label: Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy
label_lc: neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
description: An autosomal recessive condition caused by mutation(s) in the TRAPPC4 gene, encoding trafficking protein particle complex subunit 4. It is characterized by severely impaired global development, seizures during infancy, lack of psychomotor progress, hypotonia, peripheral spasticity with contractures, cortical visual impairment, and dysmorphia, including microcephaly.