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Up to: ASAH1-related sphingolipidosis

Farber lipogranulomatosis

A rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.

1 trial tagged with this condition →

This condition has no sub-types.