Spastic Paraplegia and Psychomotor Retardation with or Without Seizures (SPPRS)

Spastic Paraplegia and Psychomotor Retardation with or Without Seizures, is also known as spastic paraplegia-severe developmental delay-epilepsy syndrome. An important gene associated with Spastic Paraplegia and Psychomotor Retardation with or Without Seizures is HACE1 (HECT Domain And Ankyrin Repeat Containing E3 Ubiquitin Protein Ligase 1). Affiliated tissues include eye, and related phenotypes are seizure and global developmental delay