Term Name: multiple synostoses syndrome 4
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 )

Relationships
is a type of: multiple synostoses syndrome