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Summary Literature (0)
DOID:0081362 - Pierpont syndrome

Disease Ontology 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.

Synonyms: Plantar lipomatosis-facial dysmorphism-developmental delay syndrome, Plantar lipomatosis-unusual facies-developmental delay syndrome,

Xenbase Genes : tbl1xr1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant intellectual developmental disorder (is_a)