Central nervous system calcification-deafness-tubular acidosis-anemia syndrome

This syndrome is characterized by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family.

Also known as: Yoshimura-Takeshita syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with Central nervous system calcification-deafness-tubular acidosis-anemia syndrome itself.