Term Name: | adenylosuccinase lyase deficiency |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0050762] ( DOID:0050762 ) |