Distal deletion 15q syndrome
ORPHA:1596Malformation syndromeAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)59
Очень частый (80–99%)2
HP:0001511Intrauterine growth retardation
HP:0001518Small for gestational age
Частый (30–79%)47
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000054Micropenis
HP:0000164Abnormality of the dentition
HP:0000175Cleft palate
HP:0000219Thin upper lip vermilion
HP:0000252Microcephaly
HP:0000280Coarse facial features
HP:0000316Hypertelorism
HP:0000322Short philtrum
HP:0000325Triangular face
HP:0000347Micrognathia
HP:0000365Hearing impairment
HP:0000369Low-set ears
HP:0000455Broad nasal tip
HP:0000486Strabismus
HP:0000581Blepharophimosis
HP:0000582Upslanted palpebral fissure
HP:0000729Autistic behavior
HP:0000750Delayed speech and language development
HP:0000776Congenital diaphragmatic hernia
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0001647Bicuspid aortic valve
HP:0001680Coarctation of aorta
HP:0001718Mitral stenosis
HP:0001762Talipes equinovarus
HP:0001792Small nail
HP:0002089Pulmonary hypoplasia
HP:0002761Generalized joint laxity
HP:0002827Hip dislocation
HP:0002857Genu valgum
HP:0004322Short stature
HP:0005469Flat occiput
HP:00057092-3 toe cutaneous syndactyly
HP:0007018Attention deficit hyperactivity disorder
HP:0008897Postnatal growth retardation
HP:0009381Short finger
HP:0009882Short distal phalanx of finger
HP:0010297Bifid tongue
HP:0012303Abnormal aortic arch morphology
HP:0030353Decreased serum insulin-like growth factor 1
HP:0030918Low 1-minute APGAR score
HP:0040019Finger clinodactyly
HP:0200055Small hand
Периодический (5–29%)10
HP:0000003Multicystic kidney dysplasia
HP:0000476Cystic hygroma
HP:0000954Single transverse palmar crease
HP:0001195Single umbilical artery
HP:0001643Patent ductus arteriosus
HP:0004383Hypoplastic left heart
HP:0004471Aplasia cutis congenita over the scalp vertex
HP:0011560Mitral atresia
HP:0011651Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis
HP:0100542Abnormal localization of kidney
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 30 | 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)