
HP:0001800Hypoplastic toenails
Периодический (5–29%)16
HP:0000086Ectopic kidney
HP:0000238Hydrocephalus
HP:0000625Eyelid coloboma
HP:0000776Congenital diaphragmatic hernia
HP:0001256Intellectual disability, mild
HP:0001274Agenesis of corpus callosum
HP:0001629Ventricular septal defect
HP:0001680Coarctation of aorta
HP:0001789Hydrops fetalis
HP:0001829Foot polydactyly
HP:0002006Facial cleft
HP:0002575Tracheoesophageal fistula
HP:0002779Tracheomalacia
HP:0004279Short palm
HP:0008437Bifid thoracic vertebrae
HP:0011803Bifid nose
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 25 | 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)