Osteopetrosis with renal tubular acidosis

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Osteopetrosis with renal tubular acidosis

Synonyms: Carbonic anhydrase 2 deficiency | Guibaud-Vainsel syndrome | Marble brain disease | Mixed RTA | Mixed renal tubular acidosis | Renal tubular acidosis type 3

Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term) renal tubular acidosis (RTA) and neurological disorders related to cerebral calcifications.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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