| Metadata | |
|---|---|
| ID | DOID:0081362 |
| Name | Pierpont 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. https://pubmed.ncbi.nlm.nih.gov/26769062/, https://www.ncbi.nlm.nih.gov/articles/PMC8077337/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Plantar lipomatosis-facial dysmorphism-developmental delay syndrome [EXACT] Plantar lipomatosis-unusual facies-developmental delay syndrome [EXACT] |
| Parent Relationships |