| Metadata | |
|---|---|
| ID | DOID:0050762 |
| PURL | http://purl.obolibrary.org/obo/DOID_0050762 Copy |
| 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 | |
| Subsets |
DO_rare_slim |
| Parent Relationships |