Version: 8.0.0
Date: Tue Jan 28 2025
TARP syndrome
DOID:0111780
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

TARP syndrome

Definition
A syndrome characterized by talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava typically resulting in late prenatal or early postnatal mortality that has_material_basis_in hemizygous mutation in the RBM10 gene on chromosome Xp11.3.
Synonyms
  • Pierre Robin sequence-congenital heart defect-talipes syndrome
  • Pierre Robin syndrome-congenital heart defect-talipes syndrome
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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