Term Name: hand-foot-genital syndrome
Synonyms: hand-foot-uterus syndrome, HFGS
Definition: A syndrome characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.
Ontology: Human Disease [DOID:0060739]   ( DOID:0060739 )

Relationships
is a type of: autosomal dominant disease syndrome