Mosaic trisomy 14 syndrome
ORPHA:1703Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)30
Очень частый (80–99%)12
HP:0000154Wide mouth
HP:0000218High palate
HP:0000347Micrognathia
HP:0000426Prominent nasal bridge
HP:0000431Wide nasal bridge
HP:0000470Short neck
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001508Failure to thrive
HP:0002007Frontal bossing
HP:0002916Abnormality of chromosome segregation
HP:0030680Abnormal cardiovascular system morphology
Частый (30–79%)13
HP:0000358Posteriorly rotated ears
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000175Cleft palate
HP:0000316Hypertelorism
HP:0000463Anteverted nares
HP:0000581Blepharophimosis
HP:0000774Narrow chest
HP:0001250Seizure
HP:0004397Ectopic anus
HP:0007598Bilateral single transverse palmar creases
HP:0008551Microtia
HP:0008736Hypoplasia of penis
Периодический (5–29%)5
HP:0000508Ptosis
HP:0000772Abnormal rib morphology
HP:0008056Aplasia/Hypoplasia affecting the eye
HP:0100490Camptodactyly of finger
HP:0100559Lower limb asymmetry
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 50 | 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)