PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
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.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
PURA syndrome
narrow
PURA-related neurodevelopmental disorders
exact