8p23.1 microdeletion syndrome
ORPHA:251071Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)49
Очень частый (80–99%)3
HP:0001256Intellectual disability, mild
HP:0001263Global developmental delay
HP:0001511Intrauterine growth retardation
Частый (30–79%)27
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000218High palate
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000347Micrognathia
HP:0000348High forehead
HP:0000369Low-set ears
HP:0000377Abnormal pinna morphology
HP:0000431Wide nasal bridge
HP:0000470Short neck
HP:0000708Atypical behavior
HP:0001182Tapered finger
HP:0001250Seizure
HP:0001510Growth delay
HP:0001671Abnormal cardiac septum morphology
HP:0001824Weight loss
HP:0002465Poor speech
HP:0003196Short nose
HP:0004322Short stature
HP:0004415Pulmonary artery stenosis
HP:0004422Biparietal narrowing
HP:0006610Wide intermamillary distance
HP:0006695Atrioventricular canal defect
HP:0007018Attention deficit hyperactivity disorder
HP:0030680Abnormal cardiovascular system morphology
HP:0100625Enlarged thorax
Периодический (5–29%)19
HP:0000233Thin vermilion border
HP:0000293Full cheeks
HP:0000426Prominent nasal bridge
HP:0000486Strabismus
HP:0000490Deeply set eye
HP:0000494Downslanted palpebral fissures
HP:0000582Upslanted palpebral fissure
HP:0000776Congenital diaphragmatic hernia
HP:0001513Obesity
HP:0001636Tetralogy of Fallot
HP:0001639Hypertrophic cardiomyopathy
HP:0001643Patent ductus arteriosus
HP:0001669Transposition of the great arteries
HP:0001679Abnormal aortic morphology
HP:0001763Pes planus
HP:0004383Hypoplastic left heart
HP:0009623Proximal placement of thumb
HP:0010059Broad hallux phalanx
HP:0011304Broad thumb
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)