Pierpont Syndrome (PRPTS)

Alias:

Plantar Lipomatosis, Unusual Facies, and Developmental Delay

Plantar Lipomatosis-Facial Dysmorphism-Developmental Delay Syndrome

Plantar Lipomatosis-Unusual Facies-Developmental Delay Syndrome

Prpts

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Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

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

Related ID：

MALACARDS：PRP093

OMIM：602342

MESH：D002658