DISEASES

Disease-gene associations mined from literature

JensenLab

Human genes for TARP syndrome

TARP syndrome [DOID:0111780]

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:  TARP syndrome,  DOID:0111780,  TARP disease,  TARP disorder,  TARP syndromes ...