carbonic anhydrase 2 deficiency

Genetics

• autosomal dominant
• defect in carbonic anhydrase 2

Clinical manifestations

• osteopetrosis
• renal tubular acidosis
• cerebral calcification (marble brain disease)
• mental retardation

Laboratory

• carbonic anhydrase 2 Ab in serum

Database

• OMIM: https://mirror.omim.org/entry/259730