BSND

barttin CLCNK type accessory beta subunit
OMIM: 606412
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BARTTER SYNDROME TYPE 4A 602522
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BARTTER SYNDROME TYPE 4A
Green
in Hearing loss
R-numbers: R67
Signed-off version 2.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hearing loss, Bartter syndrome, type 4a, 602522, #602522:Sensorineural deafness with mild renal dysfunction, Barttersyndrome,type4a, 602522
R-numbers: R256
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bartter Syndrome, Bartter syndrome, type 4a, 602522, Sensorineural deafness with mild renal dysfunction, 602522
R-numbers: R198
Signed-off version 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypokalaemic alkalosis with hypercalciuria, Bartter syndrome type 4a, Sensorineural deafness with mild renal dysfunction MIM 602522
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bartter syndrome, type 4a, 602522, Sensorineural deafness with mild renal dysfunction, 602522