Microcephaly-seizures-intellectual disability-heart disease syndrome
ORPHA:2519Malformation syndromeUnknownInfancy, Neonatal
Фенотипы (HPO)24
Очень частый (80–99%)8
HP:0000054Micropenis
HP:0000851Congenital hypothyroidism
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001631Atrial septal defect
HP:0006934Congenital nystagmus
HP:0008947Floppy infant
Частый (30–79%)16
HP:0000028Cryptorchidism
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000565Esotropia
HP:0000766Abnormal sternum morphology
HP:0000772Abnormal rib morphology
HP:0000773Short ribs
HP:0000885Broad ribs
HP:0001162Postaxial hand polydactyly
HP:0001629Ventricular septal defect
HP:0001643Patent ductus arteriosus
HP:0002079Hypoplasia of the corpus callosum
HP:0002092Pulmonary arterial hypertension
HP:0002098Respiratory distress
HP:0002558Supernumerary nipple
HP:0005989Redundant neck skin
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)