Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
ORPHA:500533DiseaseAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)34
Очень частый (80–99%)8
HP:0000256Macrocephaly
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001355Megalencephaly
HP:0001561Polyhydramnios
HP:0001999Abnormal facial shape
HP:0012469Infantile spasms
Частый (30–79%)3
HP:0002119Ventriculomegaly
HP:0012430Cerebral white matter hypoplasia
HP:0030891Periventricular white matter hyperintensities
Периодический (5–29%)23
HP:0000121Nephrocalcinosis
HP:0000154Wide mouth
HP:0000194Open mouth
HP:0000275Narrow face
HP:0000297Facial hypotonia
HP:0000348High forehead
HP:0000873Diabetes insipidus
HP:0001344Absent speech
HP:0001382Joint hypermobility
HP:0001508Failure to thrive
HP:0001631Atrial septal defect
HP:0001635Congestive heart failure
HP:0002133Status epilepticus
HP:0002307Drooling
HP:0002384Focal impaired awareness seizure
HP:0002553Highly arched eyebrow
HP:0003199Decreased muscle mass
HP:0006829Severe muscular hypotonia
HP:0010804Tented upper lip vermilion
HP:0011182Interictal epileptiform activity
HP:0011344Severe global developmental delay
HP:0011968Feeding difficulties
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 17 | 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)