| Dataset | DisGeNET Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| Description | Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy. (Orphanet Rare Disease Ontology, Orphanet_46) |
| External Link | https://www.disgenet.org/browser/0/1/0/C4721811 |
| Similar Terms | |
| Downloads & Tools |
2 genes associated with the disease Adenylosuccinate Lyase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
