Non-distal duplication 10q syndrome
ORPHA:1695Malformation syndromeNeonatal
Фенотипы (HPO)24
Очень частый (80–99%)15
HP:0001382Joint hypermobility
HP:0000358Posteriorly rotated ears
HP:0000232Everted lower lip vermilion
HP:0000252Microcephaly
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000348High forehead
HP:0000494Downslanted palpebral fissures
HP:0000581Blepharophimosis
HP:0002007Frontal bossing
HP:0002916Abnormality of chromosome segregation
HP:0003196Short nose
HP:0004322Short stature
HP:0005280Depressed nasal bridge
HP:0100543Cognitive impairment
Частый (30–79%)7
HP:0000028Cryptorchidism
HP:0000218High palate
HP:0000248Brachycephaly
HP:0000444Convex nasal ridge
HP:0000767Pectus excavatum
HP:0002650Scoliosis
HP:0008056Aplasia/Hypoplasia affecting the eye
Периодический (5–29%)2
HP:0000079Abnormality of the urinary system
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Not yet documented | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)