marble brain disease

An autosomal recessive [MIM259730] condition due to carbonic anhydrase II deficiency
Lab Metabolic acidosis, hyperchloremia, alkaline urine
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

marble brain disease

An AR condition due to carbonic anhydrase II deficiency Clinical Mental and growth retardation, facial dysmorphia, dysodontogenesis, cerebral calcification with a 'veined' pattern, osteopetrosis, renal tubular acidosis, restrictive lung disease due to rib deformity Lab Metabolic acidosis, hyperchloremia, alkaline urine. Cf État marbre.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.