Lamb-Shaffer Syndrome (LAMSHF)

Lamb-Shaffer Syndrome, also known as 12p12.1 microdeletion syndrome, is related to cerebellar atrophy, developmental delay, and seizures and scoliosis. An important gene associated with Lamb-Shaffer Syndrome is SOX5 (SRY-Box Transcription Factor 5). Affiliated tissues include brain and tongue, and related phenotypes are intellectual disability and motor delay