ATP6V0A4

ATPase H+ transporting V0 subunit a4
OMIM: 605239
PanelMode of inheritanceDetails
2 panels
R-numbers: R256
Signed-off version 3.1
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722
R-numbers: R198
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722