Term Name: split hand-foot malformation 1
Synonyms: SHFD1, SHFM1
Definition: 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.
Ontology: Human Disease [DOID:0090021]   ( DOID:0090021 )

Relationships
is a type of: autosomal dominant disease split hand-foot malformation