* 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 |
| FLNA | Xq28 | 300017 | REa, A, REn | Heterotopia, periventricular, 300049 (3) | 300049 | 3 |
| FLNA | Xq28 | 300017 | REa, A, REn | Otopalatodigital syndrome, type I, 311300 (3) | 311300 | 3 |
| FLNA | Xq28 | 300017 | REa, A, REn | Otopalatodigital syndrome, type II, 304120 (3) | 304120 | 3 |
| FLNA | Xq28 | 300017 | REa, A, REn | Intestinal pseudoobstruction, neuronal, 300048 (3) | 300048 | 3 |
| FLNA | Xq28 | 300017 | REa, A, REn | Melnick-Needles syndrome, 309350 (3) | 309350 | 3 |
| FLNA | Xq28 | 300017 | REa, A, REn | Frontometaphyseal dysplasia 1, 305620 (3) | 305620 | 3 |
| FLNA | Xq28 | 300017 | REa, A, REn | ?FG syndrome 2, 300321 (3) | 300321 | 3 |
| FLNA | Xq28 | 300017 | REa, A, REn | Cardiac valvular dysplasia, X-linked, 314400 (3) | 314400 | 3 |
| FLNA | Xq28 | 300017 | REa, A, REn | Terminal osseous dysplasia, 300244 (3) | 300244 | 3 |
| FLNA | Xq28 | 300017 | REa, A, REn | Congenital short bowel syndrome, 300048 (3) | 300048 | 3 |