Pierpont Syndrome (PRPTS)

Pierpont Syndrome, also known as plantar lipomatosis, unusual facies, and developmental delay, is related to intellectual developmental disorder, autosomal dominant 41 and lipomatosis. An important gene associated with Pierpont Syndrome is TBL1XR1 (TBL1X/Y Related 1). Affiliated tissues include eye and skin, and related phenotypes are intellectual disability and short neck