PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome

MONDO:1060108

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.

Also known as: PURA-related neurodevelopmental disorders, PURA syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome itself.

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↑ Autosomal dominant disease (699) ↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59)

Sub-types of PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome

Including sub-types (0) Tagged with PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome (0)

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