Fetal trimethadione syndrome
ORPHA:1913Malformation syndromeNot applicableAntenatal, Neonatal
Фенотипы (HPO)26
Очень частый (80–99%)14
HP:0000248Brachycephaly
HP:0000286Epicanthus
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000396Overfolded helix
HP:0000664Synophrys
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001511Intrauterine growth retardation
HP:0003196Short nose
HP:0005280Depressed nasal bridge
HP:0011039Abnormality of the helix
HP:0011220Prominent forehead
HP:0011800Midface retrusion
Частый (30–79%)10
HP:0000047Hypospadias
HP:0000062Ambiguous genitalia
HP:0000218High palate
HP:0000252Microcephaly
HP:0000486Strabismus
HP:0000508Ptosis
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001636Tetralogy of Fallot
HP:0007598Bilateral single transverse palmar creases
Периодический (5–29%)2
HP:0001669Transposition of the great arteries
HP:0002650Scoliosis
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)