17q23.1q23.2 microdeletion syndrome
ORPHA:261279Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)46
Очень частый (80–99%)5
HP:0000750Delayed speech and language development
HP:0010511Long toe
HP:0011342Mild global developmental delay
HP:0011343Moderate global developmental delay
HP:0100807Long fingers
Частый (30–79%)6
HP:0000252Microcephaly
HP:0001511Intrauterine growth retardation
HP:0001643Patent ductus arteriosus
HP:0002007Frontal bossing
HP:0002092Pulmonary arterial hypertension
HP:0004322Short stature
Периодический (5–29%)35
HP:0000049Shawl scrotum
HP:0000160Narrow mouth
HP:0000272Malar flattening
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000365Hearing impairment
HP:0000389Chronic otitis media
HP:0000411Protruding ear
HP:0000414Bulbous nose
HP:0000486Strabismus
HP:0000498Blepharitis
HP:0000527Long eyelashes
HP:0000687Widely spaced teeth
HP:0000708Atypical behavior
HP:0000960Sacral dimple
HP:0001252Hypotonia
HP:0001347Hyperreflexia
HP:0001376Limitation of joint mobility
HP:0001508Failure to thrive
HP:0001631Atrial septal defect
HP:0001763Pes planus
HP:0001852Sandal gap
HP:0002020Gastroesophageal reflux
HP:0002094Dyspnea
HP:0002553Highly arched eyebrow
HP:0002650Scoliosis
HP:0002803Congenital contracture
HP:0003065Patellar hypoplasia
HP:0003182Shallow acetabular fossae
HP:0003279Coxa magna
HP:0004209Clinodactyly of the 5th finger
HP:0005280Depressed nasal bridge
HP:0005930Abnormality of epiphysis morphology
HP:0007598Bilateral single transverse palmar creases
HP:0011803Bifid nose
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 7 | 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)