Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome

Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome, also known as fitzsimmons-mclachlan-gilbert syndrome, is related to mental retardation with spastic paraplegia and palmoplantar hyperkeratosis. An important gene associated with Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome is IQSEC2 (IQ Motif And Sec7 Domain ArfGEF 2). Related phenotypes are intellectual disability and spasticity