Disease ID | Source | Name | Description |
602522 | OMIM | Bartter syndrome 4A, neonatal, with sensorineural deafness (BARTS4A) | A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS4A is associated with sensorineural deafness. The disease is caused by variants affecting the gene represented in this entry. |