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Infantile Bartter syndrome with deafness type 4
Clinical feature:
Definition: Infantile Bartter syndrome is an autosomal recessive disease caused either by mutation of the BSND gene or by simultaneous mutation of CLCNKA and CLCNKB genes.
Epidemiology: Although exact figures still unknown and difficult to obtain, the the incidence is thought between 1 in 50,000 to 1 in 100,000.
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