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Table 1 Genomic locations and phenotypes of nine families associated with deletion of DYNC1I1 and preserved DLX5/6

From: A novel description of a syndrome consisting of 7q21.3 deletion including DYNC1I1 with preserved DLX5/6 without ectrodactyly: a case report

Family (authors and Reference number) Genomic location (hg19) Size of deletion (kb) Phenotype
This case report chr7: 93,389,222-96,579,845 3191 Craniofacial dysmorphology, personality disorder, hearing loss, musculoskeletal disorder, inguinal herniae, mitral valve prolapse, without ectrodactyly
Tayebi et al. [7] family 1 chr7:95,615,187-95,783,313 167 SHFM
Tayebi et al. [7] family 2 chr7:95,624,825-96,135,521 510 SHFM, hearing loss
Tayebi et al. [7] family 3 chr7: 95,667,046-95,872,044 205 SHFM
Tayebi et al. [7] family 4 chr7:95,693,341-95,862,369 169 SHFM
Delgado and Velinov [3] chr7:94,769,383-95,801,045 1000 Two members Intellectual disability, SHFM
Two members Intellectual disability, without SHFM
Rattanasopha et al. [8] N/A 103 Eight members SHFM
Two members No abnormalities
Lango Allen et al. [9] N/A 106 SHFM, hearing loss
Kouwenhoven et al. [10] N/A 880 Non-syndromic SHFM
  1. N/A not available, SHFM split hand/split foot malformation