Liberfarb Syndrome (LIBF)

Liberfarb Syndrome, also known as spondyloepimetaphyseal dysplasia, liberfarb type, is related to short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome and sensorineural hearing loss. An important gene associated with Liberfarb Syndrome is PISD (Phosphatidylserine Decarboxylase). Affiliated tissues include bone and retina, and related phenotypes are intellectual disability and scoliosis