autosomal dominant disease multiple congenital anomalies/dysmorphic syndrome-intellectual disability PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome https://github.com/monarch-initiative/mondo/issues/5114 https://github.com/monarch-initiative/mondo/issues/6695 https://github.com/monarch-initiative/mondo/issues/6752 https://github.com/monarch-initiative/mondo/issues/6876 https://github.com/monarch-initiative/mondo/issues/6878 https://github.com/monarch-initiative/mondo/issues/8953 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. PURA-related neurodevelopmental disorders Orphanet:438213 MONDO:1060108 UMLS:C4015357 GARD:0027440 PURA syndrome MEDGEN:863794