Distal triplication 15q syndrome
ORPHA:314588Etiological subtypeNot applicable, UnknownInfancy, Neonatal
Фенотипы (HPO)45
Очень частый (80–99%)4
HP:0000218High palate
HP:0001263Global developmental delay
HP:0001507Growth abnormality
HP:0001999Abnormal facial shape
Частый (30–79%)13
HP:0000077Abnormality of the kidney
HP:0000126Hydronephrosis
HP:0000278Retrognathia
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000506Telecanthus
HP:0000929Abnormal skull morphology
HP:0001252Hypotonia
HP:0001328Specific learning disability
HP:0001363Craniosynostosis
HP:0001520Large for gestational age
HP:0003517Birth length greater than 97th percentile
Периодический (5–29%)28
HP:0000034Hydrocele testis
HP:0000085Horseshoe kidney
HP:0000113Polycystic kidney dysplasia
HP:0000238Hydrocephalus
HP:0000378Cupped ear
HP:0000407Sensorineural hearing impairment
HP:0000486Strabismus
HP:0000766Abnormal sternum morphology
HP:0000811Abnormal external genitalia
HP:0001131Corneal dystrophy
HP:0001166Arachnodactyly
HP:0001305Dandy-Walker malformation
HP:0001371Flexion contracture
HP:0001511Intrauterine growth retardation
HP:0001627Abnormal heart morphology
HP:0001631Atrial septal defect
HP:0001643Patent ductus arteriosus
HP:0002089Pulmonary hypoplasia
HP:0002650Scoliosis
HP:0002667Nephroblastoma
HP:0002808Kyphosis
HP:0003396Syringomyelia
HP:0008551Microtia
HP:0010946Dilatation of the renal pelvis
HP:0011039Abnormality of the helix
HP:0012304Hypoplastic aortic arch
HP:0012385Camptodactyly
HP:0100790Hernia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 23 | 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)