|Signs and Symptoms||Approximate number of patients (when available)|
|Edema of the lower limbs||90%|
|Autosomal dominant inheritance||-|
|Generalized distal tubular acidosis||-|
|Renal cell carcinoma||-|
|Stage 5 chronic kidney disease||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.