Adenylosuccinate lyase deficiency

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Name:
Adenylosuccinate lyase deficiency
Description:
A disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.
ORPHAcode:
46
Synonyms:
ADSL deficiency
Adenylosuccinase deficiency
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14