Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 (DMJDS2)

Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2, is also known as spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia. An important gene associated with Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 is GSX2 (GS Homeobox 2). Affiliated tissues include olfactory bulb and thalamus, and related phenotypes are feeding difficulties in infancy and spastic tetraplegia