Summary Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems), or nonsyndromic (no other visible abnormalities of the external ear or any related medical problem); and prelingual (before language develops) or
Recommended panel testing at Breda Genetics: Alport syndrome, Epstein syndrome and Fechtner syndrome (COL4A3, COL4A4, COL4A5, MYH9) Summary Alport syndrome is a hereditary progressive glomerulopathy characterized by hematuria and proteinuria. The disease is caused by a gene mutation and affects the production of collagen type IV, which is an abundant component of the glomerular basement membrane. Detailed clinical
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