Pierpont syndrome

Term ID

DOID:0081362

Synonyms

• Plantar lipomatosis-facial dysmorphism-developmental delay syndrome
• Plantar lipomatosis-unusual facies-developmental delay syndrome

Definition

An autosomal dominant intellectual developmental disorder that is characterized by distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies and that has_material_basis_in heterozygous mutation in the TBL1XR1 gene on chromosome 3q26. (2)

References

• OMIM:602342
• ORDO:487825

Ontology

Human Disease   ( DOID:0081362 )