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Human Disease

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
Ontology
Human Disease   ( DOID:0081362 )
Relationships
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Genes Involved
Zebrafish Models