8p11.2 deletion syndrome
ORPHA:251066Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)36
Очень частый (80–99%)11
HP:0000028Cryptorchidism
HP:0000044Hypogonadotropic hypogonadism
HP:0000135Hypogonadism
HP:0000347Micrognathia
HP:0000864Abnormality of the hypothalamus-pituitary axis
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001878Hemolytic anemia
HP:0004322Short stature
HP:0004444Spherocytosis
HP:0008736Hypoplasia of penis
Частый (30–79%)6
HP:0000027Azoospermia
HP:0000218High palate
HP:0000252Microcephaly
HP:0000639Nystagmus
HP:0004467Preauricular pit
HP:0000377Abnormal pinna morphology
Периодический (5–29%)19
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000458Anosmia
HP:0000482Microcornea
HP:0000556Retinal dystrophy
HP:0000581Blepharophimosis
HP:0000582Upslanted palpebral fissure
HP:0000612Iris coloboma
HP:0000960Sacral dimple
HP:0001250Seizure
HP:0001510Growth delay
HP:0001631Atrial septal defect
HP:0001634Mitral valve prolapse
HP:0001643Patent ductus arteriosus
HP:0001744Splenomegaly
HP:0001762Talipes equinovarus
HP:0005280Depressed nasal bridge
HP:0005815Supernumerary ribs
HP:0011968Feeding difficulties
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)