DISEASES

Disease-gene associations mined from literature

Human genes for brachydactyly type E2

Brachydactyly type E2 [DOID:0110976]

A characterized byautosomal dominant inheritance of short stature, tooth abnormaities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p.

Synonyms:  brachydactyly type E2,  DOID:0110976,  BDE2