Term Name: Guttmacher syndrome
Synonyms: autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias, preaxial deficiency-postaxial polydactyly-hypospadias syndrome
Definition: A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.2.
Ontology: Human Disease [DOID:0111544]   ( DOID:0111544 )

Relationships
is a type of: autosomal dominant disease syndrome