Human genes for brachydactyly type E1
Brachydactyly type E1 [DOID:0110972]
A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.
Synonyms: brachydactyly type E1, DOID:0110972, BDE1