Term Name: Pierpont syndrome
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 )

Relationships
is a type of: autosomal dominant intellectual developmental disorder