Disease

Pierpont Syndrome

About the Disease
Pierpont Syndrome, also known as plantar lipomatosis, unusual facies, and developmental delay, is related to lipomatosis and cryptorchidism, unilateral or bilateral. An important gene associated with Pierpont Syndrome is TBL1XR1 (TBL1X/Y Related 1). Affiliated tissues include eye, skin and brain, and related phenotypes are intellectual disability and short neck

Common Targets
TBL1XR1

疾病靶点研报
Pierpont Syndrome

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