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Up to: Hereditary peripheral neuropathy · Multiple carboxylase deficiency

Biotinidase deficiency

A late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.

3 trials tagged with this condition →

This condition has no sub-types.