This syndrome is characterized by severe hypotonia, lactic academia and congenital hyperammonaemia.
Comprehensive, easy-to-understand information about this condition
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Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 1 company has orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.