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Metadata
ID DOID:0050762
Name 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.
https://en.wikipedia.org/wiki/Adenylosuccinate_lyase_deficiency
Xrefs

GARD:550

OMIM:103050

Subsets

DO_rare_slim

Parent Relationships

is_a amino acid metabolic disorder

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