Question: What is (are) Renal tubular acidosis with deafness ?
Answer: Renal tubular acidosis with deafness is characterized by kidney (renal) problems and sensorineural hearing loss. Infants with this condition may have problems with feeding and gaining weight (failure to thrive). Most children and adults with the condition have short stature, and many develop kidney stones. Other less common features include a softening and weakening of the bones and hypokalemic paralysis (extreme muscle weakness associated with low levels of potassium in the blood). Renal tubular acidosis with deafness is caused by mutations in the ATP6V1B1 or ATP6V0A4 gene. It is inherited in an autosomal recessive pattern. Treatment with sodium bicarbonate or sodium citrate can reduce or prevent many of the symptoms of this condition.
Source: GARD

Question: What are the symptoms of Renal tubular acidosis with deafness ?
Answer: What are the signs and symptoms of Renal tubular acidosis with deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubular acidosis with deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Nephrolithiasis - Renal tubular acidosis - Sensorineural hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD