释义 |
marble brain disease An autosomal recessive [MIM259730] condition due to carbonic anhydrase II deficiency Lab Metabolic acidosis, hyperchloremia, alkaline urinemarble 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. |