Clinical feature: 

Definition: This Renal tubular acidosis due to carboanhydrase 2 deficiency is characterized by impaired acidification in proximal and distal tubules, osteopterosis, and cerebral calcifications.

Literature: 

Lotan D et al. (2006) Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome.
Borthwick KJ et al. (2003) A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis.