| Dataset | DisGeNET Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| Description | Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment. (Orphanet Rare Disease Ontology, Orphanet_24) |
| External Link | https://www.disgenet.org/browser/0/1/0/C2936826 |
| Similar Terms | |
| Downloads & Tools |
2 genes associated with the disease Fumaric Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
