| Term Name: | frontometaphyseal dysplasia 1 |
|---|---|
| Synonyms: | FMD1 |
| Definition: | A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in FLNA on chromosome Xq28. |
| Ontology: | Human Disease [DOID:0111786] ( DOID:0111786 ) |