Term Name: | Pierpont syndrome |
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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. |
Ontology: | Human Disease [DOID:0081362] ( DOID:0081362 ) |