Distal duplication 15q syndrome
ORPHA:1707Etiological subtypeAntenatal, Neonatal
Фенотипы (HPO)29
Очень частый (80–99%)13
HP:0000028Cryptorchidism
HP:0000218High palate
HP:0000340Sloping forehead
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000426Prominent nasal bridge
HP:0000494Downslanted palpebral fissures
HP:0000767Pectus excavatum
HP:0001166Arachnodactyly
HP:0001249Intellectual disability
HP:0001387Joint stiffness
HP:0002714Downturned corners of mouth
HP:0100490Camptodactyly of finger
Частый (30–79%)11
HP:0000055Abnormality of female external genitalia
HP:0000252Microcephaly
HP:0000324Facial asymmetry
HP:0000470Short neck
HP:0000508Ptosis
HP:0000581Blepharophimosis
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001276Hypertonia
HP:0005988Congenital muscular torticollis
HP:0030680Abnormal cardiovascular system morphology
Периодический (5–29%)5
HP:0000098Tall stature
HP:0000383Abnormality of periauricular region
HP:0001511Intrauterine growth retardation
HP:0001539Omphalocele
HP:0002023Anal atresia
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)