Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families

Table 1 Microdeletions of various sizes encompassing the exonic enhancers of DLX5/6 located in exon 15 and 17 of DYNC1I1 are associated with SHFM1

Family	Genomic Location (hg19)	Size of Deletion [kb]	Phenotype
1	chr7:95,615,187-95,783,313	167	SHFM
2	chr7:95,624,825-96,135,521	510	SHFM, Hearing loss
3	chr7: 95,667,046-95,872,044	205	SHFM
4	chr7:95,693,341-95,862,369	169	SHFM