Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities (NEDSGA)

Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities, also known as nedsga, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a and cerebellar atrophy, developmental delay, and seizures. An important gene associated with Neurodevelopmental Disorder with or Without Seizures and Gait Abnormalities is GRIA4 (Glutamate Ionotropic Receptor AMPA Type Subunit 4). Related phenotypes are intellectual disability and global developmental delay