Marble Brain Disease

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An autosomal recessive [MIM259730] condition due to carbonic anhydrase II deficiency
Lab Metabolic acidosis, hyperchloremia, alkaline urine

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.

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