multiple synostoses syndrome 4

Term ID

DOID:0081320

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. https://pubmed.ncbi.nlm.nih.gov/29130651/

References

• OMIM:617898

Ontology

Human Disease   ( DOID:0081320 )