Neuromuscular Oculoauditory Syndrome (NMOAS)

Neuromuscular Oculoauditory Syndrome, is also known as neuromuscular disease and ocular or auditory anomalies with or without seizures. An important gene associated with Neuromuscular Oculoauditory Syndrome is DHX16 (DEAH-Box Helicase 16). Affiliated tissues include eye and kidney, and related phenotypes are global developmental delay and generalized hypotonia