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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 |
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DO_rare_slim |
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