16q24.3 microdeletion syndrome
ORPHA:261250Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)47
Очень частый (80–99%)3
HP:0000348High forehead
HP:0000411Protruding ear
HP:0000717Autism
Частый (30–79%)14
HP:0000154Wide mouth
HP:0000218High palate
HP:0000307Pointed chin
HP:0000319Smooth philtrum
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000609Optic nerve hypoplasia
HP:0001250Seizure
HP:0002007Frontal bossing
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002342Intellectual disability, moderate
HP:0007165Periventricular heterotopia
HP:0030048Colpocephaly
Периодический (5–29%)30
HP:0000028Cryptorchidism
HP:0000276Long face
HP:0000325Triangular face
HP:0000365Hearing impairment
HP:0000384Preauricular skin tag
HP:0000389Chronic otitis media
HP:0000463Anteverted nares
HP:0000483Astigmatism
HP:0000486Strabismus
HP:0000505Visual impairment
HP:0000545Myopia
HP:0000582Upslanted palpebral fissure
HP:0000639Nystagmus
HP:0000750Delayed speech and language development
HP:0001385Hip dysplasia
HP:0001629Ventricular septal defect
HP:0001644Dilated cardiomyopathy
HP:0001653Mitral regurgitation
HP:0001873Thrombocytopenia
HP:0002015Dysphagia
HP:0002553Highly arched eyebrow
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0004422Biparietal narrowing
HP:0005518Increased mean corpuscular volume
HP:0006315Single median maxillary incisor
HP:0009623Proximal placement of thumb
HP:0010720Abnormal hair pattern
HP:0011968Feeding difficulties
HP:0012471Thick vermilion border
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 27 | 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)