Disease-gene associations mined from literature

Human genes for split hand-foot malformation 1

Split hand-foot malformation 1 [DOID:0090021]

A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region.

Synonyms:  split hand-foot malformation 1,  DOID:0090021,  split handfoot malformation 1,  SHFD1