Синдром тяжкої неонатальної гіпотонії-судом-енцефалопатії, повязаний з PURA
ORPHA:438213· ICD-10 G40.4· PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Визначення(English summary)
A rare neurologic disease characterized by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant, Not applicable, Unknown
- Вік початку
- Infancy, Neonatal