DISEASES

Disease-gene associations mined from literature

Human genes for ischiocoxopodopatellar syndrome

Ischiocoxopodopatellar syndrome [DOID:0111382]

A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has_material_basis_in heterozygous mutation in TBX4 on chromosome 17q23.2.

Synonyms:  ischiocoxopodopatellar syndrome,  DOID:0111382,  ischiocoxopodopatellar disease,  ischiocoxopodopatellar disorder,  ischiocoxopodopatellar syndromes ...