PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
ORPHA:438216Etiological subtypeAutosomal dominant, Not applicableInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)38
Очень частый (80–99%)4
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0002098Respiratory distress
HP:0008872Feeding difficulties in infancy
Частый (30–79%)2
HP:0002058Myopathic facies
HP:0011344Severe global developmental delay
Периодический (5–29%)32
HP:0000218High palate
HP:0000219Thin upper lip vermilion
HP:0000252Microcephaly
HP:0000276Long face
HP:0000286Epicanthus
HP:0000293Full cheeks
HP:0000297Facial hypotonia
HP:0000324Facial asymmetry
HP:0000348High forehead
HP:0000377Abnormal pinna morphology
HP:0000430Underdeveloped nasal alae
HP:0000431Wide nasal bridge
HP:0000455Broad nasal tip
HP:0000463Anteverted nares
HP:0000506Telecanthus
HP:0000545Myopia
HP:0000582Upslanted palpebral fissure
HP:0000637Long palpebral fissure
HP:0000736Short attention span
HP:0000739Anxiety
HP:0001251Ataxia
HP:0001332Dystonia
HP:0002007Frontal bossing
HP:0002136Broad-based gait
HP:0002267Exaggerated startle response
HP:0006481Abnormality of primary teeth
HP:0006829Severe muscular hypotonia
HP:0010804Tented upper lip vermilion
HP:0011081Incisor macrodontia
HP:0011220Prominent forehead
HP:0012899Handgrip myotonia
HP:0100660Dyskinesia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 24 | 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)