adenylosuccinase lyase deficiency

Term ID

DOID:0050762

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. https://en.wikipedia.org/wiki/Adenylosuccinate_lyase_deficiency

References

• GARD:550
• MIM:103050

Ontology

Human Disease   ( DOID:0050762 )