Adenylosuccinate lyase deficiency
Synonyms: ADSL deficiency | Adenylosuccinase deficiency
A disorder of purine metabolism characterized by intellectual disability psychomotor delay and/or regression seizures and autistic features.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
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Adenylosuccinate lyase deficiency?
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