has material basis in germline mutation in POLR2A neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities https://github.com/monarch-initiative/mondo/issues/3680 https://github.com/monarch-initiative/mondo/issues/7988 https://www.malacards.org/card/neurodevelopmental_disorder_with_hypotonia_and_variable_intellectual_and_behavioral_abnormalities MONDO:0032829 MEDGEN:1684818 OMIM:618603 POLR2A-related disorder neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities NEDHIB UMLS:C5231423 Neurodevelopmental disorder in which the cause of the disease is a variation in the POLR2A gene; it is characterized by early-onset hypotonia, delayed walking, poor speech, and impaired intellectual development. Other features may include feeding difficulties, dysmorphic features, and visual problems. Brain magnetic resonance imaging tends to show delayed myelination, thin corpus callosum, and/or enlarged ventricles. POLR2A-associated neurodevelopmental disability POLR2A-Related Disorders Mendelian neurodevelopmental disorder