* Phenotype mapping Key
1 => The disorder is placed on the map based on its association with a gene, but the underlying defect is not known
2 => The disorder has been placed on the map by linkage; no mutation has been found
3 => The molecular basis for the disorder is known; a mutation has been found in the gene
4 => A contiguous gene deletion or duplication syndrome, multiple genes are deleted or duplicated causing the phenotype
Gene Symbol | Chromosomal Location | Gene MIM number | Mapping Method | Phenotype | Phenotype MIM number | Phenotype Mapping Key |
CAD | 1p36.32 | 601883 | A | NA | NA | NA |
CAD | 2p23.3 | 114010 | REa, A, S, D | Epileptic encephalopathy, early infantile, 50, 616457 (3) | 616457 | 3 |