PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
ORPHA:438213· ICD-10 G40.4
Definition
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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant, Not applicable, Unknown
- Age of onset
- Infancy, Neonatal