Version: 8.0.0
Date: Tue Jan 28 2025
adenylosuccinase lyase deficiency
DOID:0050762
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

adenylosuccinase lyase deficiency

Definition
An amino acid metabolic disorder that is characterized by microcephaly, aggressive behavior, cerebellar hypoplasia and seizures, has_material_basis_in autosomal recessive inheritance of mutation in the ADSL gene resulting in adenylosuccinate lyase deficiency.
Synonyms
None
Cross References
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Sources of Associations

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