* 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 LocationGene MIM number Mapping MethodPhenotype Phenotype MIM number Phenotype Mapping Key
FLNAXq28300017REa, A, REnHeterotopia, periventricular, 300049 (3)3000493
FLNAXq28300017REa, A, REnOtopalatodigital syndrome, type I, 311300 (3)3113003
FLNAXq28300017REa, A, REnOtopalatodigital syndrome, type II, 304120 (3)3041203
FLNAXq28300017REa, A, REnIntestinal pseudoobstruction, neuronal, 300048 (3)3000483
FLNAXq28300017REa, A, REnMelnick-Needles syndrome, 309350 (3)3093503
FLNAXq28300017REa, A, REnFrontometaphyseal dysplasia 1, 305620 (3)3056203
FLNAXq28300017REa, A, REn?FG syndrome 2, 300321 (3)3003213
FLNAXq28300017REa, A, REnCardiac valvular dysplasia, X-linked, 314400 (3)3144003
FLNAXq28300017REa, A, REnTerminal osseous dysplasia, 300244 (3)3002443
FLNAXq28300017REa, A, REnCongenital short bowel syndrome, 300048 (3)3000483