Term Name: | Guttmacher syndrome |
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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 ) |