Autosomal recessive hypophosphatemic rickets

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Synonyms: ARHR

A rare autosomal recessive renal phosphate-wasting disorder characterized by childhood-onset hypophosphatemia that clinically manifests with rickets and/or osteomalacia slow growth/short stature bone pain and skeletal deformities. Additional findings may include fatigue muscle weakness and repeated bone fractures.

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 July 2024

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Autosomal recessive hypophosphatemic rickets?

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