Definition
A disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.
Definition
A disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.
Disease data
Classification
Disease
Synonyms
ADSL deficiency
Niedobór adenylosukcynazy
Niedobór ADSL
Adenylosuccinase deficiency
ORPHA code
46
OMIM code
103050
ICD10 code
E79.8
ICD11 code
5C55.0Y
No additional description.
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