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 ...