The defect in the majority of cases has mapped to chromosome 10p (Gene Map Locus: 10pter-p13 or 10p14-p15.1). Haploinsufficiency (deletions) of zinc-finger transcription factor GATA3 or mutations in the GATA3 gene appear to be the underlying cause of this syndrome. It causes the failure in the specification of prosensory domain and subsequently leads to increased cell death in the cochlear duct thus causing deafness. Since the spectrum of phenotypic variation in affected people is quite large,<unk>  (HDR) syndrome probably arises as a low penetrance haploinsufficient disorder in which their genetic background plays a major role in the severity of the disease. Inheritance is probably autosomal dominant.
Barakat syndrome
Catel–Manzke syndrome
Eiken syndrome
De Barsy syndrome
Satoyoshi syndrome
Leschke syndrome
Shapiro syndrome
Temple–Baraitser syndrome