Visualize Submit Comment

Metadata
ID	DOID:0081320
Name	multiple synostoses syndrome 4
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/
Xrefs	MIM:617898
Subsets	DO_rare_slim
Parent Relationships	is_a multiple synostoses syndrome