marble brain disease

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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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