An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21.
synonyms:
carbonic anhydrase II deficiency,
OMIM:259730,
osteopetrosis with renal tubular acidosis,
OPTB3,
marble brain disease,
259730,
autosomal recessive osteopetrosis 3 with renal tubular acidosis,
