Human genes for frontometaphyseal dysplasia 1
Frontometaphyseal dysplasia 1 [DOID:0111786]
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.
Synonyms: frontometaphyseal dysplasia 1, DOID:0111786, FMD1