Term Name: | multiple synostoses syndrome 4 |
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Synonyms: | |
Definition: | A multiple synostoses syndrome that is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22. |
Ontology: | Human Disease [DOID:0081320] ( DOID:0081320 ) |